1. Panels
  2. DDG2P
  3. IQSEC1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: IQSEC1

Green List (high evidence)
IQSEC1 (IQ motif and Sec7 domain 1)
EnsemblGeneIds (GRCh38): ENSG00000144711
EnsemblGeneIds (GRCh37): ENSG00000144711
OMIM: 610166, Gene2Phenotype
IQSEC1 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for IQSEC1-related intellectual disability, developmental delay, and short stature are strong, biallelic_autosomal and undetermined (PMID:31607425). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02832.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Intellectual Disability, Developmental Delay, and Short Stature is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:31607425).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
IQSEC1-related intellectual disability, developmental delay, and short stature; OMIM:618687.0; Intellectual Disability, Developmental Delay, and Short Stature; MONDO:0032870

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Intellectual Disability, Developmental Delay, and Short Stature
OMIM
610166
Clinvar variants
Variants in IQSEC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: IQSEC1 was changed from Other to None

4 Oct 2023, 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: IQSEC1 was added gene: IQSEC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQSEC1 were set to 31607425 Phenotypes for gene: IQSEC1 were set to Intellectual Disability, Developmental Delay, and Short Stature Mode of pathogenicity for gene: IQSEC1 was set to Other