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  3. NECTIN1
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Ectodermal Dysplasia

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

at least 4 families with PTCs and cleft lip/palate
Created: 24 Jan 2022, 2:09 a.m. | Last Modified: 24 Jan 2022, 2:09 a.m.
Panel Version: 0.10749

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, 2:09 a.m.
Last Modified: 24 Jan 2022, 2:09 a.m.
Panel version: Imported from Mendeliome panel version 0.10749

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ectodermal dysplasia is a feature of the condition. >3 cases reported
Sources: Expert list
Created: 11 Mar 2020, 9:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 Mar 2020, 9:09 a.m.

Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060
OMIM
600644
Clinvar variants
Variants in NECTIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NECTIN1 was added gene: NECTIN1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NECTIN1 were set to 25913853 Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060 Review for gene: NECTIN1 was set to GREEN