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Intellectual disability

Gene: HID1

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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
  • Expert Review Amber
Phenotypes
  • Syndromic infantile encephalopathy
  • Hypopituitarism
Tags
Q3_21_rating
OMIM
605752
Clinvar variants
Variants in HID1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Sep 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to HID1.

15 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hid1 has been classified as Amber List (Moderate Evidence).

9 Jul 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HID1 was added gene: HID1 was added to Intellectual disability. Sources: Literature 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 Review for gene: HID1 was set to GREEN