White matter disorders and cerebral calcification - narrow panel
Gene: NDE1
NDE1 (nudE neurodevelopment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000072864
EnsemblGeneIds (GRCh37): ENSG00000072864
OMIM: 609449, Gene2Phenotype
NDE1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000072864
EnsemblGeneIds (GRCh37): ENSG00000072864
OMIM: 609449, Gene2Phenotype
NDE1 is in 9 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Lissencephaly 4 (with microcephaly), 614019
- Lissencephaly, Recessive
- Cerebral Malformation Disorders
- OMIM
- 609449
- Clinvar variants
- Variants in NDE1
- Penetrance
- None
- Panels with this gene
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NDE1 was added gene: NDE1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019; Lissencephaly, Recessive; Cerebral Malformation Disorders