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Mendeliome

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>10 families/cases reported with non-syndromic RP. A mouse model recapitulates the human phenotype.
Created: 20 Apr 2022, 3:24 a.m. | Last Modified: 20 Apr 2022, 3:24 a.m.
Panel Version: 0.13097

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa 28 MONDO:0011630

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • retinitis pigmentosa 28 MONDO:0011630
OMIM
613596
Clinvar variants
Variants in FAM161A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FAM161A were changed from to retinitis pigmentosa 28 MONDO:0011630

20 Apr 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FAM161A were set to

20 Apr 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FAM161A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM161A was added gene: FAM161A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM161A was set to Unknown