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DDG2P

Gene: SART3

Green List (high evidence)
SART3 (squamous cell carcinoma antigen recognized by T-cells 3)
EnsemblGeneIds (GRCh38): ENSG00000075856
EnsemblGeneIds (GRCh37): ENSG00000075856
OMIM: 611684, Gene2Phenotype
SART3 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) are moderate, biallelic_autosomal and loss of function (PMID:37296101). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03514.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37296101).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0100038; SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON)

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON)
Tags
gene-checked
OMIM
611684
Clinvar variants
Variants in SART3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: SART3.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SART3 was added gene: SART3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SART3 were set to 37296101 Phenotypes for gene: SART3 were set to SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) Mode of pathogenicity for gene: SART3 was set to Other