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Intellectual disability syndromic and non-syndromic

Gene: NTNG2

Green List (high evidence)

NTNG2 (netrin G2)
EnsemblGeneIds (GRCh38): ENSG00000196358
EnsemblGeneIds (GRCh37): ENSG00000196358
NTNG2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two more families reported, phenotype described as Rett-like. Both families had same homozygous frameshift mutation (chr9:135073515, c.376dupT, p.(Ser126PhefsTer241).
Created: 21 Apr 2020, 11:47 p.m. | Last Modified: 21 Apr 2020, 11:47 p.m.
Panel Version: 0.2585
16 individuals from 7 unrelated families.
Sources: Literature
Created: 21 Jan 2020, 3:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • autism
  • dysmorphic features
  • Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Clinvar variants
Variants in NTNG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NTNG2 were set to 31668703

21 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ntng2 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ntng2 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 1

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 Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTNG2 were set to 31668703 Phenotypes for gene: NTNG2 were set to Intellectual disability; autism; dysmorphic features Review for gene: NTNG2 was set to GREEN