Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: NEU1

Green List (high evidence)

NEU1 (neuraminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000204386
EnsemblGeneIds (GRCh37): ENSG00000204386
OMIM: 608272, Gene2Phenotype
NEU1 is in 15 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Established gene-disease association. Type I (cherry red spot-myoclonus syndrome) is milder than type II. DD/ID can be seen in condition.
Created: 3 Oct 2024, 1:34 a.m. | Last Modified: 3 Oct 2024, 1:34 a.m.
Panel Version: 0.6304

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialidosis, type I and type II, MIM# 256550; MONDO:0009738

Publications

History Filter Activity

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: neu1 has been classified as Green List (High Evidence).

3 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NEU1 were changed from to Sialidosis, type I and type II, MIM# 256550; MONDO:0009738

3 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NEU1 were set to

3 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NEU1 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: NEU1 was added gene: NEU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NEU1 was set to Unknown