1. Panels
  2. Fetal anomalies
  3. ALKBH8
Genes in panel
Prev Next

Fetal anomalies

Gene: ALKBH8

Amber List (moderate evidence)
ALKBH8 (alkB homolog 8, tRNA methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000137760
EnsemblGeneIds (GRCh37): ENSG00000137760
OMIM: 613306, Gene2Phenotype
ALKBH8 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Green in ID panel, usually diagnosed postnatally, some minor anomalies which may be detectable prenatally but nothing consistent; 40721351, Found in one fetus with Ventriculomegaly, cerebellum absent, lemon-shaped head, spina bifida; think not enough evidence to include yet
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 71, OMIM:618504

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 71, OMIM:618504
OMIM
613306
Clinvar variants
Variants in ALKBH8
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 for gene: ALKBH8

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ALKBH8 was added gene: ALKBH8 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal