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Intellectual disability - microarray and sequencing v5.409 PRODH Arina Puzriakova Phenotypes for gene: PRODH were changed from Hyperprolinemia, type I, OMIM; 239500; {Schizophrenia, susceptibility to, OMIM:4}, 600850 to Hyperprolinemia, type I, OMIM:239500; {Schizophrenia, susceptibility to, OMIM:4}, 600850
Intellectual disability - microarray and sequencing v4.53 PRODH Arina Puzriakova Tag Q2_22_rating was removed from gene: PRODH.
Tag Q2_22_expert_review was removed from gene: PRODH.
Tag Q2_22_NHS_review was removed from gene: PRODH.
Intellectual disability - microarray and sequencing v4.53 PRODH Arina Puzriakova reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability - microarray and sequencing v4.52 PRODH Arina Puzriakova Source Expert Review Amber was added to PRODH.
Source NHS GMS was added to PRODH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.1578 PRODH Sarah Leigh edited their review of gene: PRODH: Added comment: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021
(https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z).; Changed rating: GREEN; Changed phenotypes to: Hyperprolinemia, type I, OMIM, 239500, hyperprolinemia type 1, MONDO:0009400
Intellectual disability - microarray and sequencing v3.1578 PRODH Sarah Leigh Tag Q2_22_NHS_review tag was added to gene: PRODH.
Intellectual disability - microarray and sequencing v3.1578 PRODH Sarah Leigh Tag Q2_22_rating tag was added to gene: PRODH.
Tag Q2_22_expert_review tag was added to gene: PRODH.
Intellectual disability - microarray and sequencing v3.1578 PRODH Sarah Leigh Phenotypes for gene: PRODH were changed from Hyperprolinemia, type I, 239500; {Schizophrenia, susceptibility to, 4}, 600850 to Hyperprolinemia, type I, OMIM; 239500; {Schizophrenia, susceptibility to, OMIM:4}, 600850
Intellectual disability - microarray and sequencing v3.1577 PRODH Sarah Leigh Publications for gene: PRODH were set to 12217952
Intellectual disability - microarray and sequencing v3.1561 PRODH Tracy Lester reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disabilty; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v2.468 PRODH Louise Daugherty Source Victorian Clinical Genetics Services was added to PRODH.
Intellectual disability - microarray and sequencing PRODH Sarah Leigh classified PRODH as green
Intellectual disability - microarray and sequencing PRODH Sarah Leigh commented on PRODH
Intellectual disability - microarray and sequencing PRODH Sarah Leigh classified PRODH as green