Clefting
Gene: METTL23

METTL23 (methyltransferase like 23)
EnsemblGeneIds (GRCh38): ENSG00000181038
EnsemblGeneIds (GRCh37): ENSG00000181038
OMIM: 615262, Gene2Phenotype
METTL23 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

1 patient with submucosal cleft palate reported in PMID 24501276- appears to be isolated case so rated RED.
Created: 31 May 2017, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 44, 615942; MRT44

Publications

24501276

Created: 31 May 2017, 11 a.m.

Panel version: 0.284

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Mental retardation, autosomal recessive 44, 615942
MRT44

OMIM

615262

Clinvar variants

Variants in METTL23

Penetrance

Complete

Publications

24501276

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

METTL23 was created by ellenmcdonagh