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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.25 | PTHLH | Zornitza Stark Marked gene: PTHLH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.25 | PTHLH | Zornitza Stark Gene: pthlh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.25 | PTHLH | Zornitza Stark Phenotypes for gene: PTHLH were changed from to Brachydactyly, type E2, MIM# 613382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.24 | PTHLH | Zornitza Stark Publications for gene: PTHLH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.14 | PTHLH |
Chirag Patel changed review comment from: Type E brachydactyly with shortening mainly of the metacarpals and metatarsals, but in some cases the phalanges as well. Some individuals have moderate short stature and round facies but do not have ectopic ossification or intellectual disability. Phenotype similar to Albright Hereditary Osteodystrophy but no hormone resistance.; to: Established gene-disease association, multiple families reported. Type E brachydactyly with shortening mainly of the metacarpals and metatarsals, but in some cases the phalanges as well. Some individuals have moderate short stature and round facies but do not have ectopic ossification or intellectual disability. Phenotype similar to Albright Hereditary Osteodystrophy but no hormone resistance. |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.14 | PTHLH | Chirag Patel reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20015959, 34897794, 29947179, 28211986; Phenotypes: Brachydactyly, type E2, MIM# 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | PTHLH |
Zornitza Stark gene: PTHLH was added gene: PTHLH was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTHLH was set to Unknown |
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