Early onset or syndromic epilepsy

Gene: HID1

Removed the gene-checked tag as this gene now has a relevant phenotype in OMIM.

Created: 21 Nov 2022, 4:32 p.m. | Last Modified: 21 Nov 2022, 4:32 p.m.

Panel Version: 2.606

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.

Panel Version: 3.29

Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to promote this gene to Green at the next GMS panel update.

Created: 15 Sep 2021, 11:18 a.m. | Last Modified: 15 Sep 2021, 11:18 a.m.

Panel Version: 3.1273

Schänzer et al., 2021 (PMID: 33999436) identified 7 patients of 6 unrelated families with biallelic HID1 variants. Individuals from 5 families presented with epilepsy and muscular hypotonia within the first months of life, and none reached any psychomotor milestones (e.g. turning, sitting, speaking). The other individual had no seizures by age 24 and was less severely affected, but had DD with no speech and walking with aid. Pituitary glands appeared small in all patients, and all developed clinical symptoms related to hypopituitarism and hormone deficiencies within the first months of life.

Created: 15 Sep 2021, 11:17 a.m. | Last Modified: 15 Sep 2021, 11:17 a.m.

Panel Version: 3.1272

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 33999436

Green List (high evidence)

7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy.
Sources: Literature

Created: 9 Jul 2021, 5:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic infantile encephalopathy; Hypopituitarism

Publications

• 33999436