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| Ataxia and cerebellar anomalies - narrow panel v4.64 | ACBD6 | Arina Puzriakova Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.64 | ACBD6 | Arina Puzriakova Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.50 | ACBD6 | Arina Puzriakova Entity copied from Intellectual disability - microarray and sequencing v5.405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.50 | ACBD6 |
Arina Puzriakova gene: ACBD6 was added gene: ACBD6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Q1_24_promote_green tags were added to gene: ACBD6. Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 21937992; 32108178; 36457943; 37951597 Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder, MONDO:0700092 Penetrance for gene: ACBD6 were set to Complete |
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