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Non-syndromic hypotrichosis v1.7 LSS Eleanor Williams Publications for gene: LSS were set to 32101538; 30401459
Non-syndromic hypotrichosis v1.6 LSS Eleanor Williams edited their review of gene: LSS: Changed publications: 32101538, 30401459, 30723320, 29016354
Non-syndromic hypotrichosis v1.6 LSS Eleanor Williams Classified gene: LSS as Green List (high evidence)
Non-syndromic hypotrichosis v1.6 LSS Eleanor Williams Added comment: Comment on list classification: After consultation with Genomics England clinicians, promoting this gene from red to green as there are > 3 cases (some syndromic, some non-syndromic).
Non-syndromic hypotrichosis v1.6 LSS Eleanor Williams Gene: lss has been classified as Green List (High Evidence).
Non-syndromic hypotrichosis v1.5 LSS Eleanor Williams changed review comment from: Associated with Hypotrichosis 14 618275 (AR) in OMIM.

PMID: 32101538 - Wada et al 2020 - report two siblings from a nonconsanguineous Japanese family with novel biallelic LSS mutations (compound het) who presented congenital hypotrichosis, midline anomalies, such as cleft palate and agenesis of the corpus callosum, and no cataracts. The motor and mental development of the patients were normal. They also created tissue specific knock-out mice as Lss constitutive knockout mice are embryonically lethal, and found epidermis-specific knockout of Lss caused hypotrichosis, lens-specific Lss knockout mice had cataracts.

PMID: 30723320 - Besnard et al 2019 - report 7 unrelated families (11 individuals) with variants in LSS who present with alopecia (11/11), intellectual disability (10 mod/severe, 1 mild) and epilepsy (7/11). Segregation data shown for 6 families.

PMID: 30401459 - Romano et al 2018 - report 3 unrelated (Arabic, Swiss, Afgan origin) families with potentially autosomal-recessive Hypotrichosis simplex in which they identify by WES 5 five different missense and nonsense mutations in LSS. Variants were shown to segregate with the disorder in 2 families (DNA not available for the third). In one family the siblings also presented with intellectual disability but the authors consider this coincidental. No other phenotypes such as cataracts were reported.
Sources: Literature; to: Associated with Hypotrichosis 14 618275 (AR) in OMIM.

PMID: 32101538 - Wada et al 2020 - report two siblings from a nonconsanguineous Japanese family with novel biallelic LSS mutations (compound het) who presented congenital hypotrichosis, midline anomalies, such as cleft palate and agenesis of the corpus callosum, and no cataracts. The motor and mental development of the patients were normal. They also created tissue specific knock-out mice as Lss constitutive knockout mice are embryonically lethal, and found epidermis-specific knockout of Lss caused hypotrichosis, lens-specific Lss knockout mice had cataracts.

PMID: 30723320 - Besnard et al 2019 - report 7 unrelated families (11 individuals) with variants in LSS who present with alopecia (11/11), intellectual disability (10 mod/severe, 1 mild) and epilepsy (7/11). Segregation data shown for 6 families.

PMID: 30401459 - Romano et al 2018 - report 3 unrelated (Arabic, Swiss, Afgan origin) families with potentially autosomal-recessive Hypotrichosis simplex in which they identify by WES 5 five different missense and nonsense mutations in LSS. Variants were shown to segregate with the disorder in 2 families (DNA not available for the third). In one family the siblings also presented with intellectual disability but the authors consider this coincidental. No other phenotypes such as cataracts were reported.

PMID: 29016354 - Chen and Lui 2017 - report a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and compound heterozygous variants in LSS.

Sources: Literature
Non-syndromic hypotrichosis v1.5 LSS Eleanor Williams changed review comment from: Associated with Hypotrichosis 14 618275 (AR) in OMIM.

