Genomics England
GMS Panels
Panels
Genes and Entities

OFD1

OFD1, centriole and centriolar satellite protein
OMIM: 300170
PanelMode of inheritanceDetails
11 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
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 4.3
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
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
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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)
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.1
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
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.1
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
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 3.7
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
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ciliopathies, Primary ciliary dyskinesia, Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209, MONDO:0010265
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
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
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
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 300804, Simpson-Golabi-Behmel syndrome, type 2 300209 XLR, Orofaciodigital syndrome I 311200 XLD
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Joubert syndrome 10, OMIM:300804, Joubert syndrome 10, MONDO:0010431