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| Arthrogryposis v0.252 | HS2ST1 | Zornitza Stark Marked gene: HS2ST1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.252 | HS2ST1 | Zornitza Stark Gene: hs2st1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.252 | HS2ST1 | Zornitza Stark Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.251 | HS2ST1 | Zornitza Stark edited their review of gene: HS2ST1: Changed phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194, Intellectual disability, dysmorphic features, congenital anomalies, arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.246 | HS2ST1 | Zornitza Stark Classified gene: HS2ST1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.246 | HS2ST1 | Zornitza Stark Gene: hs2st1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.245 | HS2ST1 |
Zornitza Stark gene: HS2ST1 was added gene: HS2ST1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis Review for gene: HS2ST1 was set to AMBER Added comment: 4 affected individuals from three unrelated families. Three of the individuals (two families) had arthrogryposis. Sources: Literature |
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