Non-syndromic familial congenital anorectal malformations

Gene: MID1

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Opitz GBBB

I don't know

Comment on phenotypes: Added Gene2Phenotype phenotype

Created: 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 list

Created: 16 Oct 2018, 9:42 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females