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Hereditary Neuropathy - complex v1.37 DGUOK Chirag Patel Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Publications for gene DGUOK were changed from 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938 to 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938
Hereditary Neuropathy - complex v0.31 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Hereditary Neuropathy - complex v0.31 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.31 DGUOK Zornitza Stark Classified gene: DGUOK as Green List (high evidence)
Hereditary Neuropathy - complex v0.31 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.30 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Review for gene: DGUOK was set to GREEN
Added comment: Sources: NHS GMS