OFD1

OFD1, centriole and centriolar satellite protein
OMIM: 300170
PanelMode of inheritanceDetails
10 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
OROFACIODIGITAL SYNDROME I, OFD1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 300209, ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 311200, JOUBERT SYNDROME TYPE 10 300804
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
JOUBERT SYNDROME TYPE 10, SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2, ORAL-FACIAL-DIGITAL SYNDROME TYPE 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Oral-facial-digital syndrome 1, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209Joubert syndrome 10, 300804, ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 (OFD1)
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Joubert syndrome 10, X-linked Joubert syndrome, Orofaciodigital syndrome I
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Joubert syndrome 10, X-linked Joubert syndrome, Orofaciodigital syndrome I
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Joubert syndrome 10, X-linked Joubert syndrome, Orofaciodigital syndrome I
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Joubert syndrome 10, Eye Disorders, ?Retinitis pigmentosa 23, 300424Joubert syndrome 10, 300804Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209, Retinitis pigmentosa
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Joubert syndrome 10 300804, Simpson-Golabi-Behmel syndrome, type 2 300209 XLR, Orofaciodigital syndrome I 311200 XLD
R-numbers: R257
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Joubert syndrome 10 300804, Simpson-Golabi-Behmel syndrome, type 2 300209 XLR