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Monogenic hearing loss

Gene: RFC4

Green List (high evidence)
RFC4 (replication factor C subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000163918
EnsemblGeneIds (GRCh37): ENSG00000163918
OMIM: 102577, Gene2Phenotype
RFC4 is in 2 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 10:28 a.m. | Last Modified: 12 Dec 2025, 10:28 a.m.
Panel Version: 5.49
Created: 12 Dec 2025, 10:28 a.m.
Last Modified: 12 Dec 2025, 10:28 a.m.
Panel version: 5.49

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the association of this gene with sensorineural hearing impairment. Hence, this gene should be promoted to green rating in the next GMS update.
Created: 23 Oct 2024, 4:38 p.m. | Last Modified: 23 Oct 2024, 4:38 p.m.
Panel Version: 4.57
PMID:39106866 reported nine individuals (aged birth to 47 years) from eight unrelated families with a multisystem disorder.

They presented with muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9).

They were identified with biallelic loss-of-function variants in RFC4 gene (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions and 2 missense)

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 23 Oct 2024, 4:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sensorineural hearing loss disorder, MONDO:0020678

Publications

Created: 23 Oct 2024, 4:37 p.m.

Panel version: 4.56

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • sensorineural hearing loss disorder, MONDO:0020678
OMIM
102577
Clinvar variants
Variants in RFC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2025, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: RFC4.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Green was added to RFC4. Source NHS GMS was added to RFC4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: rfc4 has been classified as Amber List (Moderate Evidence).

23 Oct 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RFC4 was added gene: RFC4 was added to Monogenic hearing loss. Sources: Literature Q3_24_promote_green tags were added to gene: RFC4. Mode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFC4 were set to 39106866 Phenotypes for gene: RFC4 were set to sensorineural hearing loss disorder, MONDO:0020678 Review for gene: RFC4 was set to GREEN