Polydactyly
Gene: RAB34
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: LiteratureCreated: 16 Feb 2024, 5:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Publications
Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718
Gene: rab34 has been classified as Green List (High Evidence).
Gene: rab34 has been classified as Green List (High Evidence).
Gene: rab34 has been classified as Red List (Low Evidence).
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