PMID: 32101538 - Wada et al 2020 - report two siblings from a nonconsanguineous Japanese family with novel biallelic LSS mutations (compound het) who presented congenital hypotrichosis, midline anomalies, such as cleft palate and agenesis of the corpus callosum, and no cataracts. The motor and mental development of the patients were normal. They also created tissue specific knock-out mice as Lss constitutive knockout mice are embryonically lethal, and found epidermis-specific knockout of Lss caused hypotrichosis, lens-specific Lss knockout mice had cataracts.

PMID: 30401459 - Romano et al 2018 - report 3 unrelated (Arabic, Swiss, Afgan origin) families with potentially autosomal-recessive Hypotrichosis simplex in which they identify by WES 5 five different missense and nonsense mutations in LSS. Variants were shown to segregate with the disorder in 2 families (DNA not available for the third). In one family the siblings also presented with intellectual disability but the authors consider this coincidental. No other phenotypes such as cataracts were reported.
Sources: Literature; to: Associated with Hypotrichosis 14 618275 (AR) in OMIM.

PMID: 32101538 - Wada et al 2020 - report two siblings from a nonconsanguineous Japanese family with novel biallelic LSS mutations (compound het) who presented congenital hypotrichosis, midline anomalies, such as cleft palate and agenesis of the corpus callosum, and no cataracts. The motor and mental development of the patients were normal. They also created tissue specific knock-out mice as Lss constitutive knockout mice are embryonically lethal, and found epidermis-specific knockout of Lss caused hypotrichosis, lens-specific Lss knockout mice had cataracts.

PMID: 30723320 - Besnard et al 2019 - report 7 unrelated families (11 individuals) with variants in LSS who present with alopecia (11/11), intellectual disability (10 mod/severe, 1 mild) and epilepsy (7/11). Segregation data shown for 6 families.

PMID: 30401459 - Romano et al 2018 - report 3 unrelated (Arabic, Swiss, Afgan origin) families with potentially autosomal-recessive Hypotrichosis simplex in which they identify by WES 5 five different missense and nonsense mutations in LSS. Variants were shown to segregate with the disorder in 2 families (DNA not available for the third). In one family the siblings also presented with intellectual disability but the authors consider this coincidental. No other phenotypes such as cataracts were reported.
Sources: Literature
Non-syndromic hypotrichosis v1.5 LSS Eleanor Williams changed review comment from: Associated with Hypotrichosis 14 618275 (AR) in OMIM.

PMID: 32101538 - Wada et al 2020 - report two siblings from a nonconsanguineous Japanese family with novel biallelic LSS mutations (compound het) who presented congenital hypotrichosis, midline anomalies, such as cleft palate and agenesis of the corpus callosum, and no cataracts. The motor and mental development of the patients were normal. They also created tissue specific knock-out mice as Lss constitutive knockout mice are embryonically lethal, and found epidermis-specific knockout of Lss caused hypotrichosis, lens-specific Lss knockout mice had cataracts.

PMID: 30401459 - Romano et al 2018 - report 3 unrelated (Arabic, Swiss, Afgan origin) families with potentially autosomal-recessive Hypotrichosis simplex in which they identify by WES 5 five different missense and nonsense mutations in LSS. Variants were shown to segregate with the disorder in 2 families (DNA not available for the third). In one family the siblings also presented with intellectual disability but the authors consider this coincidental.
Sources: Literature; to: Associated with Hypotrichosis 14 618275 (AR) in OMIM.

PMID: 32101538 - Wada et al 2020 - report two siblings from a nonconsanguineous Japanese family with novel biallelic LSS mutations (compound het) who presented congenital hypotrichosis, midline anomalies, such as cleft palate and agenesis of the corpus callosum, and no cataracts. The motor and mental development of the patients were normal. They also created tissue specific knock-out mice as Lss constitutive knockout mice are embryonically lethal, and found epidermis-specific knockout of Lss caused hypotrichosis, lens-specific Lss knockout mice had cataracts.

