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| Prepair 1000+ v1.1268 | EDAR | Clare Hunt edited their review of gene: EDAR: Changed phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1068 | EDAR | Zornitza Stark Marked gene: EDAR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1068 | EDAR | Zornitza Stark Gene: edar has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1068 | EDAR | Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) to autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1067 | EDAR | Zornitza Stark Publications for gene: EDAR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.992 | EDAR | Clare Hunt changed review comment from: Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED.; to: Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.992 | EDAR | Clare Hunt reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431241, 16435307, 20979233, 23401279; Phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619, autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | EDAR |
Zornitza Stark gene: EDAR was added gene: EDAR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) |
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