Unexplained young onset end-stage renal disease
Gene: COL4A1
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Comment on list classification: Promoted to green due to expert review and internal clinical feedback.Created: 18 Sep 2017, 9:46 a.m.
Comment on list classification: Clinical feedback from Helen Brittain (Genomics England): "Renal cysts are not a universal feature but are seen in a minority. It is possible (although not most likely) that an individual with COL4A1 related disease could be recruited under the renal cyst category and therefore it seems appropriate to include as green. Physicians receiving variants in their patient would have other allied tests, including CK, to help determine clinical relevance."Created: 18 Sep 2017, 9:45 a.m.
Comment on list classification: 3 families reported with HANAC syndrome with renal cysts, however 2 families reported without renal cysts therefore is not a consistent feature. Awaiting clinical review to determine whether this should be green on this panel.Created: 15 Aug 2017, 12:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria
Publications
gene: COL4A1 was added gene: COL4A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to 20818663; 18160688 Phenotypes for gene: COL4A1 were set to raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Exophytic renal cysts; haematuria