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DDG2P

Gene: METTL5

Amber List (moderate evidence)

METTL5 (methyltransferase like 5)
EnsemblGeneIds (GRCh38): ENSG00000138382
EnsemblGeneIds (GRCh37): ENSG00000138382
METTL5 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P October 2019: Autosomal-Recessive Intellectual Disability and Microcephaly. G2P Allelic requirement: biallelic. G2P Mutation consequence: loss of function. G2P Disease confidence rating: probable.
Created: 26 Nov 2019, 12:02 p.m. | Last Modified: 26 Nov 2019, 12:02 p.m.
Panel Version: 1.152

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Autosomal-Recessive Intellectual Disability and Microcephaly
Clinvar variants
Variants in METTL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: METTL5 was added gene: METTL5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: METTL5 were set to 31564433 Phenotypes for gene: METTL5 were set to Autosomal-Recessive Intellectual Disability and Microcephaly