Non-syndromic familial congenital anorectal malformations

Gene: MID1

Green List (high evidence)

MID1 (midline 1)
EnsemblGeneIds (GRCh38): ENSG00000101871
EnsemblGeneIds (GRCh37): ENSG00000101871
OMIM: 300552, Gene2Phenotype
MID1 is in 5 panels

2 reviews

Charles Shaw-Smith (Royal Devon and Exeter NHS Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Opitz GBBB

Eleanor Williams (Genomics England Curator)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Opitz GBBB syndrome, type I 300000
  • OPITZ G/BBB SYNDROME, X-LINKED
OMIM
300552
Clinvar variants
Variants in MID1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Gene added from expert list fr

1 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mid1 has been classified as Green List (High Evidence).

1 Nov 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

16 Oct 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: MID1 were set to

16 Oct 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I 300000

16 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mid1 has been classified as Green List (High Evidence).

16 Oct 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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