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Mendeliome

Gene: HIVEP2

Green List (high evidence)

HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000010818
EnsemblGeneIds (GRCh37): ENSG00000010818
OMIM: 143054, Gene2Phenotype
HIVEP2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported, most variants are LOF, supportive mouse model.
Created: 4 Dec 2020, 6:15 a.m. | Last Modified: 4 Dec 2020, 6:15 a.m.
Panel Version: 0.5527

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 43, MIM# 616977

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Goldsmith (2019) suggests missense may have a dominant negative mechanism, but has no supporting evidence. Very few reported and analyzed by in silico only
Created: 4 Dec 2020, 1:27 a.m. | Last Modified: 4 Dec 2020, 1:27 a.m.
Panel Version: 0.5527

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 43 MIM#616977

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 43 MIM#616977
OMIM
143054
Clinvar variants
Variants in HIVEP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hivep2 has been classified as Green List (High Evidence).

4 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HIVEP2 were changed from to Mental retardation, autosomal dominant 43 MIM#616977

4 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HIVEP2 were set to

4 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HIVEP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HIVEP2 was added gene: HIVEP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HIVEP2 was set to Unknown