Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological segmental overgrowth | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | mosaicism |
Green | Neurological segmental overgrowth | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | mosaicism |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | 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 |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | 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 | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological segmental overgrowth | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | 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 | Malformations of cortical development | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | Other | non-coding-known-pathogenic |
Green | Malformations of cortical development | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Other | x-linked-over-dominance |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Malformations of cortical development 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal Xq25 region (includes STAG2) Loss region | 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 | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | somatic, mosaicism |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological segmental overgrowth | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Neurological segmental overgrowth | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Neurological segmental overgrowth | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | mosaicism, somatic |
Green | Holoprosencephaly - NOT chromosomal | 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 | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | somatic, mosaicism |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | 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 | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Holoprosencephaly - NOT chromosomal | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |