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Intellectual disability

Gene: HECW2

Green List (high evidence)

HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2)
EnsemblGeneIds (GRCh38): ENSG00000138411
EnsemblGeneIds (GRCh37): ENSG00000138411
OMIM: 617245, Gene2Phenotype
HECW2 is in 6 panels

1 review

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Gene2Phenotype confirmed gene with ID HPO terms – Intellectual disability and Seizures
Sarah Leigh (Genomics England Curator), 4 Jan 2018

Comment on phenotypes: added updated OMIM phenotype
Louise Daugherty (Genomics England Curator), 21 Dec 2017

Comment when marking as ready: Appropriate phenotype: neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) presents with hypotonia and significant developmental delay. Missense reported to date.
Helen Brittain (Genomics England Curator), 21 Dec 2017

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Louise Daugherty (Genomics England Curator), 28 Jul 2017

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 : all missense/in frame
BRIDGE consortium (NIHRBR-RD), 27 Jul 2017
Created: 11 Feb 2021, 4 p.m. | Last Modified: 11 Feb 2021, 4 p.m.
Panel Version: 3.868

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268
OMIM
617245
Clinvar variants
Variants in HECW2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HECW2 were changed from Neurodevelopmental disorder with hypotonia, seizures, and absent language to Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268

11 Feb 2021, Gel status: 3

Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

Mode of pathogenicity for gene: HECW2 was changed from to Other

11 Feb 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HECW2 were set to

11 Feb 2021, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: HECW2 was added gene: HECW2 was added to Intellectual disability. Sources: Expert Review Green,BRIDGE study SPEED NEURO Tier1 Gene,Victorian Clinical Genetics Services Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HECW2 were set to Neurodevelopmental disorder with hypotonia, seizures, and absent language