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| Ectodermal Dysplasia v0.112 | KREMEN1 |
Zornitza Stark changed review comment from: Two additional unrelated families with suspected tooth agenesis reported in PMID 28813618. Probands presented with mild clinical features of ectodermal dysplasia (parse hair, dry skin, sparse eyebrows and eyelashes, protruded lips, and heat intolerance) Homozygous variants were identified in each proband (c.146C>G, p.T49R and c.773_778del - both rare in gnomAD v4.1 for AR gene); to: Two additional unrelated families with suspected tooth agenesis reported in PMID 28813618. Probands presented with mild clinical features of ectodermal dysplasia (sparse hair, dry skin, sparse eyebrows and eyelashes, protruded lips, and heat intolerance) Homozygous variants were identified in each proband (c.146C>G, p.T49R and c.773_778del - both rare in gnomAD v4.1 for AR gene) |
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| Ectodermal Dysplasia v0.112 | KREMEN1 | Zornitza Stark Publications for gene: KREMEN1 were set to 29526031; 29526031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.111 | KREMEN1 | Zornitza Stark Classified gene: KREMEN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.111 | KREMEN1 | Zornitza Stark Gene: kremen1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.110 | KREMEN1 | Zornitza Stark edited their review of gene: KREMEN1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.110 | KREMEN1 |
Zornitza Stark edited their review of gene: KREMEN1: Added comment: Two additional unrelated families with suspected tooth agenesis reported in PMID 28813618. Probands presented with mild clinical features of ectodermal dysplasia (parse hair, dry skin, sparse eyebrows and eyelashes, protruded lips, and heat intolerance) Homozygous variants were identified in each proband (c.146C>G, p.T49R and c.773_778del - both rare in gnomAD v4.1 for AR gene); Changed publications: 29526031, 29526031, 28813618 |
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| Ectodermal Dysplasia v0.21 | KREMEN1 | Zornitza Stark Marked gene: KREMEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.21 | KREMEN1 | Zornitza Stark Gene: kremen1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.21 | KREMEN1 | Zornitza Stark Publications for gene: KREMEN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.20 | KREMEN1 | Zornitza Stark Classified gene: KREMEN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.20 | KREMEN1 | Zornitza Stark Gene: kremen1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.19 | KREMEN1 | Zornitza Stark reviewed gene: KREMEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29526031, 29526031; Phenotypes: Ectodermal dysplasia 13, hair/tooth type, 617392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.0 | KREMEN1 |
Bryony Thompson gene: KREMEN1 was added gene: KREMEN1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392 |
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