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Intellectual disability syndromic and non-syndromic

Gene: MGME1

Red List (low evidence)

MGME1 (mitochondrial genome maintenance exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000125871
EnsemblGeneIds (GRCh37): ENSG00000125871
OMIM: 615076, Gene2Phenotype
MGME1 is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Only 2 families reported with mitochondrial disorder: 1st family with 3 sibs with ID, 2nd family with 2 sibs but no ID
Created: 5 Dec 2019, 1 a.m. | Last Modified: 5 Dec 2019, 1 a.m.
Panel Version: 0.421

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 11; OMIM#615084

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 11
  • OMIM#615084
OMIM
615076
Clinvar variants
Variants in MGME1
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: mgme1 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: mgme1 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 MGME1. Source Expert list was added to MGME1. Mode of inheritance for gene MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11; OMIM#615084 Publications for gene MGME1 were changed from PubMed: 23313956 to PubMed: 23313956

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MGME1 was added gene: MGME1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MGME1 was set to Unknown