CC2D2A

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green CC2D2A in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes COACH syndrome 2, MIM# 619111
Green CC2D2A in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CC2D2A in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes COACH syndrome 2, MIM# 619111 Joubert syndrome 9, 612285 Meckel syndrome 6, 612284
Green CC2D2A in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CC2D2A in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, MIM# 612285 Meckel syndrome 6, MIM# 612284 COACH syndrome 2, MIM# 619111
Green CC2D2A in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, MIM# 612285 Meckel syndrome 6, MIM# 612284 COACH syndrome 2, MIM# 619111
Green CC2D2A in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green
Green CC2D2A in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Meckel syndrome 6, MIM# 612284
Green CC2D2A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, MIM#612285
Red CC2D2A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes COACH syndrome 2, MIM# 619111 Joubert syndrome 9, 612285 Meckel syndrome 6, 612284
Green CC2D2A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes COACH syndrome 2, MIM# 619111 Joubert syndrome 9, MIM#612285 Meckel syndrome 6, MIM#612284
Green CC2D2A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	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 Phenotypes Meckel syndrome 6 612284
Green CC2D2A in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 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 Phenotypes Joubert syndrome 9
Green CC2D2A in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes COACH syndrome, MIM#216360 Joubert syndrome 9, MIM#612285 Meckel syndrome 6, MIM#612284 Retinitis pigmentosa 93, MIM# 619845
Green CC2D2A 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 Joubert syndrome 9, 612285 (3)
Green CC2D2A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Joubert syndrome
Green CC2D2A in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes MKS6 Meckel-Gruber syndrome Meckel syndrome 6, 612284
Green CC2D2A in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, MIM# 612285 Meckel syndrome 6, MIM# 612284 COACH syndrome 2, MIM# 619111
Green CC2D2A in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 9, 612285 (3)
Red CC2D2A in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Joubert syndrome 9, MIM# 612285 Meckel syndrome 6, MIM# 612284 COACH syndrome 2, MIM# 619111
Green CC2D2A in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 9, 612285 (3)

CC2D2A

21 panels

Green CC2D2A in Anophthalmia_Microphthalmia_Coloboma

Sources

Phenotypes

Green CC2D2A in Cholestasis

Sources

Green CC2D2A in Ciliopathies

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Phenotypes

Green CC2D2A in Hydrocephalus_Ventriculomegaly

Sources

Green CC2D2A in Joubert syndrome and other neurological ciliopathies

Sources

Phenotypes

Green CC2D2A in Mendeliome

Sources

Phenotypes

Green CC2D2A in Polydactyly

Sources

Green CC2D2A in Renal Ciliopathies and Nephronophthisis

Sources

Phenotypes

Green CC2D2A in Genetic Epilepsy

Sources

Phenotypes

Red CC2D2A in Regression

Sources

Phenotypes

Green CC2D2A in Intellectual disability syndromic and non-syndromic

Sources

Phenotypes

Green CC2D2A in Skeletal dysplasia

Sources

Phenotypes

Green CC2D2A in Ataxia - paediatric

Sources

Phenotypes

Green CC2D2A in Syndromic Retinopathy

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Phenotypes

Green CC2D2A in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Green CC2D2A in Additional findings_Paediatric

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Phenotypes

Green CC2D2A in Clefting disorders

Sources

Phenotypes

Green CC2D2A in Fetal anomalies

Sources

Phenotypes

Green CC2D2A in Prepair 1000+

Sources

Phenotypes

Red CC2D2A in BabyScreen+ newborn screening

Sources

Phenotypes

Green CC2D2A in Prepair 500+

Sources

Phenotypes