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| Mosaic skin disorders - deep sequencing v2.14 | GJA4 | Arina Puzriakova Publications for gene: GJA4 were set to 33912852 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.13 | GJA4 | Arina Puzriakova Classified gene: GJA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.13 | GJA4 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. A recurrent GJA4 c.121G>T (p.Gly41Cys) somatic variant has been found in >50 individuals with cavernous venous malformation. The same somatic variant has been found in at least three unrelated cases with cutaneous lesions which plausibly could be referred via this panel. Functional studies have shown this is a GoF variant that leads to formation of a hyperactive hemichannel. |
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| Mosaic skin disorders - deep sequencing v2.13 | GJA4 | Arina Puzriakova Gene: gja4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.12 | GJA4 |
Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: GJA4. Tag Q3_23_NHS_review tag was added to gene: GJA4. Tag recurrent-variant tag was added to gene: GJA4. |
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| Mosaic skin disorders - deep sequencing v2.1 | GJA4 |
Tom Cullup gene: GJA4 was added gene: GJA4 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: GJA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA4 were set to 33912852 Phenotypes for gene: GJA4 were set to Cutaneous and hepatic vascular lesions (no OMIM phenotype) Penetrance for gene: GJA4 were set to unknown Mode of pathogenicity for gene: GJA4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: GJA4 was set to GREEN Added comment: Multiple patients with shared phenotype and hot-spot Gly41Cys somatic gain of function mutation in 33912852. Sources: Expert list |
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