KANK1

KN motif and ankyrin repeat domains 1
OMIM: 607704, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red KANK1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 2, MIM#612900

Red KANK1 in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome
  • Cerebral palsy, spastic quadriplegic, 2, MIM#612900

Red KANK1 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Nephrotic syndrome

Red KANK1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 2, MIM#612900