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Prepair 1000+

Gene: NECTIN1

Green List (high evidence)

NECTIN1 (nectin cell adhesion molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000110400
EnsemblGeneIds (GRCh37): ENSG00000110400
OMIM: 600644, Gene2Phenotype
NECTIN1 is in 9 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

At least 4 families reported.

Characterised by a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, intellectual disability
Created: 3 Oct 2024, 6:03 a.m. | Last Modified: 3 Oct 2024, 6:03 a.m.
Panel Version: 1.359

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
OMIM
600644
Clinvar variants
Variants in NECTIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: nectin1 has been classified as Green List (High Evidence).

5 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: NECTIN1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NECTIN1 was added gene: NECTIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)