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Intellectual disability syndromic and non-syndromic v0.5651 RAP1GDS1 Zornitza Stark Phenotypes for gene: RAP1GDS1 were changed from Intellectual disability; dysmorphic features to Alfadhel syndrome, MIM# 620655
Intellectual disability syndromic and non-syndromic v0.5650 RAP1GDS1 Zornitza Stark edited their review of gene: RAP1GDS1: Changed phenotypes: Alfadhel syndrome, MIM# 620655
Intellectual disability syndromic and non-syndromic v0.4337 RAP1GDS1 Zornitza Stark Publications for gene: RAP1GDS1 were set to 32431071
Intellectual disability syndromic and non-syndromic v0.4336 RAP1GDS1 Zornitza Stark Classified gene: RAP1GDS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4336 RAP1GDS1 Zornitza Stark Gene: rap1gds1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4335 RAP1GDS1 Zornitza Stark edited their review of gene: RAP1GDS1: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 32431071, 33875846
Intellectual disability syndromic and non-syndromic v0.2734 RAP1GDS1 Zornitza Stark Marked gene: RAP1GDS1 as ready
Intellectual disability syndromic and non-syndromic v0.2734 RAP1GDS1 Zornitza Stark Gene: rap1gds1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2734 RAP1GDS1 Zornitza Stark Classified gene: RAP1GDS1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2734 RAP1GDS1 Zornitza Stark Gene: rap1gds1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2733 RAP1GDS1 Zornitza Stark gene: RAP1GDS1 was added
gene: RAP1GDS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAP1GDS1 were set to 32431071
Phenotypes for gene: RAP1GDS1 were set to Intellectual disability; dysmorphic features
Review for gene: RAP1GDS1 was set to AMBER
Added comment: Four individuals from two consanguineous families, same homozygous splice site variant detected.
Sources: Literature