Angelman Rett like syndromes
Gene: IQSEC2

IQSEC2 (IQ motif and Sec7 domain 2)
EnsemblGeneIds (GRCh38): ENSG00000124313
EnsemblGeneIds (GRCh37): ENSG00000124313
OMIM: 300522, Gene2Phenotype
IQSEC2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 unrelated families reported. Phenotypic overlap with Rett syndrome, PMID 33368194.
Created: 6 Jun 2021, 3:32 a.m. | Last Modified: 6 Jun 2021, 3:32 a.m.

Panel Version: 0.58

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
Mental retardation, X-linked 1/78, MIM# 309530

Publications

Created: 6 Jun 2021, 3:32 a.m.
Last Modified: 6 Jun 2021, 3:32 a.m.
Panel version: 0.58

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

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656
Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347

OMIM

300522

Clinvar variants

Variants in IQSEC2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Apr 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347

6 Jun 2021, Gel status: 3