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  3. THUMPD1
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Fetal anomalies

Gene: THUMPD1

Green List (high evidence)
THUMPD1 (THUMP domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000066654
EnsemblGeneIds (GRCh37): ENSG00000066654
OMIM: 616662, Gene2Phenotype
THUMPD1 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

Natalie Canham (Liverpool Women's Hospital)

Green List (high evidence)

ACC in some. 13 individuals from 8 families
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 speech delay and variable ocular anomalies, OMIM:619989

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 speech delay and variable ocular anomalies, OMIM:619989
OMIM
616662
Clinvar variants
Variants in THUMPD1
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 speech delay and variable ocular anomalies, OMIM:619989 for gene: THUMPD1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: THUMPD1 was added gene: THUMPD1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal