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Severe microcephaly v3.5 | HHAT | Arina Puzriakova Tag Q4_21_rating was removed from gene: HHAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v3.5 | HHAT | Arina Puzriakova edited their review of gene: HHAT: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v3.5 | HHAT | Arina Puzriakova changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v3.5 | HHAT | Arina Puzriakova commented on gene: HHAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v3.4 | HHAT |
Arina Puzriakova Source Expert Review Green was added to HHAT. Source NHS GMS was added to HHAT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Severe microcephaly v2.276 | HHAT | Eleanor Williams Tag Q4_21_rating tag was added to gene: HHAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.276 | HHAT | Eleanor Williams Classified gene: HHAT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.276 | HHAT | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, with a recommendation for green rating following GMS review. 3 cases with microcephaly progressing to severe microcephaly reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.276 | HHAT | Eleanor Williams Gene: hhat has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.275 | HHAT | Eleanor Williams Entity copied from Skeletal dysplasia v2.161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.275 | HHAT |
Eleanor Williams gene: HHAT was added gene: HHAT was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HHAT were set to 24784881; 30912300; 33749989 Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092 |