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Familial hypoparathyroidism v2.5 SOX3 Arina Puzriakova Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
Familial hypoparathyroidism v2.4 Ivone Leong Panel version has been signed off
Familial hypoparathyroidism v2.3 Ivone Leong Panel version has been signed off
Familial hypoparathyroidism v2.0 Ivone Leong promoted panel to version 2.0
Familial hypoparathyroidism v1.14 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Familial hypoparathyroidism v1.13 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease
Familial hypoparathyroidism v1.12 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial hypoparathyroidism v1.11 Ivone Leong List of related panels changed from Familial or syndromic hypoparathyroidism to Familial or syndromic hypoparathyroidism; R153
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Familial hypoparathyroidism v1.10 TBCE Ivone Leong commented on gene: TBCE
Familial hypoparathyroidism v1.10 PTH Ivone Leong commented on gene: PTH
Familial hypoparathyroidism v1.10 GNA11 Ivone Leong commented on gene: GNA11
Familial hypoparathyroidism v1.10 GCM2 Ivone Leong commented on gene: GCM2
Familial hypoparathyroidism v1.10 GATA3 Ivone Leong commented on gene: GATA3
Familial hypoparathyroidism v1.10 CASR Ivone Leong commented on gene: CASR
Familial hypoparathyroidism v1.10 AIRE Ivone Leong commented on gene: AIRE
Familial hypoparathyroidism v1.10 TBX1 Ivone Leong Classified gene: TBX1 as Red List (low evidence)
Familial hypoparathyroidism v1.10 TBX1 Ivone Leong Added comment: Comment on list classification: PMID: 30137364 reports on 2 unrelated families who have hypoparathyroidism and have splice variants in the TBX1 gene that leads to exon skipping.
Familial hypoparathyroidism v1.10 TBX1 Ivone Leong Gene: tbx1 has been classified as Red List (Low Evidence).
Familial hypoparathyroidism v1.9 TBX1 Ivone Leong Publications for gene: TBX1 were set to PMID: 30137364
Familial hypoparathyroidism v1.8 TBCE Treena Cranston reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hypoparathyroidism v1.8 TBX1 Treena Cranston gene: TBX1 was added
gene: TBX1 was added to Familial hypoparathyroidism. Sources: Other
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX1 were set to PMID: 30137364
Penetrance for gene: TBX1 were set to unknown
Review for gene: TBX1 was set to RED
Added comment: Red evidence to date but recent publication of this gene (PMID: 30137364) showing association with isolated hypoparathyroidism. Too early for diagnostic panels but of interest for research, so flagging for future consideration
Sources: Other
Familial hypoparathyroidism v1.7 Ellen McDonagh Panel name changed from Familial or syndromic hypoparathyroidism to Familial hypoparathyroidism
List of related panels changed from to Familial or syndromic hypoparathyroidism
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial hypoparathyroidism TBCE Helen Brittain classified TBCE as green
Familial hypoparathyroidism TBCE Helen Brittain reviewed TBCE