Intellectual disability syndromic and non-syndromic
Gene: SECISBP2

SECISBP2 (SECIS binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000187742
EnsemblGeneIds (GRCh37): ENSG00000187742
OMIM: 607693, Gene2Phenotype
SECISBP2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four individuals reported with bi-allelic variants and ID/seizures/autism phenotype.
Created: 3 Oct 2024, 6:11 a.m. | Last Modified: 3 Oct 2024, 6:11 a.m.

Panel Version: 0.6310

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid hormone metabolism, abnormal, 1, MIM# 609698

Publications

39315526

Created: 3 Oct 2024, 6:11 a.m.
Last Modified: 3 Oct 2024, 6:11 a.m.
Panel version: 0.6310

Anna Le Fevre (Victorian Clinical Genetics Services)

Red List (low evidence)

Multiple families with biallelic loss of function variants have been reported with a disorder of thyroid hormone metabolism involving synthesis of selenoproteins. Features include short stature with delayed bone age, muscle weakness with fatty infiltration of skeletal muscle, azoospermia, and mild developmental delay. Photosensitivity and high frequency SNHL have been reported. Thyroid function tests show elevated FT4 and rT3, low FT3 and normal or mildly elevated TSH. Incomplete loss of SECISBP2 function has been hypothesized to cause a milder phenotype.

At least two reports of children with delayed milestones.
One report of an affected adult with mild ID.
Further reports may clarify if this phenotype typically includes ID.
Sources: Literature
Created: 28 Sep 2020, 6:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#609698 THYROID HORMONE METABOLISM, ABNORMAL

Publications

Created: 28 Sep 2020, 6:01 a.m.

Panel version: 0.3026

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Thyroid hormone metabolism, abnormal, 1, MIM# 609698

OMIM

607693

Clinvar variants

Variants in SECISBP2

Penetrance

unknown

Publications

Panels with this gene