Cutaneous photosensitivity with a likely genetic cause

Gene: GATA1

Green List (high evidence)

GATA1 (GATA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102145
EnsemblGeneIds (GRCh37): ENSG00000102145
OMIM: 305371, Gene2Phenotype
GATA1 is in 14 panels

3 reviews

Ivone Leong (Genomics England Curator)

I don't know

PMID:25251786. The Turkish patient also has a heterozygous variant in UROS. There is a second family described in the paper (patient from New Mexico), who also has the same variant in GATA1 and a heterozgyous variant in SEC23B. However, the patient does not photosensitive bullous dermatosis.

As there are only 2 cases there is not enough evidence to support a gene-disease association. This gene is recommended to be downgraded to Amber status.
Created: 12 Jul 2021, 2:03 p.m. | Last Modified: 12 Jul 2021, 2:03 p.m.
Panel Version: 1.8

Zornitza Stark (Australian Genomics)

I don't know

Can only find two reports in the literature for this phenotype, same missense variant: PMID: 17148589 - 1 hemizygous English/French patient with p.R216W and photosensitive bullous dermatosis. PMID: 25251786 - 1 hemizygous Turkish patient with p.R216W and photosensitive bullous dermatosis.
Created: 22 Jul 2020, 4:27 a.m. | Last Modified: 22 Jul 2020, 4:28 a.m.
Panel Version: 1.3

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Erythropoietic porphyria

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.10

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital erythropoietic porphyria
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
Tags
Q3_21_rating Q3_21_expert_review
OMIM
305371
Clinvar variants
Variants in GATA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jul 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: GATA1.

12 Jul 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_expert_review tag was added to gene: GATA1.

12 Jul 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GATA1 were set to

2 Dec 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to GATA1. Added phenotypes Congenital erythropoietic porphyria; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1 Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Catherine Snow (Genomics England)

gene: GATA1 was added gene: GATA1 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria