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DDG2P

Gene: IQSEC2

Green List (high evidence)
IQSEC2 (IQ motif and Sec7 domain 2)
EnsemblGeneIds (GRCh38): ENSG00000124313
EnsemblGeneIds (GRCh37): ENSG00000124313
OMIM: 300522, Gene2Phenotype
IQSEC2 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for IQSEC2-related intellectual developmental disorder are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 20473311, 21686261, 23674175, 24306141, 26733290, 26793055, 27665735, 28295038, 28815955, 29026562, 30206421, 30666632, 30842726, 31415821, 31439632, 31490346, 31829726, 32529990, 32564198, 32761587, 33494955, 34484768, 35347702, 35446980, 36012761, 36267700, 36444437, 36684544, 37761403). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00063.
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 DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530 is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMIDs: 31415821;23674175;24306141;26793055;27665735;20473311;31829726;29026562;28295038;28815955;30666632;30206421;26733290;31490346).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
MONDO:0010656; INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530; OMIM:309530.0; IQSEC2-related intellectual developmental disorder

Publications

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

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 1 309530
OMIM
300522
Clinvar variants
Variants in IQSEC2
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: IQSEC2 was changed from Other - please provide details in the comments to None

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IQSEC2 were updated from 3177466; 7943039; 20473311 to 29026562; 24306141; 26733290; 26793055; 27665735; 30206421; 23674175; 31415821; 3177466; 31490346; 7943039; 31829726; 28295038; 20473311; 28815955; 30666632

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: IQSEC2 was added gene: IQSEC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IQSEC2 were set to 3177466; 7943039; 20473311 Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 309530 Mode of pathogenicity for gene: IQSEC2 was set to Other - please provide details in the comments