OFD1

Panel	Reviews	Mode of inheritance	Details
Filter panels 27 panels
Green OFD1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Red OFD1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	1 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 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10, MIM# 300804 Orofaciodigital syndrome I, MIM# 311200 Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Amber OFD1 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Green OFD1 in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.63	2 reviews	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 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10, MIM 300804 Orofaciodigital syndrome I, MIM 311200 Simpson-Golabi-Behmel syndrome, type 2, MIM 300209 Primary ciliary dyskinesia
Green OFD1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.94	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 23, MIM# 300424 Joubert syndrome 10, MIM# 300804 Orofaciodigital syndrome I, MIM# 311200
Green OFD1 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.31	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10, MIM# 300804
Green OFD1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.151	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green OFD1 in Mendeliome Version 1.3512	2 reviews	Other	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10, 300804 Simpson-Golabi-Behmel syndrome, type 2, 300209 Orofaciodigital syndrome I, 311200 Retinitis pigmentosa 23, 300424
Amber OFD1 in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Green OFD1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.296 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 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
Amber OFD1 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 1.18	1 review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome I, MIM# 311200
Green OFD1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.45 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome I, MIM# 311200 Joubert syndrome 10, MIM# 300804
Amber OFD1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 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 Amber Literature Phenotypes Orofaciodigital syndrome I (MIM#311200)
Green OFD1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green OFD1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green OFD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes ciliopathy MONDO:0005308
Green OFD1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	2 reviews	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 Review Green UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome I 311200 XLD Simpson-Golabi-Behmel syndrome, type 2 300209 XLR Joubert syndrome 10 300804
Green OFD1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10
Green OFD1 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.182 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 23, 300424 Joubert syndrome 10, 300804 Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
Green OFD1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 23, 300424 Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 Joubert syndrome 10, 300804
Green OFD1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 10, 300804 (3)
Green OFD1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Oral-facial-digital syndrome
Green OFD1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	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 Fetal anomalies Version 1.465	1 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 Genomics England PanelApp Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Orofaciodigital syndrome I, MIM# 311200 Joubert syndrome 10, MIM# 300804
Green OFD1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 10 MIM#300804 Simpson-Golabi-Behmel syndrome, type 2 MIM#300209
Red OFD1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Retinitis pigmentosa 23, MIM# 300424 Joubert syndrome 10, MIM# 300804 Orofaciodigital syndrome I, MIM# 311200
Green OFD1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 10 MIM#300804 Simpson-Golabi-Behmel syndrome, type 2 MIM#300209 Retinitis pigmentosa 23 MIM#300424

OFD1

27 panels

Green OFD1 in Skeletal Dysplasia_Fetal

Sources

Red OFD1 in Arthrogryposis

Sources

Phenotypes

Amber OFD1 in Congenital diaphragmatic hernia

Sources

Phenotypes

Green OFD1 in Ciliary Dyskinesia

Sources

Phenotypes

Green OFD1 in Ciliopathies

Sources

Phenotypes

Green OFD1 in Joubert syndrome and other neurological ciliopathies

Sources

Phenotypes

Green OFD1 in Macrocephaly_Megalencephaly

Sources

Green OFD1 in Mendeliome

Sources

Phenotypes

Amber OFD1 in Overgrowth

Sources

Phenotypes

Green OFD1 in Polydactyly

Sources

Amber OFD1 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy

Sources

Phenotypes

Green OFD1 in Renal Ciliopathies and Nephronophthisis

Sources

Phenotypes

Amber OFD1 in Genetic Epilepsy

Sources

Phenotypes

Green OFD1 in Callosome

Sources

Green OFD1 in Regression

Sources

Green OFD1 in Intellectual disability syndromic and non-syndromic

Sources

Phenotypes

Green OFD1 in Skeletal dysplasia

Sources

Phenotypes

Green OFD1 in Ataxia - paediatric

Sources

Phenotypes

Green OFD1 in Retinitis pigmentosa_Autosomal Recessive/X-linked

Sources

Phenotypes

Green OFD1 in Syndromic Retinopathy

Sources

Phenotypes

Green OFD1 in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Green OFD1 in Additional findings_Paediatric

Sources

Phenotypes

Green OFD1 in Clefting disorders

Sources

Phenotypes

Green OFD1 in Fetal anomalies

Sources

Phenotypes

Green OFD1 in Prepair 1000+

Sources

Phenotypes

Red OFD1 in Genomic newborn screening: BabyScreen+

Sources

Phenotypes

Green OFD1 in Prepair 500+

Sources

Phenotypes