Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | Q3_21_MOI |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | pathogenic-synonymous |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital disorders of glycosylation | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Ataxia and cerebellar anomalies - narrow panel STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | Q3_22_MOI, Q3_22_NHS_review |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/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/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q4_21_MOI |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | non-coding-known-pathogenic |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_22_rating, Q3_22_expert_review |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital disorders of glycosylation | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | nucleotide-repeat-expansion, Q4_22_demote_red |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion |
Green | Ataxia and cerebellar anomalies - narrow panel STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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 unknown | N/A | N/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 unknown | N/A | N/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 unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ataxia and cerebellar anomalies - narrow panel | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Other | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MITOCHONDRIAL | N/A | gene-checked |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Skewed X-inactivation |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | Q2_21_rating |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Congenital disorders of glycosylation | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | Q3_21_MOI |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_22_rating, Q3_22_expert_review |
Green | Ataxia and cerebellar anomalies - narrow panel | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_22_MOI |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_22_MOI |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | Q2_21_rating, Q2_21_expert_review |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital disorders of glycosylation | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |