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  3. ENAM
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Ectodermal Dysplasia

Gene: ENAM

Red List (low evidence)
ENAM (enamelin)
EnsemblGeneIds (GRCh38): ENSG00000132464
EnsemblGeneIds (GRCh37): ENSG00000132464
OMIM: 606585, Gene2Phenotype
ENAM is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Affects teeth only.
Sources: Expert list
Created: 12 Mar 2020, 1:29 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IB, MIM# 104500; Amelogenesis imperfecta, type IC, MIM# 204650

Created: 12 Mar 2020, 1:29 a.m.

Panel version: 0.18

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Amelogenesis imperfecta, type IB, MIM# 104500
  • Amelogenesis imperfecta, type IC, MIM# 204650
OMIM
606585
Clinvar variants
Variants in ENAM
Penetrance
None
Panels with this gene

History Filter Activity

12 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: enam has been classified as Red List (Low Evidence).

12 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ENAM was added gene: ENAM was added to Ectodermal Dysplasia_RMH. Sources: Expert list Mode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, MIM# 104500; Amelogenesis imperfecta, type IC, MIM# 204650 Review for gene: ENAM was set to RED