CACNA1D

calcium voltage-gated channel subunit alpha1 D
OMIM: 114206, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Amber CACNA1D in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary aldosteronism, seizures and neurologic abnormalities PASNA, MIM#615474
Amber CACNA1D in Hyperinsulinism Level 2: Endocrine disorders Version 1.30	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Hyperinsulinism heart defect hypotonia
Green CACNA1D in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 MONDO:0014200 Sinoatrial node dysfunction and deafness, MIM# 614896
Green CACNA1D in Hypertension and Aldosterone disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.15 Component of the following Super Panels: Kidneyome_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 MONDO:0014200
Green CACNA1D in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474
Amber CACNA1D in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Sinoatrial node dysfunction and deafness, MIM# 614896
Green CACNA1D in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 intellectual disability autism epilepsy
Amber CACNA1D in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.67	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Sinoatrial node dysfunction and deafness, MIM# 614896
Red CACNA1D in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Sinoatrial node dysfunction and deafness
Green CACNA1D in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Red CACNA1D in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red BeginNGS Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 Sinoatrial node dysfunction and deafness
Green CACNA1D in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.17 Component of the following Super Panels: Kidneyome_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes MONDO:0014200 Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474