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Intellectual disability syndromic and non-syndromic

Gene: MID2

Red List (low evidence)

MID2 (midline 2)
EnsemblGeneIds (GRCh38): ENSG00000080561
EnsemblGeneIds (GRCh37): ENSG00000080561
OMIM: 300204, Gene2Phenotype
MID2 is in 1 panel

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 family with 11 males with ID and hemizygous missense mutation in the MID2 gene; however, functional assays indicated that this mutation may not be disease causing.
Created: 5 Dec 2019, 1:05 a.m. | Last Modified: 5 Dec 2019, 1:05 a.m.
Panel Version: 0.425

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

Phenotypes
?Mental retardation, X-linked 101; OMIM#300928

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Mental retardation, X-linked 101
  • OMIM#300928
OMIM
300204
Clinvar variants
Variants in MID2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mid2 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: mid2 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MID2. Source Expert list was added to MID2. Mode of inheritance for gene MID2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MID2 were changed from to ?Mental retardation, X-linked 101; OMIM#300928 Publications for gene MID2 were changed from PubMed: 24115387 to PubMed: 24115387

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MID2 was added gene: MID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MID2 was set to Unknown