KIF7

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Green KIF7 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.230	review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green KIF7 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 12, MIM# 200990 Acrocallosal syndrome, MIM# 200990 MONDO:0008708 Hydrolethalus syndrome 2, MIM# 614120
Amber KIF7 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Hydrolethalus syndrome 2, MIM# 614120 Acrocallosal syndrome
Green KIF7 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.28	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 12, MIM# 200990 Acrocallosal syndrome, MIM# 200990 MONDO:0008708 Hydrolethalus syndrome 2, MIM# 614120
Green KIF7 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KIF7 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 12, MIM# 200990 Acrocallosal syndrome, MIM# 200990 MONDO:0008708 Hydrolethalus syndrome 2, MIM# 614120
Green KIF7 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green
Amber KIF7 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Acrocallosal syndrome, MIM# 200990 Joubert syndrome 12, MIM# 200990
Red KIF7 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.26 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Acrocallosal syndrome, MIM# 200990 Joubert syndrome 12, MIM# 200990
Green KIF7 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KIF7 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KIF7 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes acrocallosal syndrome MONDO:0008708 KIF7-related ciliopathy MONDO:0800463 Joubert syndrome 12 MIM#200990
Green KIF7 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Hydrolethalus syndrome 2 614120 Acrocallosal syndrome 200990 Joubert syndrome 12 200990 Al-Gazali-Bakalinova syndrome 607131
Green KIF7 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Koubert syndrome 12 Acrocallosal syndrome, Schinzel type
Green KIF7 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrolethalus syndrome 2, 614120 (3)
Green KIF7 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ACLS ACROCALLOSAL SYNDROME
Green KIF7 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Hydrolethalus syndrome 2, MIM# 614120 Acrocallosal syndrome
Green KIF7 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrolethalus syndrome 2, 614120 (3)
Green KIF7 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrolethalus syndrome 2, 614120 (3)

KIF7

19 panels

Green KIF7 in Skeletal Dysplasia_Fetal

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Green KIF7 in Ciliopathies

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Phenotypes

Amber KIF7 in Hydrocephalus_Ventriculomegaly

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Phenotypes

Green KIF7 in Joubert syndrome and other neurological ciliopathies

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Phenotypes

Green KIF7 in Macrocephaly_Megalencephaly

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Green KIF7 in Mendeliome

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Phenotypes

Green KIF7 in Polydactyly

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Amber KIF7 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy

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Phenotypes

Red KIF7 in Renal Ciliopathies and Nephronophthisis

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Phenotypes

Green KIF7 in Callosome

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Green KIF7 in Regression

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Green KIF7 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green KIF7 in Skeletal dysplasia

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Phenotypes

Green KIF7 in Ataxia - paediatric

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Phenotypes

Green KIF7 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Green KIF7 in Clefting disorders

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Phenotypes

Green KIF7 in Fetal anomalies

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Phenotypes

Green KIF7 in Prepair 1000+

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Phenotypes

Green KIF7 in Prepair 500+

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Phenotypes