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| Ectodermal Dysplasia v0.95 | MBTPS1 | Zornitza Stark Marked gene: MBTPS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.95 | MBTPS1 | Zornitza Stark Gene: mbtps1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.95 | MBTPS1 | Zornitza Stark Classified gene: MBTPS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.95 | MBTPS1 | Zornitza Stark Gene: mbtps1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.94 | MBTPS1 |
Zornitza Stark gene: MBTPS1 was added gene: MBTPS1 was added to Ectodermal Dysplasia. Sources: Expert list Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBTPS1 were set to 35362222 Phenotypes for gene: MBTPS1 were set to CAOP syndrome, MIM# 621252 Review for gene: MBTPS1 was set to AMBER Added comment: Two unrelated individuals with compound heterozygous variants in this gene and early-onset lens cataract, generalized non-scarring alopecia, oral mucosal disorder, and severe psoriasiform skin lesions affecting the scalp, facial, inguinal region, buttocks and lower extremities. Some supportive functional data. Sources: Expert list |
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