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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. MERTK
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: MERTK

Green List (high evidence)
MERTK (MER proto-oncogene, tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000153208
EnsemblGeneIds (GRCh37): ENSG00000153208
OMIM: 604705, Gene2Phenotype
MERTK is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 18 May 2022, 6:56 a.m. | Last Modified: 18 May 2022, 6:56 a.m.
Panel Version: 0.125

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 38, MIM# 613862

Publications

Created: 18 May 2022, 6:56 a.m.
Last Modified: 18 May 2022, 6:56 a.m.
Panel version: 0.125

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 38, MIM# 613862
OMIM
604705
Clinvar variants
Variants in MERTK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MERTK were changed from childhood onset rod-cone dystrophy with early macular atrophy; Leber congenital amaurosisRetinitis pigmentosa 38, 613862 to Retinitis pigmentosa 38, MIM# 613862

18 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MERTK were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MERTK was added gene: MERTK was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MERTK were set to childhood onset rod-cone dystrophy with early macular atrophy; Leber congenital amaurosisRetinitis pigmentosa 38, 613862