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Regression

Gene: NAE1

Green List (high evidence)
NAE1 (NEDD8 activating enzyme E1 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000159593
EnsemblGeneIds (GRCh37): ENSG00000159593
OMIM: 603385, Gene2Phenotype
NAE1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four individuals reported with bi-allelic variants and intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Sources: Literature
Created: 9 Jan 2023, 6:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210

Publications

Created: 9 Jan 2023, 6:20 a.m.

Panel version: 0.519

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210
OMIM
603385
Clinvar variants
Variants in NAE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAE1 were changed from Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210 to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210

2 Feb 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAE1 were changed from Neurodevelopmental disorder, MONDO:0700092, NAE1-related to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210

9 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nae1 has been classified as Green List (High Evidence).

9 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nae1 has been classified as Green List (High Evidence).

9 Jan 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAE1 was added gene: NAE1 was added to Regression. Sources: Literature Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAE1 were set to 36608681 Phenotypes for gene: NAE1 were set to Neurodevelopmental disorder, MONDO:0700092, NAE1-related Review for gene: NAE1 was set to GREEN