Hereditary ataxia and cerebellar anomalies - childhood onset (Version: )

Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84
This panel contains these 3 panels:
  • Ataxia and cerebellar anomalies - narrow panel
  • Neurological ciliopathies
  • Congenital disorders of glycosylation
Signed off date: 9 Oct 2020
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
253 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/Apathogenic-synonymous
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital disorders of glycosylation
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Ataxia and cerebellar anomalies - narrow panel
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
STR
BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
STR
BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Ataxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MITOCHONDRIALN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
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
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Ataxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A