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Intellectual disability syndromic and non-syndromic

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)

Lissencephaly-4 is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly'. At least 6 families reported. One family reported with a 'microhydranencephaly' phenotype, but this is unlikely to be a distinct disorder. Mouse model.
Created: 31 Mar 2021, 5:36 a.m. | Last Modified: 31 Mar 2021, 5:36 a.m.
Panel Version: 0.3575

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Lissencephaly 4 (with microcephaly), MIM# 614019
  • MONDO:0013527
  • Microhydranencephaly, MIM# 605013
  • MONDO:0011504
OMIM
609449
Clinvar variants
Variants in NDE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Mar 2021, 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).

31 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDE1 were changed from to Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504

31 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDE1 were set to

31 Mar 2021, 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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDE1 was set to Unknown