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Intellectual disability syndromic and non-syndromic v1.154 SLK Zornitza Stark Marked gene: SLK as ready
Intellectual disability syndromic and non-syndromic v1.154 SLK Zornitza Stark Gene: slk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.154 SLK Zornitza Stark Classified gene: SLK as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.154 SLK Zornitza Stark Gene: slk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.153 SLK Zornitza Stark gene: SLK was added
gene: SLK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLK were set to 40347834
Phenotypes for gene: SLK were set to Neurodevelopmental disorder, MONDO:0700092, SLK-related
Review for gene: SLK was set to GREEN
Added comment: Three affected individuals from three unrelated families reported. Two of the families were consanguineous and homozygous LoF variants were present in the probands. Third individual had compound het missense variants. Functional data from a Drosophila model and transdifferentiated neurons.
Sources: Literature