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Monogenic diabetes v2.29 | PCBD1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) |
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Monogenic diabetes v2.29 | PCBD1 | Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v2.28 | PCBD1 | Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v1.29 | PCBD1 | Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D to Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v1.1 | PCBD1 | Jayne Houghton reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24848070, 24204001; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.23 | PCBD1 | Ivone Leong Classified gene: PCBD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.23 | PCBD1 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as advised via email communication with Jane Houghton (South West GLH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.23 | PCBD1 | Ivone Leong Gene: pcbd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.8 | PCBD1 | Ivone Leong reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.7 | PCBD1 | Ivone Leong Source NHS GMS was added to PCBD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic diabetes v0.2 | PCBD1 |
Ellen McDonagh gene: PCBD1 was added gene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Amber Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 24204001; 24848070 Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D |