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Cone-rod Dystrophy
Gene: UNC119

UNC119 (unc-119 lipid binding chaperone)
EnsemblGeneIds (GRCh38): ENSG00000109103
EnsemblGeneIds (GRCh37): ENSG00000109103
OMIM: 604011, Gene2Phenotype
UNC119 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One of the variants reported is missense with no other supporting information.
Created: 23 Nov 2023, 5:22 a.m. | Last Modified: 23 Nov 2023, 5:22 a.m.

Panel Version: 0.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cone-rod dystrophy 24, MIM# 620342

Created: 23 Apr 2023, 9:29 a.m.
Last Modified: 23 Apr 2023, 9:29 a.m.
Panel version: 0.51

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

One family and one case reported with cone-rod dystrophy, and a supporting mouse and zebrafish model with retinal degeneration.
Created: 19 May 2020, 2:10 a.m. | Last Modified: 19 May 2020, 2:10 a.m.

Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cone-rod dystrophy

Publications

Created: 19 May 2020, 2:10 a.m.
Last Modified: 19 May 2020, 2:10 a.m.
Panel version: 0.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

Cone-rod dystrophy 24, MIM# 620342

OMIM

Clinvar variants

Variants in UNC119

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Nov 2023, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UNC119 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

23 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc119 has been classified as Amber List (Moderate Evidence).

23 Apr 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC119 were changed from Cone-rod dystrophy, MONDO:0015993 to Cone-rod dystrophy 24, MIM# 620342

21 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc119 has been classified as Green List (High Evidence).

21 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UNC119 were set to 30679166

21 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC119 were changed from ?Cone-rod dystrophy to Cone-rod dystrophy, MONDO:0015993

19 May 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: UNC119 was added gene: UNC119 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UNC119 were set to 30679166 Phenotypes for gene: UNC119 were set to ?Cone-rod dystrophy