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Intellectual disability - microarray and sequencing v4.59 THUMPD1 Eleanor Williams Added comment: Comment on mode of inheritance: Adding the mode of inheritance of biallelic as this was missing. Autosomal recessive MOI in OMIM for a relevant phenotype.
Intellectual disability - microarray and sequencing v4.59 THUMPD1 Eleanor Williams Mode of inheritance for gene: THUMPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.58 THUMPD1 Eleanor Williams Phenotypes for gene: THUMPD1 were changed from THUMPD1 neurodevelopment disorder to Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989
Intellectual disability - microarray and sequencing v4.53 THUMPD1 Arina Puzriakova Tag Q2_22_rating was removed from gene: THUMPD1.
Tag Q2_22_NHS_review was removed from gene: THUMPD1.
Intellectual disability - microarray and sequencing v4.53 THUMPD1 Arina Puzriakova reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability - microarray and sequencing v4.52 THUMPD1 Arina Puzriakova Source NHS GMS was added to THUMPD1.
Source Expert Review Green was added to THUMPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1576 THUMPD1 Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM or MONDO, but as moderate Gen2Phen gene for THUMPD1 neurodevelopment disorder. At least 7 variants have been reported, together with supportive functional studies (PMID: 35196516).; to: Not associated with a phenotype in OMIM or MONDO, but as moderate Gen2Phen gene for THUMPD1 neurodevelopment disorder. At least 8 variants have been reported in at least 7 unrelated cases, together with supportive functional studies (PMID: 35196516).
Intellectual disability - microarray and sequencing v3.1576 THUMPD1 Sarah Leigh edited their review of gene: THUMPD1: Added comment: Not associated with a phenotype in OMIM or MONDO, but as moderate Gen2Phen gene for THUMPD1 neurodevelopment disorder. At least 7 variants have been reported, together with supportive functional studies (PMID: 35196516).; Changed rating: GREEN
Intellectual disability - microarray and sequencing v3.1576 THUMPD1 Sarah Leigh Added comment: Comment on phenotypes: Phenotype name based on Gen2Phen entry (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4827).
Intellectual disability - microarray and sequencing v3.1576 THUMPD1 Sarah Leigh Phenotypes for gene: THUMPD1 were changed from to THUMPD1 neurodevelopment disorder
Intellectual disability - microarray and sequencing v3.1575 THUMPD1 Sarah Leigh Classified gene: THUMPD1 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.1575 THUMPD1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Intellectual disability - microarray and sequencing v3.1575 THUMPD1 Sarah Leigh Gene: thumpd1 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.1574 THUMPD1 Sarah Leigh Tag Q2_22_rating tag was added to gene: THUMPD1.
Tag Q2_22_NHS_review tag was added to gene: THUMPD1.
Intellectual disability - microarray and sequencing v3.1574 THUMPD1 Sarah Leigh Publications for gene: THUMPD1 were set to
Intellectual disability - microarray and sequencing v3.1564 THUMPD1 Julia Baptista reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35196516; Phenotypes: Intellectual disability, Microcephaly, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability - microarray and sequencing v3.1518 THUMPD1 Konstantinos Varvagiannis reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237576, 35196516; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Hearing abnormality, Abnormality of the eye, Febrile seizures, Behavioral abnormality, Abnormality of brain morphology, Abnormality of the face; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes