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Early onset or syndromic epilepsy

Gene: HID1

Green List (high evidence)

HID1 (HID1 domain containing)
EnsemblGeneIds (GRCh38): ENSG00000167861
EnsemblGeneIds (GRCh37): ENSG00000167861
OMIM: 605752, Gene2Phenotype
HID1 is in 3 panels

3 reviews

Eleanor Williams (Genomics England Curator)

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

Arina Puzriakova (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic infantile encephalopathy
  • Hypopituitarism
  • Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
OMIM
605752
Clinvar variants
Variants in HID1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from gene: HID1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

21 Nov 2022, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

21 Nov 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked was removed from gene: HID1.

4 May 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: HID1.

15 Sep 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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