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Mendeliome

Gene: RCBTB1

Green List (high evidence)

RCBTB1 (RCC1 and BTB domain containing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000136144
EnsemblGeneIds (GRCh37): ENSG00000136144
OMIM: 607867, Gene2Phenotype
RCBTB1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families with bi-allelic variants and retinal dystrophy.

The link between mono-allelic variants and FEVR is disputed.
Created: 12 May 2022, 7:47 a.m. | Last Modified: 12 May 2022, 7:47 a.m.
Panel Version: 0.14168

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy with or without extraocular anomalies, MIM# 617175

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies, MIM# 617175
OMIM
607867
Clinvar variants
Variants in RCBTB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rcbtb1 has been classified as Green List (High Evidence).

12 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RCBTB1 were changed from to Retinal dystrophy with or without extraocular anomalies, MIM# 617175

12 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RCBTB1 were set to

12 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RCBTB1 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: RCBTB1 was added gene: RCBTB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RCBTB1 was set to Unknown