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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 10 panels

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

De novo variants and PTCs in females are severe, while inherited missense are milder. Females with these missense may be asymptomatic or show mild intellectual disability (PMID: 31415821). Autistic features are common.

Missense can be both GOF or LOF.

More than 20 unrelated families reported.

ClinGen: Definitive gene-disease association - The affected individuals, including both males and females, typically have intellectual disability with variable seizures, autistic traits, and psychiatric problems. Males are generally more severely affected compared with females.
Created: 12 Mar 2025, 4:33 a.m. | Last Modified: 12 Mar 2025, 4:37 a.m.
Panel Version: 1.1568

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
Intellectual developmental disorder, X-linked 1; MIM#309530

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 1 MIM#309530
OMIM
300522
Clinvar variants
Variants in IQSEC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: iqsec2 has been classified as Green List (High Evidence).

13 Mar 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: IQSEC2 were set to

3 Jul 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530 (3) to Intellectual developmental disorder, X-linked 1 MIM#309530

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mental retardation, X-linked 1, 309530 (3) for gene: IQSEC2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IQSEC2 was added gene: IQSEC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)