PMID: 30401459 - Romano et al 2018 - report 3 unrelated (Arabic, Swiss, Afgan origin) families with potentially autosomal-recessive Hypotrichosis simplex in which they identify by WES 5 five different missense and nonsense mutations in LSS. Variants were shown to segregate with the disorder in 2 families (DNA not available for the third). In one family the siblings also presented with intellectual disability but the authors consider this coincidental. No other phenotypes such as cataracts were reported.
Sources: Literature
Non-syndromic hypotrichosis v1.5 LSS Eleanor Williams gene: LSS was added
gene: LSS was added to Non-syndromic hypotrichosis. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 32101538; 30401459
Phenotypes for gene: LSS were set to Hypotrichosis 14 OMIM:618275; hypotrichosis 14 MONDO:0032649
Review for gene: LSS was set to GREEN
Added comment: Associated with Hypotrichosis 14 618275 (AR) in OMIM.

PMID: 32101538 - Wada et al 2020 - report two siblings from a nonconsanguineous Japanese family with novel biallelic LSS mutations (compound het) who presented congenital hypotrichosis, midline anomalies, such as cleft palate and agenesis of the corpus callosum, and no cataracts. The motor and mental development of the patients were normal. They also created tissue specific knock-out mice as Lss constitutive knockout mice are embryonically lethal, and found epidermis-specific knockout of Lss caused hypotrichosis, lens-specific Lss knockout mice had cataracts.

PMID: 30401459 - Romano et al 2018 - report 3 unrelated (Arabic, Swiss, Afgan origin) families with potentially autosomal-recessive Hypotrichosis simplex in which they identify by WES 5 five different missense and nonsense mutations in LSS. Variants were shown to segregate with the disorder in 2 families (DNA not available for the third). In one family the siblings also presented with intellectual disability but the authors consider this coincidental.
Sources: Literature
Non-syndromic hypotrichosis v1.4 C3orf52 Eleanor Williams Classified gene: C3orf52 as Amber List (moderate evidence)
Non-syndromic hypotrichosis v1.4 C3orf52 Eleanor Williams Added comment: Comment on list classification: 2 cases, but may not be relevant to the panel (localized hypotrichosis)
Non-syndromic hypotrichosis v1.4 C3orf52 Eleanor Williams Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Non-syndromic hypotrichosis v1.3 C3orf52 Eleanor Williams gene: C3orf52 was added
gene: C3orf52 was added to Non-syndromic hypotrichosis. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
Added comment: PMID: 32336749 - Malki et al 2020 - identified homozygous variants in C3ORF52 in four individuals with Localized autosomal recessive hypotrichosis (LAH) (2 families). C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H-mediated LPA biosynthesis. Abstract only accessed.

