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| Disorders of sex development v3.3 | MYRF | Arina Puzriakova Tag Q2_21_rating was removed from gene: MYRF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v3.3 | MYRF |
Arina Puzriakova Source Expert Review Green was added to MYRF. Source NHS GMS was added to MYRF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Disorders of sex development v3.2 | MYRF | Arina Puzriakova reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.37 | MYRF | Ivone Leong Classified gene: MYRF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.37 | MYRF | Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association and this gene should be promoted to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.37 | MYRF | Ivone Leong Gene: myrf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.36 | MYRF | Ivone Leong Tag Q2_21_rating tag was added to gene: MYRF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.36 | MYRF | Ivone Leong Phenotypes for gene: MYRF were changed from Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia to Cardiac-urogenital syndrome, OMIM:618280; gonadal hypoplasia; Mullerian duct hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.4 | MYRF | Zornitza Stark reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: None; Publications: 30985895, 29446546, 31069960, 30070761, 30532227; Phenotypes: Cardiac-urogenital syndrome, gonadal hypoplasia, Müllerian duct hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.1 | MYRF | Ivone Leong Classified gene: MYRF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.1 | MYRF | Ivone Leong Added comment: Comment on list classification: New gene added by reviewer. I have given this gene a Red rating as this was added after the panel has been signed-off by the GMS specialist group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.1 | MYRF | Ivone Leong Gene: myrf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.0 | MYRF |
Martina Owens gene: MYRF was added gene: MYRF was added to Disorders of sex development. Sources: Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to 30985895; 29446546; 31069960; 30070761; 30532227 Phenotypes for gene: MYRF were set to Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia Penetrance for gene: MYRF were set to unknown Review for gene: MYRF was set to AMBER Added comment: Hamanaka et al 2019 (PMID:30985895): enrichment study plus an independent cohort. Identified 3 de novo MYRF truncating variants in 4 DSD cases (3 families - 2 cases were monozygotic twins) and a de novo missense variant in 1 DSD case. Pinz et al 2018 (PMID: 29446546) reported de novo truncating MYRF variants in 2 male cases with genitourinary anomalies with congenital heart defects. Chitayat et al 2018 (PMID: 30070761) reported truncating variant in a patient with ambiguous genitalia and hypoplastic left heart syndrome. Qi et al 2018 (PMID: 30532227) reported 7 de novo patients with DSD, congenital heart defects and congenital diaphragmatic hernia. Rossetti et al 2019 (PMID: 31069960) reported above patients and 2 further patients with genitourinary anomalies and congenital diaphragmatic hernia. Sources: Literature |
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