Macular Dystrophy/Stargardt Disease
Gene: PRDM13EnsemblGeneIds (GRCh38): ENSG00000112238
EnsemblGeneIds (GRCh37): ENSG00000112238
OMIM: 616741, Gene2Phenotype
PRDM13 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
8 individuals from three families reported with UPSTREAM NON-CODING variants in this gene and retinal dystrophy.Created: 13 Oct 2020, 7:51 a.m. | Last Modified: 13 Oct 2020, 7:51 a.m.
Panel Version: 0.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790
Publications
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Cause of condition cannot be detected by WESCreated: 29 Apr 2020, 6:43 a.m. | Last Modified: 29 Apr 2020, 6:43 a.m.
Panel Version: 0.10
Variants in a DNase hypersensitivity region upstream of PRDM13 and duplications of the gene cause the condition. Both these alterations are not detectable using whole exome sequencing. The mechanism of disease is reported to be gain-of-function.Created: 5 Feb 2020, 4:09 a.m. | Last Modified: 5 Feb 2020, 4:09 a.m.
Panel Version: 0.1
Phenotypes
Macular dystrophy, North Carolina type MIM#136550
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Macular dystrophy, North Carolina type, MIM#136550
- Retinal dystrophy
- Chorioretinal atrophy, progressive bifocal, MIM# 600790
- Tags
- OMIM
- 616741
- Clinvar variants
- Variants in PRDM13
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PRDM13 were changed from Macular dystrophy, North Carolina type, MIM#136550 to Macular dystrophy, North Carolina type, MIM#136550; Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PRDM13 were set to 29258872; 28973654; 26507665
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prdm13 has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag 5'UTR tag was added to gene: PRDM13.
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: PRDM13 was changed from to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PRDM13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prdm13 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prdm13 has been classified as Red List (Low Evidence).
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag SV/CNV tag was added to gene: PRDM13.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PRDM13 was added gene: PRDM13 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRDM13 were set to 29258872; 28973654; 26507665 Phenotypes for gene: PRDM13 were set to Macular dystrophy, North Carolina type, MIM#136550