GJA1

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green GJA1 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oculodentodigital dysplasia, autosomal recessive, MIM# 257850 Oculodentodigital dysplasia, MIM# 164200
Green GJA1 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.96 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Oculodentodigital dysplasia, MIM# 164200
Red GJA1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Oculodentodigital dysplasia, autosomal recessive, MIM# 257850
Green GJA1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GJA1 in Lymphoedema_nonsyndromic Level 2: Cardiovascular disorders Version 0.39 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GJA1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Oculodentodigital dysplasia, autosomal recessive, MIM# 257850 Oculodentodigital dysplasia, MIM# 164200
Green GJA1 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100) Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)
Red GJA1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Atrioventricular septal defect 3, MIM#600309 Craniometaphyseal dysplasia, autosomal recessive, MIM#218400 Erythrokeratodermia variabilis et progressiva 3, MIM#617525 Hypoplastic left heart syndrome 1, MIM#241550 Oculodentodigital dysplasia, MIM#164200 Oculodentodigital dysplasia, autosomal recessive, MIM#257850 Palmoplantar keratoderma with congenital alopecia, MIM#104100 Syndactyly, type III, MIM# 186100
Green GJA1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Phenotypes Oculodentodigital dysplasia 164200 Erythrokeratodermia variabilis et progressiva 133200 Palmoplantar keratoderma with congenital alopecia 104100 Hypoplastic left heart syndrome 1 241550 Oculodentodigital dysplasia, autosomal recessive 257850 Craniometaphyseal dysplasia, autosomal recessive 218400 Syndactyly, type III 186100
Green GJA1 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary spastic paraplegia Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Green GJA1 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.11 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hereditary spastic paraplegia Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Green GJA1 in Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH Expert list Phenotypes Oculodentodigital dysplasia 164200
Green GJA1 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 Hypoplastic left heart syndrome 1, 241550 (3)
Green GJA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Oculodentodigital dysplasia
Green GJA1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Oculodentodigital dysplasia,164200 ODDD
Red GJA1 in Mosaic skin disorders Level 2: Dermatological disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Unknown	Sources Expert Review Red Other Phenotypes Inflammatory linear verrucous epidermal naevus (ILVEN)
Green GJA1 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hypoplastic left heart syndrome 1 241550 Syndactyly, type III 186100 Oculodentodigital dysplasia 164200 Palmoplantar keratoderma with congenital alopecia 104100 Craniometaphyseal dysplasia, autosomal recessive 218400 Erythrokeratodermia variabilis et progressiva 133200 Oculodentodigital dysplasia, autosomal recessive 257850
Green GJA1 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Atrioventricular septal defect 3, MIM#600309 Craniometaphyseal dysplasia, autosomal recessive, MIM#218400 Hypoplastic left heart syndrome 1, MIM#241550 Oculodentodigital dysplasia, MIM#164200 Oculodentodigital dysplasia, autosomal recessive, MIM#257850 Syndactyly, type III, MIM# 186100
Green GJA1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypoplastic left heart syndrome 1, 241550 (3)
Red GJA1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Oculodentodigital dysplasia, autosomal recessive, MIM# 257850 Oculodentodigital dysplasia, MIM# 164200

GJA1

20 panels

Green GJA1 in Anophthalmia_Microphthalmia_Coloboma

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Phenotypes

Green GJA1 in Brain Calcification

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Phenotypes

Red GJA1 in Cataract

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Phenotypes

Green GJA1 in Congenital Heart Defect

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Green GJA1 in Lymphoedema_nonsyndromic

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Green GJA1 in Mendeliome

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Phenotypes

Green GJA1 in Palmoplantar Keratoderma and Erythrokeratoderma

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Phenotypes

Red GJA1 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green GJA1 in Skeletal dysplasia

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Phenotypes

Green GJA1 in Leukodystrophy - adult onset

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Phenotypes

Green GJA1 in Hereditary Spastic Paraplegia - adult onset

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Phenotypes

Green GJA1 in Lymphoedema_syndromic

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Phenotypes

Green GJA1 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Green GJA1 in Additional findings_Paediatric

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Phenotypes

Green GJA1 in Clefting disorders

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Phenotypes

Red GJA1 in Mosaic skin disorders

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Phenotypes

Green GJA1 in Hand and foot malformations

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Phenotypes

Green GJA1 in Fetal anomalies

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Phenotypes

Green GJA1 in Prepair 1000+

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Phenotypes

Red GJA1 in BabyScreen+ newborn screening

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Phenotypes