Early onset or syndromic epilepsy
Gene: HID1Removed 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
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
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: LiteratureCreated: 9 Jul 2021, 5:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic infantile encephalopathy; Hypopituitarism
Publications
Tag Q3_21_rating was removed from gene: HID1.
Source Expert Review Green was added to HID1. Source NHS GMS was added to HID1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Syndromic infantile encephalopathy; Hypopituitarism; Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
Tag gene-checked was removed from gene: HID1.
Tag gene-checked tag was added to gene: HID1.
gene: HID1 was added gene: HID1 was added to Genetic epilepsy syndromes. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: HID1. Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HID1 were set to 33999436 Phenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism