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Mendeliome v1.3155 BRSK2 Zornitza Stark Phenotypes for gene: BRSK2 were changed from Intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092, BRSK2-related
Mendeliome v1.3154 BRSK2 Zornitza Stark edited their review of gene: BRSK2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, BRSK2-related
Mendeliome v0.234 BRSK2 Zornitza Stark Marked gene: BRSK2 as ready
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.234 BRSK2 Zornitza Stark Classified gene: BRSK2 as Green List (high evidence)
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.233 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature