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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. FAM161A
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: FAM161A

Green List (high evidence)
FAM161A (family with sequence similarity 161 member A)
EnsemblGeneIds (GRCh38): ENSG00000170264
EnsemblGeneIds (GRCh37): ENSG00000170264
OMIM: 613596, Gene2Phenotype
FAM161A is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>10 families/cases reported with non-syndromic RP. A mouse model recapitulates the human phenotype.
Created: 24 Apr 2022, 1:39 a.m. | Last Modified: 24 Apr 2022, 1:39 a.m.
Panel Version: 0.112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 28 MONDO:0011630

Publications

Created: 24 Apr 2022, 1:39 a.m.
Last Modified: 24 Apr 2022, 1:39 a.m.
Panel version: 0.112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 28, 606068
  • Retinitis pigmentosa 28 MONDO:0011630
OMIM
613596
Clinvar variants
Variants in FAM161A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam161a has been classified as Green List (High Evidence).

24 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAM161A were changed from Retinitis pigmentosa 28, 606068 to Retinitis pigmentosa 28, 606068; Retinitis pigmentosa 28 MONDO:0011630

24 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FAM161A 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: FAM161A was added gene: FAM161A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, 606068