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  3. REPS1
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Neurodegeneration with brain iron accumulation

Gene: REPS1

Red List (low evidence)
REPS1 (RALBP1 associated Eps domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000135597
EnsemblGeneIds (GRCh37): ENSG00000135597
OMIM: 614825, Gene2Phenotype
REPS1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two siblings reported with compound het missense variants in this gene and a neurodegenerative course in childhood.
Sources: Literature
Created: 10 Mar 2023, 4:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with brain iron accumulation 7 , MIM# 617916

Publications

Created: 10 Mar 2023, 4:25 a.m.

Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation 7 , MIM# 617916
OMIM
614825
Clinvar variants
Variants in REPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: reps1 has been classified as Red List (Low Evidence).

10 Mar 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: REPS1 was added gene: REPS1 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: REPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REPS1 were set to 29395073 Phenotypes for gene: REPS1 were set to Neurodegeneration with brain iron accumulation 7 , MIM# 617916 Review for gene: REPS1 was set to RED