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| Vascular skin disorders v1.63 | STAMBP | Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: STAMBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.63 | STAMBP | Arina Puzriakova Publications for gene: STAMBP were set to 23542699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.62 | STAMBP | Arina Puzriakova Classified gene: STAMBP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.62 | STAMBP |
Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GMS panel update. Multiple unrelated cases reported in the literature of biallelic variants in the STAMBP gene as the cause of microcephaly-capillary malformation syndrome (PMID: 21271646; 21548128; 21815250; 23542699; 25692795; 27531570; 29907875). Generalised capillary malformations on the skin are a cardinal feature of this condition and therefore inclusion of STAMBP on the panel is warranted. |
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| Vascular skin disorders v1.62 | STAMBP | Arina Puzriakova Gene: stambp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.61 | STAMBP | Arina Puzriakova Phenotypes for gene: STAMBP were changed from Microcephaly-capillary malformation syndrome, MIM# 614261 to Microcephaly-capillary malformation syndrome, OMIM:614261 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular skin disorders v1.3 | STAMBP |
Zornitza Stark gene: STAMBP was added gene: STAMBP was added to Vascular skin disorders. Sources: Expert list Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAMBP were set to 23542699 Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, MIM# 614261 Review for gene: STAMBP was set to GREEN Added comment: Nine families reported in the original publication. Sources: Expert list |
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