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| Ataxia and cerebellar anomalies - narrow panel v4.38 | SCN2A | Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SCN2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.37 | SCN2A | Eleanor Williams reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.35 | SCN2A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCN2A. Source NHS GMS was added to SCN2A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v3.9 | SCN2A | Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: SCN2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.9 | SCN2A | Achchuthan Shanmugasundram Phenotypes for gene: SCN2A were changed from Epileptic encephalopathy, early infantile, 11, MIM# 613721 to Episodic ataxia, type 9, MIM# 618924, MONDO:0030064; Developmental and epileptic encephalopathy 11, MIM# 613721, MONDO:0013388 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.8 | SCN2A | Achchuthan Shanmugasundram Publications for gene: SCN2A were set to 31924505; 32893078; 31904126 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.7 | SCN2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SCN2A was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.6 | SCN2A | Achchuthan Shanmugasundram Classified gene: SCN2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.6 | SCN2A | Achchuthan Shanmugasundram Gene: scn2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.5 | SCN2A | Achchuthan Shanmugasundram reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 20956790, 26291284, 26645390, 27159988, 27328862, 28065826, 30165711, 30741786, 30813219, 30928199, 32893078, 35219921; Phenotypes: Episodic ataxia, type 9, MIM# 618924, MONDO:0030064, Developmental and epileptic encephalopathy 11, MIM# 613721, MONDO:0013388; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | SCN2A |
Zornitza Stark gene: SCN2A was added gene: SCN2A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to 31924505; 32893078; 31904126 Phenotypes for gene: SCN2A were set to Epileptic encephalopathy, early infantile, 11, MIM# 613721 Review for gene: SCN2A was set to GREEN gene: SCN2A was marked as current diagnostic Added comment: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia, especially episodic ataxia. Sources: Expert list |
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