Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | Skewed X-inactivation | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | 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 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | gene-checked | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | Q2_24_demote_red, Q2_24_expert_review, Q2_24_NHS_review | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q4_23_MOI | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |