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  2. Frontonasal dysplasia
  3. MID1
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Frontonasal dysplasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, phenotypic overlap with FND.
Created: 18 Jan 2021, 11:40 p.m. | Last Modified: 18 Jan 2021, 11:40 p.m.
Panel Version: 0.14

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

Phenotypes
Opitz GBBB syndrome, type I, MIM# 300000

Created: 18 Jan 2021, 11:40 p.m.
Last Modified: 18 Jan 2021, 11:40 p.m.
Panel version: 0.14

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Opitz GBBB syndrome, type I, MIM# 300000
OMIM
300552
Clinvar variants
Variants in MID1
Penetrance
None
Panels with this gene

History Filter Activity

18 Jan 2021, 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).

18 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MID1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MID1 was added gene: MID1 was added to Frontonasal dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MID1 was set to Unknown