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  3. METTL23
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Intellectual disability syndromic and non-syndromic

Gene: METTL23

Green List (high evidence)
METTL23 (methyltransferase like 23)
EnsemblGeneIds (GRCh38): ENSG00000181038
EnsemblGeneIds (GRCh37): ENSG00000181038
OMIM: 615262, Gene2Phenotype
METTL23 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

3 families reported.

Reiff et al. (2014) reported a consanguineous kindred of Yemeni origin in which 7 individuals had intellectual disability and dysmorphic features - homozygous truncating mutation.

Bernkopf et al. (2014) reported 2 unrelated consanguineous families with autosomal recessive mental retardation - 2 different homozygous truncating mutations in the METTL23 gene. Overexpression of the mutant proteins resulted in the formation of protein aggregates of isoforms 1 and 2 in the cytoplasm. However, Bernkopf et al. (2014) suggested loss of protein function as a pathogenic mechanism.
Sources: Expert list
Created: 6 Dec 2019, 4:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 44; OMIM#615942

Publications

Created: 6 Dec 2019, 4:10 a.m.

Panel version: Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.217

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

3 families reported.

Reiff et al. (2014) reported a consanguineous kindred of Yemeni origin in which 7 individuals had intellectual disability and dysmorphic features - homozygous truncating mutation.

Bernkopf et al. (2014) reported 2 unrelated consanguineous families with autosomal recessive mental retardation - 2 different homozygous truncating mutations in the METTL23 gene. Overexpression of the mutant proteins resulted in the formation of protein aggregates of isoforms 1 and 2 in the cytoplasm. However, Bernkopf et al. (2014) suggested loss of protein function as a pathogenic mechanism.
Created: 5 Dec 2019, 12:54 a.m. | Last Modified: 5 Dec 2019, 12:54 a.m.
Panel Version: 0.418

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 44; OMIM#615942

Publications

Created: 5 Dec 2019, 12:54 a.m.
Last Modified: 5 Dec 2019, 12:54 a.m.
Panel version: 0.418

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Mental retardation, autosomal recessive 44
  • OMIM#615942
OMIM
615262
Clinvar variants
Variants in METTL23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mettl23 has been classified as Green List (High 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 METTL23. Source Expert list was added to METTL23. Mode of inheritance for gene METTL23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: METTL23 were changed from to Mental retardation, autosomal recessive 44; OMIM#615942 Publications for gene METTL23 were changed from PubMed: 24501276; 24626631 to PubMed: 24501276; 24626631

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: METTL23 was added gene: METTL23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: METTL23 was set to Unknown