Genes in panel

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
OMIM
616662
Clinvar variants
Variants in THUMPD1
Penetrance
None
Panels with this gene

History Filter Activity

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