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  3. NECTIN1
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Clefting disorders

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

at least 4 families with PTCs and cleft lip/palate
Created: 24 Jan 2022, 2:10 a.m. | Last Modified: 24 Jan 2022, 2:10 a.m.
Panel Version: 0.168

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Jan 2022, 2:10 a.m.
Last Modified: 24 Jan 2022, 2:10 a.m.
Panel version: 0.168

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060
  • Zlotogora-Ogur syndrome
OMIM
600644
Clinvar variants
Variants in NECTIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NECTIN1 were changed from Cleft Lip with or without Cleft Palate; CLP, partial syndactyly of digits, intellectual disability, dysmorphism; Orofacial cleft 7, 225060; Cleft lip/Palate ectodermal dysplasia syndrome, 225060; Ectodermal dysplasia, Margarita Island type; Cleft lip; Zlotogora-Ogur syndrome to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Zlotogora-Ogur syndrome

24 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NECTIN1 were set to 10932188; 26953873; 11559849

16 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NECTIN1 was added gene: NECTIN1 was added to Clefting_GEL. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NECTIN1 were set to 10932188; 26953873; 11559849 Phenotypes for gene: NECTIN1 were set to Cleft Lip with or without Cleft Palate; CLP, partial syndactyly of digits, intellectual disability, dysmorphism; Orofacial cleft 7, 225060; Cleft lip/Palate ectodermal dysplasia syndrome, 225060; Ectodermal dysplasia, Margarita Island type; Cleft lip; Zlotogora-Ogur syndrome