Cerebral malformations (Version: )

Relevant disorders: Cerebral malformation, R87
This panel contains these 3 panels:
  • Malformations of cortical development
  • Neurological segmental overgrowth
  • Holoprosencephaly
Signed off date: 4 Mar 2020
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
79 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological segmental overgrowth
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Neurological segmental overgrowth
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/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/Anucleotide-repeat-expansion
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological segmental overgrowth
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Holoprosencephaly
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalOthernon-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)Otherx-linked-over-dominance
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthersomatic, mosaicism
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological segmental overgrowth
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Neurological segmental overgrowth
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Neurological segmental overgrowth
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Asomatic, mosaicism
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A