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  2. Polydactyly
  3. RAB34
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Polydactyly

Gene: RAB34

Green List (high evidence)
RAB34 (RAB34, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000109113
EnsemblGeneIds (GRCh37): ENSG00000109113
OMIM: 610917, Gene2Phenotype
RAB34 is in 11 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 37619988
- Compound heterozygous variants identified in a fetus with multiple malformations, including a combination of rarely occurring pre- and postaxial polydactyly.
- Rab34-/- mice displayed polydactyly.

PMID: 37384395
- Biallelic variants in RAB34 were identified in 3 unrelated families. All affected individuals presented a novel form of OFDS accompanied by prexial and central polydactyly/bilateral polysyndactyly
Sources: Literature
Created: 16 Feb 2024, 5:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies, (MONDO:0019042), RAB34-related

Publications

Created: 16 Feb 2024, 5:28 a.m.

Panel version: 0.272

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome 20, MIM#620718
OMIM
610917
Clinvar variants
Variants in RAB34
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718

16 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: rab34 has been classified as Green List (High Evidence).

16 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: rab34 has been classified as Green List (High Evidence).

16 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: rab34 has been classified as Red List (Low Evidence).

16 Feb 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: RAB34 was added gene: RAB34 was added to Polydactyly. Sources: Literature Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to 37619988; 37384395 Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related Review for gene: RAB34 was set to GREEN