Non-syndromic familial congenital anorectal malformations
Gene: MID1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Opitz GBBB
Comment on phenotypes: Added Gene2Phenotype phenotypeCreated: 1 Nov 2018, 2:08 p.m.
Comment on list classification: Rating as green as more than 3 cases/families with plausible disease causing variants in the MID1 gene.Created: 16 Oct 2018, 9:58 a.m.
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).
Note that OMIM lists SPECC1L as part of a phenotypic series with MID1. However, the documented cases of Opitz GBBB syndrome, type II caused by SPECC1L don't appear to have an anorectal malformation phenotype.Created: 16 Oct 2018, 9:55 a.m.
Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Sources: Expert listCreated: 16 Oct 2018, 9:42 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Eleanor Williams: Gene added from expert list fr
Gene: mid1 has been classified as Green List (High Evidence).
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
Publications for gene: MID1 were set to
Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I 300000
Gene: mid1 has been classified as Green List (High Evidence).
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