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Prepair 1000+

Gene: NTNG2

Amber List (moderate evidence)
NTNG2 (netrin G2)
EnsemblGeneIds (GRCh38): ENSG00000196358
EnsemblGeneIds (GRCh37): ENSG00000196358
NTNG2 is in 5 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: To be upgraded to green
Created: 14 Aug 2024, 11:08 a.m. | Last Modified: 14 Aug 2024, 11:08 a.m.
Panel Version: 1.160
Created: 14 Aug 2024, 11:08 a.m.
Last Modified: 14 Aug 2024, 11:08 a.m.
Panel version: 1.160

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome, such as poor communication, stereotypic or repetitive behaviours, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.

More than 8 families reported.
Created: 30 Jul 2024, 6:22 a.m. | Last Modified: 30 Jul 2024, 6:22 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718

Publications

Created: 30 Jul 2024, 6:22 a.m.
Last Modified: 30 Jul 2024, 6:22 a.m.
Panel version: 1.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Tags
for review
Clinvar variants
Variants in NTNG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: ntng2 has been classified as Amber List (Moderate Evidence).

14 Aug 2024, Gel status: 2

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: NTNG2.

1 Jun 2022, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NTNG2 was added gene: NTNG2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Expert Review Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTNG2 were set to 31692205; 31668703 Phenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718