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Prepair 1000+

Gene: MID1

Green List (high evidence)

MID1 (midline 1)
EnsemblGeneIds (GRCh38): ENSG00000101871
EnsemblGeneIds (GRCh37): ENSG00000101871
OMIM: 300552, Gene2Phenotype
MID1 is in 10 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

X-linked MID1 variants cause Opitz GBBB syndrome, characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects. Developmental delay and intellectual disability are observed in about 30% of affected males. Cleft lip and/or palate are present in approximately half of affected males. Other malformations (present in <50% of affected males) include congenital heart defects, imperforate or ectopic anus, and midline brain defects (Dandy-Walker malformation and agenesis or hypoplasia of the corpus callosum and/or cerebellar vermis). Wide clinical variability occurs even among members of the same family. Female heterozygotes usually manifest hypertelorism only.

HGNC approved symbol/name: MID1
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? Y (full gene deletions/duplications reported)
Created: 30 Dec 2024, 4:10 a.m. | Last Modified: 30 Dec 2024, 4:10 a.m.
Panel Version: 1.978

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Opitz GBBB syndrome MIM#300000; MONDO:0017138

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Opitz GBBB syndrome MIM#300000
  • MONDO:0017138
OMIM
300552
Clinvar variants
Variants in MID1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MID1 were changed from Opitz GBBB syndrome, type I, 300000 (3) to Opitz GBBB syndrome MIM#300000; MONDO:0017138

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MID1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Opitz GBBB syndrome, type I, 300000 (3) for gene: MID1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MID1 was added gene: MID1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)