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Intellectual disability syndromic and non-syndromic

Gene: SNX27

Green List (high evidence)

SNX27 (sorting nexin family member 27)
EnsemblGeneIds (GRCh38): ENSG00000143376
EnsemblGeneIds (GRCh37): ENSG00000143376
OMIM: 611541, Gene2Phenotype
SNX27 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families and animal model.
Sources: Expert Review
Created: 5 Feb 2020, 5:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability; seizures

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • intellectual disability
  • seizures
OMIM
611541
Clinvar variants
Variants in SNX27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snx27 has been classified as Green List (High Evidence).

5 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snx27 has been classified as Green List (High Evidence).

5 Feb 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: SNX27 was added gene: SNX27 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Mode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343 Phenotypes for gene: SNX27 were set to intellectual disability; seizures Review for gene: SNX27 was set to GREEN