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Intellectual disability

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 3 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, appropriate phenotype
Created: 5 Mar 2018, 11:59 a.m.

Louise Daugherty (Genomics England Curator)

This is a confirmed gene in Gene2Phenotype for HIVEP2 associated syndromic developmental delay with intellectual disability
Created: 5 Mar 2018, 10:39 a.m.
Comment on list classification: Promoted gene status from Red to Green as there are more than three unrelated cases with Mental retardation, autosomal dominant 43.
Created: 5 Mar 2018, 10:22 a.m.
Comment on publications: This was a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, there is now evidence in the literature to support the association between variants of this gene and an observed intellectual disability.
Created: 5 Mar 2018, 10:22 a.m.
Comment on publications: Rauch et al. (2012) PMID: 23020937 identified a de novo heterozygous truncating mutation in the HIVEP2 gene in a woman born of unrelated German patients, with MRD43.
In 2 unrelated children with MRD43, Srivastava et al. (2016) PMID :26153216 identified de novo heterozygous truncating mutations in the HIVEP2 gene and then Steinfeld et al. (2016) PMID: 27003583 identified 6 different de novo heterozygous truncating mutations in the HIVEP2 gene 6 unrelated children with MRD43.
Created: 5 Mar 2018, 10:19 a.m.
Comment on mode of inheritance: MOI from PMID: 23020937 and 26153216
Created: 5 Mar 2018, 10:01 a.m.
Comment on phenotypes: added phenotype from OMIM
Created: 5 Mar 2018, 9:59 a.m.

Caroline Wright (Sanger)

Red List (low evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : NA
Created: 27 Jul 2017, 6:34 p.m.

Mode of inheritance
Unknown

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Mental retardation, autosomal dominant 43, 616977
  • MRD43
  • Intellectual disability
OMIM
143054
Clinvar variants
Variants in HIVEP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to HIVEP2. Panel: Intellectual disability Model of inheritance for gene HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene HIVEP2 was set to ['23020937', '26153216', '27003583', '26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HIVEP2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HIVEP2 was added to Intellectual disabilitypanel. Sources: Expert Review Red