Cerebral Palsy

Gene: IQSEC2

I don't know

Additional 2 individuals reported with pathogenic LOF variants (1 hemi male and 1 het female) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Hypotonia and spasticity have been reported in some patients with IQSEC2 variants.

Created: 24 Jun 2024, 6:44 a.m. | Last Modified: 24 Jun 2024, 6:44 a.m.

Panel Version: 1.294

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 MIM#309530

Publications

• PMID: 38693247

Green List (high evidence)

3 Cases with hemizygous de novo mutations in a large CP cohort study.

Created: 8 Jun 2023, 2:31 a.m. | Last Modified: 8 Jun 2023, 2:31 a.m.

Panel Version: 1.86

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder MIM#09530

Publications

• 33528536

Red List (low evidence)

More than 20 unrelated families reported. Typical features are ID, microcephaly and hand stereotypies. Phenotypic overlap with Angelman-Rett-like syndromes rather than CP.
Sources: Expert list

Created: 25 Sep 2021, 4:19 a.m.

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, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347

Publications

• 33368194
• 20473311
• 23674175