19 Sep 2019
Undiagnosed metabolic disorders v1.297
DHODH
Sarah Leigh Added comment: Comment on phenotypes: Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism);Bilateral microtia;Deafness and congenital structural abnormalities;Unexplained skeletal dysplasia
19 Sep 2019
Undiagnosed metabolic disorders v1.297
DHODH
Sarah Leigh Phenotypes for gene: DHODH were changed from Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism); Bilateral microtia; Deafness and congenital structural abnormalities; Unexplained skeletal dysplasia to Miller syndrome 263750
19 Sep 2019
Undiagnosed metabolic disorders v1.296
DHODH
Sarah Leigh Publications for gene: DHODH were set to 27604308
19 Sep 2019
Undiagnosed metabolic disorders v1.295
DHODH
Sarah Leigh Classified gene: DHODH as Green List (high evidence)
19 Sep 2019
Undiagnosed metabolic disorders v1.295
DHODH
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported in 6 families (PMID 19915526), together with a knockout mouse model (PMID 27626380).
19 Sep 2019
Undiagnosed metabolic disorders v1.295
DHODH
Sarah Leigh Gene: dhodh has been classified as Green List (High Evidence).
19 Sep 2019
Undiagnosed metabolic disorders v1.294
DHODH
Sarah Leigh Deleted their comment
19 Sep 2019
Undiagnosed metabolic disorders v1.294
DHODH
Sarah Leigh Deleted their comment
19 Sep 2019
Undiagnosed metabolic disorders v1.294
DHODH
Sarah Leigh Deleted their comment
19 Sep 2019
Undiagnosed metabolic disorders v1.294
DHODH
Sarah Leigh Deleted their comment
19 Sep 2019
Undiagnosed metabolic disorders v1.294
DHODH
Sarah Leigh Deleted their comment
06 Jan 2017
Undiagnosed metabolic disorders
DHODH
Sarah Leigh edited their review of DHODH
06 Jan 2017
Undiagnosed metabolic disorders
DHODH
Sarah Leigh edited their review of DHODH
06 Jan 2017
Undiagnosed metabolic disorders
DHODH
Sarah Leigh edited their review of DHODH
06 Jan 2017
Undiagnosed metabolic disorders
DHODH
Sarah Leigh edited their review of DHODH
06 Jan 2017
Undiagnosed metabolic disorders
DHODH
Sarah Leigh edited their review of DHODH
06 Jan 2017
Undiagnosed metabolic disorders
DHODH
Sarah Leigh reviewed DHODH