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Intellectual disability - microarray and sequencing v3.1742 TGFB1 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Updated from 'monoallelic' to 'biallelic' inline with review by Zornitza Stark indicating two unrelated families with GDD/ID and biallelic variants in this gene. Added watchlist_moi tag to monitor for further cases. There was no evidence linking monoallelic variants to ID.; to: Comment on mode of inheritance: Updated from 'monoallelic' to 'biallelic' inline with review by Zornitza Stark indicating two unrelated families with GDD/ID and biallelic variants in this gene. Added watchlist_moi tag to monitor for further cases. Cognition is typically normal in Camurati-Engelmann disease (caused by monoallelic TGFB1 variants).
Intellectual disability - microarray and sequencing v3.1742 TGFB1 Arina Puzriakova Phenotypes for gene: TGFB1 were changed from Camurati-Engelmann disease, 131300; {Cystic fibrosis lung; disease, modifier of}, 219700 to Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213
Intellectual disability - microarray and sequencing v3.1741 TGFB1 Arina Puzriakova Publications for gene: TGFB1 were set to
Intellectual disability - microarray and sequencing v3.1740 TGFB1 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'monoallelic' to 'biallelic' inline with review by Zornitza Stark indicating two unrelated families with GDD/ID and biallelic variants in this gene. Added watchlist_moi tag to monitor for further cases. There was no evidence linking monoallelic variants to ID.
Intellectual disability - microarray and sequencing v3.1740 TGFB1 Arina Puzriakova Mode of inheritance for gene: TGFB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1739 TGFB1 Arina Puzriakova Tag watchlist_moi tag was added to gene: TGFB1.
Intellectual disability - microarray and sequencing v3.3 TGFB1 Zornitza Stark reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29483653; Phenotypes: Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing TGFB1 BRIDGE consortium edited their review of TGFB1
Intellectual disability - microarray and sequencing TGFB1 Louise Daugherty classified TGFB1 as amber
Intellectual disability - microarray and sequencing TGFB1 Louise Daugherty commented on TGFB1
Intellectual disability - microarray and sequencing TGFB1 BRIDGE consortium reviewed TGFB1