Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: METTL23

Red List (low evidence)

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Biallelic variants associated with syndromic ID. Published studies provide no or limited antenatal information with no consistent prenatal phenotype described.

--
PMID: 32878022 – Khan et al 2020 - homozygous missense variants identified in consanguineous Pakistani family with 3 affected siblings having ID, epilepsy, behavioural issues, hypotonia and dysmorphic features (prominent large-size eyes, eyebrows, ears, short upturned nose with flat nasal bridge, and thin upper lip). Authors report that prenatal, perinatal and neonatal medical records of all patients were normal.

PMID 32439618 – Smaili et al 2020 report two Moroccan siblings presenting with mild intellectual disability and dysmorphic features. WES identified homozygous METTL23 gene variants. Describe uneventful pregnancies and postnatal course. Macrocephaly reported in both siblings (HC 52cm in a 7 year old M and 50cm in 6 yo F) - no information regarding HC of parents provided, macrocephaly not a consistently reported feature of this condition.

PMID: 32067349 – Almannai et al 2020 - 6 individuals from 4 families - 2 families unrelated, 2 families come from same Saudi tribe and are therefore likely to be distantly related with same homozygous METTL23 variant identified in both. No prenatal features or immediate postnatal issues described related to this condtion. One subject reported to have an MRI-B showing mild ventriculomegaly at a later age which may reflect mild white matter volume loss. This subject also had a 618 Kilobases duplication at 7p11.2 (57,261,112-57,878,853) identified on CGH array.

PMID: 24626631 – Bernkopf 2014 - describe 2 unrelated families. Provide no antenatal information or report no issues antenatally/at birth apart from one baby being large and cyanosed postnatally

PMID: 24501276 – Reiff et al 2014 - report 7 affected members of a large, consanguineous Arab family with ID and mild dysmorphic features. X1 patient had cleft uvula and submucosal cleft palate.
Sources: Literature
Created: 7 Feb 2022, 5:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 44 - #615942

Publications

Details

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

History Filter Activity

8 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mettl23 has been classified as Red List (Low Evidence).

8 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mettl23 has been classified as Red List (Low Evidence).

7 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: METTL23 was added gene: METTL23 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: METTL23 were set to 32878022; 32439618; 32067349; 24626631; 24501276 Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44 - #615942 Review for gene: METTL23 was set to RED