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Intellectual disability v5.315 | DOCK8 | Dmitrijs Rots reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v4.53 | DOCK8 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: DOCK8. Tag Q3_22_MOI was removed from gene: DOCK8. Tag Q3_22_NHS_review was removed from gene: DOCK8. Tag Q3_22_expert_review was removed from gene: DOCK8. |
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Intellectual disability v4.53 | DOCK8 | Arina Puzriakova reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v4.52 | DOCK8 |
Arina Puzriakova Source Expert Review Amber was added to DOCK8. Source NHS GMS was added to DOCK8. Mode of inheritance for gene DOCK8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Intellectual disability v3.1742 | DOCK8 | Eleanor Williams Tag Q3_22_MOI tag was added to gene: DOCK8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1742 | DOCK8 | Eleanor Williams Tag Q3_22_MOI was removed from gene: DOCK8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1711 | DOCK8 |
Sarah Leigh Tag Q3_22_rating tag was added to gene: DOCK8. Tag Q3_22_MOI tag was added to gene: DOCK8. Tag Q3_22_NHS_review tag was added to gene: DOCK8. Tag Q3_22_expert_review tag was added to gene: DOCK8. |
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Intellectual disability v3.1711 | DOCK8 | Sarah Leigh Added comment: Comment on phenotypes: Biallelic DOCK8 variants are associated with Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700;combined immunodeficiency due to DOCK8 deficiency, MONDO:0009478 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1711 | DOCK8 | Sarah Leigh Phenotypes for gene: DOCK8 were changed from Mental retardation, autosomal dominant 2, 614113Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700; HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE (AR-HIES) to Intellectual developmental disorder, autosomal dominant 2, OMIM:614113 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1710 | DOCK8 | Sarah Leigh reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 2, OMIM:614113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1710 | DOCK8 | Sarah Leigh Publications for gene: DOCK8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v3.1696 | DOCK8 | Tracy Lester reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: 18060736, 1764478, 27891178, 19776401; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability v2.468 | DOCK8 | Louise Daugherty Source Victorian Clinical Genetics Services was added to DOCK8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability | DOCK8 | BRIDGE consortium edited their review of DOCK8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability | DOCK8 | BRIDGE consortium edited their review of DOCK8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability | DOCK8 | BRIDGE consortium reviewed DOCK8 |