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| Mendeliome v1.4051 | SCYL2 | Zornitza Stark Classified gene: SCYL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4051 | SCYL2 | Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4050 | SCYL2 | Zornitza Stark edited their review of gene: SCYL2: Added comment: PMID 31960134, 39169672, 40243816, and 36344539 collectively report seven unrelated families with biallelic SCYL2 variants. Five families present a severe syndromic arthrogryposis multiplex congenita (Zain syndrome/AMC4) featuring arthrogryposis, microcephaly, corpus callosum agenesis, optic atrophy, epilepsy and early lethality. Two families display a milder neurodevelopmental disorder with speech delay, autism spectrum disorder, intellectual disability and dysmorphic features but no arthrogryposis. Mouse knockout models and patient‑cell Western blot demonstrate loss‑of‑function, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40243816, 39169672, 31960134; Changed phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2960 | SCYL2 | Zornitza Stark Marked gene: SCYL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2960 | SCYL2 | Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2960 | SCYL2 | Zornitza Stark Classified gene: SCYL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2960 | SCYL2 | Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2959 | SCYL2 |
Zornitza Stark gene: SCYL2 was added gene: SCYL2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL2 were set to 31960134; 26203146 Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome Review for gene: SCYL2 was set to AMBER Added comment: Two unrelated families reported with AMC, variable other features including microcephaly. Sources: Literature |
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