OFD1

OFD1, centriole and centriolar satellite protein
OMIM: 300170, Gene2Phenotype

29 panels

Panel Reviews Mode of inheritance Details
29 panels
Red OFD1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red OFD1 in Hydrocephalus


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Orofaciodigital syndrome I
Green OFD1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • OROFACIODIGITAL SYNDROME I, OFD1 #311200
Green OFD1 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.22

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome type 1, 311200
No list OFD1 in Limb disorders


Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    • Emory Genetics Laboratory
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Joubert syndrome 10 300804
    • Orofaciodigital syndrome I 311200 XLD
    • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
    • Polydactyly
    Tags
    • curated_removed
    Red OFD1 in Pigmentary skin disorders


    Version 3.11
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • London North GLH
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Terminal osseous dysplasia with pigmentary defects
    No list OFD1 in Ductal plate malformation


    Version 1.29

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Orofaciodigital syndrome I (311200)
    • Joubert syndrome 10 (300804)
    Tags
    • curated_removed
    Red OFD1 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 4.24
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Expert
    Red OFD1 in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green OFD1 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.118

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • UKGTN
    • Expert list
    • Expert Review
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 10 300804
    • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
    Red OFD1 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.47

    review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review
    Phenotypes
    • X-linked Joubert syndrome
    • Oral-facial-digital syndrome I
    Red OFD1 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.42

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Green OFD1 in Respiratory ciliopathies including non-CF bronchiectasis


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Ciliopathies
    • Primary ciliary dyskinesia
    • Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209, MONDO:0010265
    Green OFD1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Joubert syndrome 10 300804
    • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
    • Orofaciodigital syndrome I 311200 XLD
    Green OFD1 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

    Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
    Level 2: Growth disorders
    Version 1.120

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Oral-facial-digital syndrome 1, 311200
    • Simpson-Golabi-Behmel syndrome, type 2, 300209
    • Joubert syndrome 10, 300804
    Green OFD1 in Unexplained young onset end-stage renal disease


    Version 3.40
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 10 300804
    • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
    Green OFD1 in Fetal anomalies


    Version 3.154
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME TYPE 10
    • SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2
    • ORAL-FACIAL-DIGITAL SYNDROME TYPE 1
    Red OFD1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Oral-Facial-Digital Syndrome
    Green OFD1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 300209
    • ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 311200
    • JOUBERT SYNDROME TYPE 10 300804
    Green OFD1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • OROFACIODIGITAL SYNDROME I
    • OFD1
    Green OFD1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.524
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Oral-facial-digital syndrome 1, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209Joubert syndrome 10, 300804
    • ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 (OFD1)
    Green OFD1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.83
    Latest signed off version: v4.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 10
    • Eye Disorders
    • ?Retinitis pigmentosa 23, 300424Joubert syndrome 10, 300804Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
    • Retinitis pigmentosa
    Amber OFD1 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Joubert syndrome 10, OMIM:300804
    • Joubert syndrome 10, MONDO:0010431
    Tags
    • Q3_23_promote_green
    • Q3_23_NHS_review
    Green OFD1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.170

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    • Other
    • Eligibility statement prior genetic testing
    Phenotypes
    • Joubert syndrome 10
    • X-linked Joubert syndrome
    • Orofaciodigital syndrome I
    Green OFD1 in Ophthalmological ciliopathies


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • Joubert syndrome 10
    • X-linked Joubert syndrome
    • Orofaciodigital syndrome I
    Green OFD1 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.18
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 10
    • X-linked Joubert syndrome
    • Orofaciodigital syndrome I
    Green OFD1 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • Joubert syndrome 10
    • X-linked Joubert syndrome
    • Orofaciodigital syndrome I
    Red OFD1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome 10
    • X-linked Joubert syndrome
    • Orofaciodigital syndrome I
    Green OFD1 in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 10, 300804
    • ?Retinitis pigmentosa 23, 300424
    • Simpson-Golabi-Behmel syndrome, type 2, 300209
    • Orofaciodigital syndrome I, 311200