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Intellectual disability v3.1514 ALG14 Arina Puzriakova Tag for-review was removed from gene: ALG14.
Intellectual disability v3.1510 ALG14 Sarah Leigh commented on gene: ALG14: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Intellectual disability v3.459 ALG14 Arina Puzriakova Classified gene: ALG14 as Amber List (moderate evidence)
Intellectual disability v3.459 ALG14 Arina Puzriakova Gene: alg14 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.157 ALG14 Sarah Leigh changed review comment from: Have added the "for review" tag, to address the phenotypic variability of published carriers of ALG14 variants.; to: Have added the "for review" tag, to address the phenotypic variability of published carriers of ALG14 variants. This will be reviewed as more cases are reported.
Intellectual disability v3.101 ALG14 Sarah Leigh commented on gene: ALG14: Have added the "for review" tag, to address the phenotypic variability of published carriers of ALG14 variants.
Intellectual disability v3.101 ALG14 Sarah Leigh Classified gene: ALG14 as Green List (high evidence)
Intellectual disability v3.101 ALG14 Sarah Leigh Gene: alg14 has been classified as Green List (High Evidence).
Intellectual disability v3.100 ALG14 Sarah Leigh Tag for-review tag was added to gene: ALG14.
Intellectual disability v3.100 ALG14 Sarah Leigh Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability
Intellectual disability v3.0 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to Intellectual disability. Sources: Expert list
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 30221345; 23404334; 28733338
Phenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability
Review for gene: ALG14 was set to GREEN
gene: ALG14 was marked as current diagnostic
Added comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.
Sources: Expert list
Intellectual disability v3.0 ALG11 Louise Daugherty Tag watchlist was removed from gene: ALG11.
Intellectual disability v3.0 ALG11 Louise Daugherty commented on gene: ALG11
Intellectual disability v2.468 ALG13 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG13.
Intellectual disability v2.468 ALG12 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG12.
Intellectual disability v2.468 ALG11 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG11.
Intellectual disability v2.468 ALG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG1.
Intellectual disability ALG12 BRIDGE consortium edited their review of ALG12
Intellectual disability ALG1 BRIDGE consortium edited their review of ALG1
Intellectual disability ALG12 BRIDGE consortium edited their review of ALG12
Intellectual disability ALG1 BRIDGE consortium edited their review of ALG1
Intellectual disability ALG12 BRIDGE consortium reviewed ALG12
Intellectual disability ALG1 BRIDGE consortium reviewed ALG1
Intellectual disability ALG11 Ellen McDonagh classified ALG11 as green
Intellectual disability ALG11 Ellen McDonagh classified ALG11 as green
Intellectual disability ALG11 Ellen McDonagh commented on ALG11