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DDG2P

Gene: ERI1

Green List (high evidence)
ERI1 (exoribonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000104626
EnsemblGeneIds (GRCh37): ENSG00000104626
OMIM: 608739, Gene2Phenotype
ERI1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ERI1-related severe growth restriction and skeletal dysplasia are moderate, biallelic_autosomal and loss of function (PMID:37352860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03515. The DDG2P confidence category, allelic requirement and molecular mechanism for ERI1-related brachydactyly and mild neurodevelopmental delay are moderate, biallelic_autosomal and loss of function (PMIDs: 28488351, 36208065, 37352860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03516.
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 ERI1-related severe growth restriction and skeletal dysplasia is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 37352860). The DDG2P confidence category for the disease ERI1-related brachydactyly and mild neurodevelopmental delay is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and decreased gene product level (PMID: 37352860;36208065;28488351).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ERI1-related brachydactyly and mild neurodevelopmental delay; OMIM:620662.0; MONDO:0958005; ERI1-related severe growth restriction and skeletal dysplasia; MONDO:0958006; OMIM:620663.0

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ERI1-related brachydactyly and mild neurodevelopmental delay
  • ERI1-related severe growth restriction and skeletal dysplasia
OMIM
608739
Clinvar variants
Variants in ERI1
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: ERI1 was changed from Other to None

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ERI1 was added gene: ERI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 36208065; 37352860; 28488351 Phenotypes for gene: ERI1 were set to ERI1-related brachydactyly and mild neurodevelopmental delay; ERI1-related severe growth restriction and skeletal dysplasia Mode of pathogenicity for gene: ERI1 was set to Other