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  2. Lissencephaly and Band Heterotopia
  3. NDE1
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Lissencephaly and Band Heterotopia

Gene: NDE1

Green List (high evidence)
NDE1 (nudE neurodevelopment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000072864
EnsemblGeneIds (GRCh37): ENSG00000072864
OMIM: 609449, Gene2Phenotype
NDE1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two reports for microhydranencephaly (PMID: 30637988) Multiple reports of biallelic patients with NMD pred variants and lissencecphaly, pathogenic missense are yet to be reported.
Created: 21 Apr 2020, 1:13 a.m. | Last Modified: 21 Apr 2020, 1:13 a.m.
Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019

Publications

Created: 21 Apr 2020, 1:13 a.m.
Last Modified: 21 Apr 2020, 1:13 a.m.
Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Microhydranencephaly 605013
  • Lissencephaly 4 (with microcephaly) 614019
OMIM
609449
Clinvar variants
Variants in NDE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nde1 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019

21 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDE1 were set to

21 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDE1 was added gene: NDE1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: NDE1 was set to Unknown