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Intellectual disability syndromic and non-syndromic v0.3227 PIGK Zornitza Stark Marked gene: PIGK as ready
Intellectual disability syndromic and non-syndromic v0.3227 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3227 PIGK Zornitza Stark Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Intellectual disability syndromic and non-syndromic v0.3226 PIGK Zornitza Stark edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Intellectual disability syndromic and non-syndromic v0.2503 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2503 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2502 PIGK Zornitza Stark gene: PIGK was added
gene: PIGK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: PIGK was set to GREEN
Added comment: 12 individuals from 9 unrelated families reported.
Sources: Literature