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Fetal anomalies

Gene: ADAT3

Green List (high evidence)
ADAT3 (adenosine deaminase, tRNA specific 3)
EnsemblGeneIds (GRCh38): ENSG00000213638
EnsemblGeneIds (GRCh37): ENSG00000213638
OMIM: 615302, Gene2Phenotype
ADAT3 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
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: 6.150

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

Green on ID panel; intellectual disability-strabismus syndrome. p.Val144Met founder mutation in over 90% of reported patients, with 55 patients from 29 consanguineous families, predominantly from Middle Eastern countries (Alazami et al., PMID: 23620220; Del-Pozo-Rodriguez et al., PMID: 40120092), along with two missense variants (p.Ala196Val, p.Ala196Leu) (Ramos et al., PMID: 32763916; Thomas et al., PMID: 31687266), one frameshift variant (8-bp duplication causing p.Glu36Glyfs44) (Chaleshtori et al., PMID: 29796286), and one nonsense variant (p.Gln274*) (PMID: 32763916), found in homozygous and compound heterozygous states. Strong segregation evidence with maximum points awarded demonstrates co-segregation of variants with disease phenotype across multiple affected families. Clinical features consistently include intellectual disability (100%) and absent or severely delayed speech, with variable features such as microcephaly, seizures, muscle tone defects, and other features such as failure to thrive, strabismus, and dysmorphic facial features. PMID: 40579404 includes features which could be detectable prenatally.
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
Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286

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 Green
Phenotypes
  • Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286
OMIM
615302
Clinvar variants
Variants in ADAT3
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 for gene: ADAT3

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ADAT3 was added gene: ADAT3 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal