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  2. Pituitary hormone deficiency
  3. HID1
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Pituitary hormone deficiency

Gene: HID1

Green List (high evidence)
HID1 (HID1 domain containing)
EnsemblGeneIds (GRCh38): ENSG00000167861
EnsemblGeneIds (GRCh37): ENSG00000167861
OMIM: 605752, Gene2Phenotype
HID1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 8 Jul 2021, 4:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic infantile encephalopathy; Hypopituitarism

Publications

Created: 8 Jul 2021, 4:34 a.m.

Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic infantile encephalopathy
  • Hypopituitarism
OMIM
605752
Clinvar variants
Variants in HID1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hid1 has been classified as Green List (High Evidence).

8 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hid1 has been classified as Green List (High Evidence).

8 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HID1 was added gene: HID1 was added to Pituitary hormone deficiency. 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