Hereditary Erythrocytosis
Gene: VHLComment on mode of inheritance: Expert review and OMIM indicate biallelic inheritance.Created: 26 Apr 2017, 1:49 p.m.
Comment on list classification: Expert review and literature search indicate more that 3 unrelated cases linked to phenotype - PMID: 27651169; 27774468; 23859443Created: 26 Apr 2017, 1:45 p.m.
Causal mutations are hypomorphic and inheritance is recessive.Created: 25 Apr 2017, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Gene sourced from The Genetics Home Reference.Created: 14 Mar 2017, 2:20 p.m.
Mode of inheritance
Unknown
Phenotypes for gene: VHL were changed from Familial Erythrocytosis 263400; Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins to Erythrocytosis, familial, 2, OMIM:263400
09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for VHL was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for VHL were set to Familial Erythrocytosis 263400; Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins
Publications for VHL were set to 27651169; 27774468; 23859443;12415268; 16210343; 14726398; 21454469
This gene has been classified as Green List (High Evidence).
VHL was added to Hereditary Erythrocytosispanel. Source: UKGTN
VHL was added to Hereditary Erythrocytosispanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene VHL was set to BIALLELIC, autosomal or pseudoautosomal
VHL was added to Hereditary Erythrocytosispanel. Sources: Other
VHL was created by ellenmcdonagh