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Intellectual disability syndromic and non-syndromic v0.6468 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Intellectual disability syndromic and non-syndromic v0.6468 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6468 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523
Intellectual disability syndromic and non-syndromic v0.6467 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Intellectual disability syndromic and non-syndromic v0.6466 RARS2 Zornitza Stark Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6465 RARS2 Zornitza Stark reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17847012, 20635367, 25809939; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Marked gene: RARS as ready
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Classified gene: RARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2460 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2459 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 31814314
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 MIM# 616140
Review for gene: RARS was set to GREEN
gene: RARS was marked as current diagnostic
Added comment: 15 families reported, DD/ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RARS2 was set to Unknown