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Retinal disorders

Gene: C19orf44

Amber List (moderate evidence)
C19orf44 (chromosome 19 open reading frame 44)
EnsemblGeneIds (GRCh38): ENSG00000105072
EnsemblGeneIds (GRCh37): ENSG00000105072
C19orf44 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

PMID: 40079362 reports four biallelic terminating C19orf44 variants in cases with late onset retinal dystrophy. The cases were from eleven families, nine of which were homozygous for NM_032207.4: c.549_550del (NP_115583.1: p.(Ser185ProfsTer2)).
Haplotype analysis revealed that there were four different haplotypes amongst the families carrying c.549_550del.
Created: 31 Mar 2025, 12:11 p.m. | Last Modified: 31 Mar 2025, 12:11 p.m.
Panel Version: 7.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 31 Mar 2025, 12:11 p.m.
Last Modified: 31 Mar 2025, 12:11 p.m.
Panel version: 7.25

Andrew Webster (Moorfields Eye Hospital)

Green List (high evidence)

Publication accepted by Genetics In Medicine, involving four LOF alleles in 15 affected individuals from 11 families, with four centres contributing (Israel, Boston, Basel, London (UCL/MEH)).

GENETMED-D-24-00741R2
Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy
phenotype characterized by patchy perifoveal chorioretinal atrophy
Sources: Research
Created: 13 Jan 2025, 11:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinal dystrophy; macular dystrophy; cone-rod dystrophy; rod-cone dystrophy

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 13 Jan 2025, 11:08 a.m.

Panel version: 7.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • late onset retinal dystrophy
Tags
Q1_25_ NHS_review Q1_25_ promote_green
Clinvar variants
Variants in C19orf44
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

31 Mar 2025, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: C19orf44 were changed from retinal dystrophy; macular dystrophy; cone-rod dystrophy; rod-cone dystrophy to late onset retinal dystrophy

31 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: C19orf44 were set to

31 Mar 2025, Gel status: 2

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: C19orf44 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

31 Mar 2025, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: C19orf44. Tag Q1_25_ promote_green tag was added to gene: C19orf44.

31 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: c19orf44 has been classified as Amber List (Moderate Evidence).

13 Jan 2025, Gel status: 0

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

Andrew Webster (Moorfields Eye Hospital)

gene: C19orf44 was added gene: C19orf44 was added to Retinal disorders. Sources: Research Mode of inheritance for gene: C19orf44 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C19orf44 were set to retinal dystrophy; macular dystrophy; cone-rod dystrophy; rod-cone dystrophy Penetrance for gene: C19orf44 were set to unknown Mode of pathogenicity for gene: C19orf44 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: C19orf44 was set to GREEN