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Intellectual disability

Gene: C20orf24

Red List (low evidence)
C20orf24 (chromosome 20 open reading frame 24)
EnsemblGeneIds (GRCh38): ENSG00000101084
EnsemblGeneIds (GRCh37): ENSG00000101084
C20orf24 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C20orf24 is RAB5IF
Created: 3 Jan 2024, 11:28 a.m. | Last Modified: 3 Jan 2024, 11:28 a.m.
Panel Version: 5.362
Comment on list classification: New gene added by Hannah Knight. Biallelic LoF variant identified in a patient with craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome. Authors suggested possible low penetrance due to two relatives with heterozygous variant and cleft lip and/or palate (PMID: 35614220).

Rating Red as only a single family reported to date. In OMIM the relationship between the phenotype and gene is provisional.
Created: 3 Jan 2024, 11:27 a.m. | Last Modified: 3 Jan 2024, 11:27 a.m.
Panel Version: 5.362
Created: 3 Jan 2024, 11:27 a.m.
Last Modified: 3 Jan 2024, 11:27 a.m.
Panel version: 5.362

Hannah Knight (NIHR BioResource - University of Cambridge)

HGNC Approved Gene Symbol: RAB5IF
PMID: 35614220 (2022) identified a homozygous nonsense variant (p.W25X) in a Turkish boy previously reported by PMID: 24194475 to have bilateral cleft lip, complete cleft palate, moderate to severe intellectual delay and dysmorphic features. FHx of cleft lip/cleft palate as well in relatives who were heterozygous for the reported variant
Sources: Literature
Created: 5 Dec 2023, 10:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2

Publications

Created: 5 Dec 2023, 10:09 a.m.

Panel version: 5.341

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, OMIM:616994
Tags
new-gene-name
Clinvar variants
Variants in C20orf24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: c20orf24 has been classified as Red List (Low Evidence).

3 Jan 2024, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: C20orf24 were changed from ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 to ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, OMIM:616994

3 Jan 2024, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: C20orf24.

5 Dec 2023, Gel status: 0

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

Hannah Knight (NIHR BioResource - University of Cambridge)

gene: C20orf24 was added gene: C20orf24 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: C20orf24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C20orf24 were set to 35614220 Phenotypes for gene: C20orf24 were set to ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2