Genomics England

OFD1

OFD1, centriole and centriolar satellite protein

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	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 4.15	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 4.195	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 7.51	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 4.10	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 4.5	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
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 3.13	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 6.16	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 6.16	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 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Joubert syndrome 10, OMIM:300804, Joubert syndrome 10, MONDO:0010431