Cystic kidney disease

Gene: COL4A1

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.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria

Publications

• 18160688