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Intellectual disability

Gene: EIPR1

Amber List (moderate evidence)
EIPR1 (EARP complex and GARP complex interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000032389
EnsemblGeneIds (GRCh37): ENSG00000032389
OMIM: 608998, Gene2Phenotype
EIPR1 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (six unrelated families) for the association of this gene with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 5 Jan 2026, 6:31 p.m. | Last Modified: 5 Jan 2026, 6:31 p.m.
Panel Version: 9.219
PMID:41058046 (2025) reported the identification of five EIPR1 homozygous missense variants (c.835C>G/ p.Arg279Gly, c.813C>G/ p.His271Gln, c.694C>T/ p.Arg232Trp, c.47G>A/ p.Arg16His and c.419T>A/ p.Val140Asp) in eight individuals from six unrelated families with a neurological disorder featuring a spectrum of global neurodevelopmental delay, microcephaly, ataxia, spasticity, delayed myelination, callosal hypoplasia, cerebellar atrophy, walking and speech impairments, dysmorphic facies, and neutropenia. All had global developmental delay, with significant motor delay (5/8 never attained walking). Severe or profound intellectual disability was present in 3 individuals from two unrelated families.

There is also functional evidence available from cellular studies using a heterologous transfection system, kin fibroblasts from one of the Arg279Gly affected individuals and zebrafish knockout model. Knockout of the orthologous eipr1 in zebrafish resulted in neurodevelopmental and locomotor defects consistent with the clinical phenotype of the human patients.

This gene has not yet been associated with any phenotypes in OMIM (last accessed 05 January 2026), Gene2Phenotype or ClinGen.
Sources: Literature
Created: 5 Jan 2026, 6:28 p.m. | Last Modified: 6 Jan 2026, 5:40 p.m.
Panel Version: 9.224

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 5 Jan 2026, 6:28 p.m.
Last Modified: 6 Jan 2026, 5:40 p.m.
Panel version: 9.218

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q1_26_promote_green
OMIM
608998
Clinvar variants
Variants in EIPR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: eipr1 has been classified as Amber List (Moderate Evidence).

5 Jan 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_26_promote_green tag was added to gene: EIPR1.

5 Jan 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EIPR1 was added gene: EIPR1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EIPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIPR1 were set to 41058046 Phenotypes for gene: EIPR1 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: EIPR1 was set to GREEN