Rare multisystem ciliopathy Super panel (Version: )

This panel contains these 4 panels:
  • Renal ciliopathies
  • Neurological ciliopathies
  • Ophthalmological ciliopathies
  • Skeletal ciliopathies
Signed off date: 4 Mar 2020
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
94 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Neurological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ophthalmological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Neurological ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Renal ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Neurological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A