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Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Marked gene: MID1 as ready
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Gene: mid1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Added comment: Comment on phenotypes: Added Gene2Phenotype phenotype
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Phenotypes for gene: MID1 were changed from Opitz GBBB syndrome, type I 300000 to Opitz GBBB syndrome, type I 300000; OPITZ G/BBB SYNDROME, X-LINKED
Non-syndromic familial congenital anorectal malformations v0.103 MID1 Charles Shaw-Smith reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Opitz GBBB; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 MID1 Charles Shaw-Smith reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.97 MID1 Eleanor Williams Publications for gene: MID1 were set to
Non-syndromic familial congenital anorectal malformations v0.96 MID1 Eleanor Williams Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I 300000
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Classified gene: MID1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Added comment: Comment on list classification: Rating as green as more than 3 cases/families with plausible disease causing variants in the MID1 gene.
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Gene: mid1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.94 MID1 Eleanor Williams commented on gene: MID1: MID1 is associated with Opitz GBBB syndrome, type I in OMIM and Gene2phenotype (confirmed). The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects.
Numerous cases of mutations in the MID1 genes in Opitz syndrome patients have been identified (Quaderi et al. (1997)(PMID: 9354791), Cox et al. (2000)(PMID:11030761), Pinson et al. (2004)(PMID: 15121778),  De Falco et al. (2003)(PMID:12833403), So et al. (2005)(PMID:15558842)). Although all patients with Opitz GBBB syndrome to not show anorectal malformations, at least 3 cases with anal abnormalities have been reported (in Cox et al, Pinson et al and De Falco et al, So et al).
Non-syndromic familial congenital anorectal malformations v0.94 MID1 Eleanor Williams gene: MID1 was added
gene: MID1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Review for gene: MID1 was set to AMBER
Added comment: Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Sources: Expert list