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DDG2P

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 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for HECW2-related neurodevelopmental disorder (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 27334371, 27389779, 29395664, 29807643, 32814609, 33205896, 34047014, 34321324, 34327820, 35987951, 37280227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01893. The DDG2P confidence category, allelic requirement and molecular mechanism for HECW2-related neurodevelopmental disorder (biallelic) are limited, biallelic_autosomal and undetermined (PMIDs: 35487419, 35753050). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03392.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease HECW2-related neurodevelopmental disorder, OMIM:617268 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 34321324;27334371;27389779). The DDG2P confidence category for the disease HECW2-associated neurodevelopmental disorder is limited. The allelic requirement and mutation consequence are biallelic_autosomal and decreased gene product level (PMID:35753050).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
HECW2-related neurodevelopmental disorder (monoallelic); HECW2-associated neurodevelopmental disorder; HECW2-related neurodevelopmental disorder, OMIM:617268; HECW2-related neurodevelopmental disorder (biallelic); OMIM:617268.0; MONDO:0014995

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Curated DDG2P update on Jan 21st 2019: Changed phenotype from 'HECW2' to 'Neurodevelopmental disorder with hypotonia, seizures, and absent language'. Rating remains as: confirmed. MOI remains as: monoallelic. MOP remains as: all missense/in frame.
Created: 21 Jan 2019, 12:40 p.m.
Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language
OMIM
617245
Clinvar variants
Variants in HECW2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: HECW2 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene HECW2 was changed from Other - please provide details in the comments to Other Publications for gene: HECW2 were updated from 27334371; 27389779 to 35753050; 34321324; 27334371; 27389779

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

21 Jan 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HECW2 was added gene: HECW2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HECW2 were set to 27334371; 27389779 Phenotypes for gene: HECW2 were set to HECW2 Mode of pathogenicity for gene: HECW2 was set to Other - please provide details in the comments