Although localized hypotrichosis is an exclusion criteria for this gene, it has been added to this panel as Amber as maybe useful information in the future.
Sources: Literature
Non-syndromic hypotrichosis Rebecca Foulger promoted panel to version 1
Non-syndromic hypotrichosis SNRPE Rebecca Foulger classified SNRPE as amber
Non-syndromic hypotrichosis KRT74 Rebecca Foulger classified KRT74 as green
Non-syndromic hypotrichosis KRT74 Rebecca Foulger classified KRT74 as amber
Non-syndromic hypotrichosis KRT74 Rebecca Foulger commented on KRT74
Non-syndromic hypotrichosis SNRPE Rebecca Foulger classified SNRPE as amber
Non-syndromic hypotrichosis SNRPE Rebecca Foulger commented on SNRPE
Non-syndromic hypotrichosis SNRPE Rebecca Foulger commented on SNRPE
Non-syndromic hypotrichosis SNRPE Celia Moss reviewed SNRPE
Non-syndromic hypotrichosis SNRPE Celia Moss commented on SNRPE
Non-syndromic hypotrichosis HR Rebecca Foulger classified HR as green
Non-syndromic hypotrichosis DSC3 Rebecca Foulger marked DSC3 as ready
Non-syndromic hypotrichosis RPL21 Rebecca Foulger marked RPL21 as ready
Non-syndromic hypotrichosis RPL21 Rebecca Foulger classified RPL21 as red
Non-syndromic hypotrichosis RPL21 Rebecca Foulger commented on RPL21
Non-syndromic hypotrichosis DSG4 Rebecca Foulger edited their review of DSG4
Non-syndromic hypotrichosis LIPH Rebecca Foulger edited their review of LIPH
Non-syndromic hypotrichosis LIPH Rebecca Foulger classified LIPH as green
Non-syndromic hypotrichosis LIPH Rebecca Foulger commented on LIPH
Non-syndromic hypotrichosis KRT74 Rebecca Foulger commented on KRT74
Non-syndromic hypotrichosis DSC3 Rebecca Foulger classified DSC3 as red
Non-syndromic hypotrichosis DSC3 Rebecca Foulger commented on DSC3
Non-syndromic hypotrichosis APCDD1 Rebecca Foulger classified APCDD1 as green
Non-syndromic hypotrichosis HR Rebecca Foulger edited their review of HR
Non-syndromic hypotrichosis HR Rebecca Foulger commented on HR
Non-syndromic hypotrichosis CDSN Rebecca Foulger classified CDSN as green
Non-syndromic hypotrichosis CDSN Rebecca Foulger commented on CDSN
Non-syndromic hypotrichosis CDSN Rebecca Foulger commented on CDSN
Non-syndromic hypotrichosis CDSN Rebecca Foulger commented on CDSN
Non-syndromic hypotrichosis CDSN Rebecca Foulger edited their review of CDSN
Non-syndromic hypotrichosis CDSN Rebecca Foulger commented on CDSN
Non-syndromic hypotrichosis APCDD1 Rebecca Foulger commented on APCDD1
Non-syndromic hypotrichosis APCDD1 Rebecca Foulger commented on APCDD1
Non-syndromic hypotrichosis LPAR6 Rebecca Foulger commented on LPAR6
Non-syndromic hypotrichosis LPAR6 Rebecca Foulger classified LPAR6 as green
Non-syndromic hypotrichosis KRT71 Rebecca Foulger marked KRT71 as ready
Non-syndromic hypotrichosis KRT71 Rebecca Foulger commented on KRT71
Non-syndromic hypotrichosis DSG4 Rebecca Foulger classified DSG4 as green
Non-syndromic hypotrichosis DSG4 Rebecca Foulger classified DSG4 as amber
Non-syndromic hypotrichosis DSG4 Rebecca Foulger commented on DSG4
Non-syndromic hypotrichosis RPL21 Celia Moss reviewed RPL21
Non-syndromic hypotrichosis KRT71 Celia Moss edited their review of KRT71
Non-syndromic hypotrichosis DSG4 Celia Moss reviewed DSG4
Non-syndromic hypotrichosis KRT71 Celia Moss edited their review of KRT71
Non-syndromic hypotrichosis KRT71 Celia Moss edited their review of KRT71
Non-syndromic hypotrichosis DSC3 Celia Moss edited their review of DSC3
Non-syndromic hypotrichosis SNRPE Celia Moss reviewed SNRPE
Non-syndromic hypotrichosis RPL21 Celia Moss reviewed RPL21
Non-syndromic hypotrichosis LPAR6 Celia Moss reviewed LPAR6
Non-syndromic hypotrichosis LIPH Celia Moss commented on LIPH
Non-syndromic hypotrichosis LIPH Celia Moss commented on LIPH
Non-syndromic hypotrichosis LIPH Celia Moss reviewed LIPH
Non-syndromic hypotrichosis KRT74 Celia Moss reviewed KRT74
Non-syndromic hypotrichosis KRT71 Celia Moss reviewed KRT71
Non-syndromic hypotrichosis HR Celia Moss reviewed HR
Non-syndromic hypotrichosis DSC3 Celia Moss reviewed DSC3
Non-syndromic hypotrichosis CDSN Celia Moss reviewed CDSN
Non-syndromic hypotrichosis APCDD1 Celia Moss edited their review of APCDD1
Non-syndromic hypotrichosis APCDD1 Celia Moss reviewed APCDD1
Non-syndromic hypotrichosis DSG4 Celia Moss reviewed DSG4