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Intellectual disability syndromic and non-syndromic v0.5718 SLC12A9 Zornitza Stark Marked gene: SLC12A9 as ready
Intellectual disability syndromic and non-syndromic v0.5718 SLC12A9 Zornitza Stark Gene: slc12a9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5718 SLC12A9 Zornitza Stark Classified gene: SLC12A9 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5718 SLC12A9 Zornitza Stark Gene: slc12a9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5717 SLC12A9 Zornitza Stark Classified gene: SLC12A9 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5717 SLC12A9 Zornitza Stark Gene: slc12a9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5716 SLC12A9 Zornitza Stark Classified gene: SLC12A9 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5716 SLC12A9 Zornitza Stark Gene: slc12a9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5716 SLC12A9 Zornitza Stark Classified gene: SLC12A9 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5716 SLC12A9 Zornitza Stark Gene: slc12a9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5714 SLC12A9 Zornitza Stark gene: SLC12A9 was added
gene: SLC12A9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLC12A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A9 were set to 38334070
Phenotypes for gene: SLC12A9 were set to Neurodevelopmental disorder, MONDO:0700092, SLC12A9-related
Review for gene: SLC12A9 was set to GREEN
Added comment: Three individuals from unrelated families with bi-allelic LoF variants and a neurodevelopmental phenotype, skeletal abnormalities, brain abnormalities, hypopigmentation, dysmorphic features.
Sources: Literature