Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
KBG Syndrome; KBGS 148050
ankyrin repeat domain 11; ANKRD11 611192
  • Clinical Genetics
  • Prescribed Specialised Services
Kearns-Sayre Syndrome; KSS 530000
mitochondrial genome 0
  • Clinical Genetics
  • Histopathology
  • Neurology, Adult
  • Neurology, Paediatric
Kniest Dysplasia 156550
collagen, type II, alpha 1 chain; COL2A1 120140
  • Clinical Genetics
  • Fetal Medicine
  • Histopathology
Krabbe Disease 245200
galactosylceramidase; GALC 606890
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
  • Neurology, Paediatric
Krabbe Disease, Atypical, Due To Saposin A Deficiency 611722
prosaposin; PSAP 176801
  • Clinical Genetics
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric

Section 2A

Disorders MIM Genes MIM Specialties Commissioning
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia; HH1 308700
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia; HH2 147950
anosmin 1; ANOS1 300836
fibroblast growth factor receptor 1; FGFR1 136350
  • Clinical Genetics
  • Endocrinology, Adult
  • Endocrinology, Paediatric
  • Prescribed Specialised Services

Section 2B

Disorders MIM Genes MIM Specialties Commissioning
Kidney Disease, Tubulo Interstitial, 2 Gene Panel 0
...see test listing on database for full details 0
  • Clinical Genetics
  • Nephrology, Adult
  • Nephrology, Paediatric
  • Clinical Commissioning Group
  • Prescribed Specialised Services

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