| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Alternating Hemiplegia and Hemiplegic Migraine v0.57 | CST3 | Bryony Thompson Marked gene: CST3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.57 | CST3 | Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.57 | CST3 | Bryony Thompson Classified gene: CST3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.57 | CST3 | Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.56 | CST3 |
Bryony Thompson gene: CST3 was added gene: CST3 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CST3 were set to 38489591 Phenotypes for gene: CST3 were set to leukodystrophy MONDO:0019046, CST3-related Mode of pathogenicity for gene: CST3 was set to Other Review for gene: CST3 was set to GREEN Added comment: 16 patients from 8 leukodystrophy families carrying one of four different stop-gain or frameshift dominant variants in the C-terminal (in the NMD-exclusion zone) of the CST3 gene. Suggested mechanism of disease by rendering the protein more prone to aggregation. The clinical phenotype consists of recurrent episodes of hemiplegic migraine associated with transient unilateral focal deficits and slowly progressing motor symptoms and cognitive decline in mid-old adult ages. Clinical & radiological features differ from Cerebral Amyloid Angiopathy. Sources: Literature |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.55 | SCN2A | Zornitza Stark Marked gene: SCN2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.55 | SCN2A | Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.55 | SCN2A | Zornitza Stark Classified gene: SCN2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.55 | SCN2A | Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.54 | SCN2A |
Ee Ming Wong gene: SCN2A was added gene: SCN2A was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to 38097767 Phenotypes for gene: SCN2A were set to Alternating hemiplegia of childhood MONDO:0016241, SCN2A-related Review for gene: SCN2A was set to GREEN gene: SCN2A was marked as current diagnostic Added comment: - 1x in-frame del and 2x missense variants identified in three individuals with typical alternating hemiplegia of childhood (2x confirmed de novo, 1x unknown inheritance) - Loss of function demonstrated by functional studies of all three variants (mutant transcripts transfected into HEK293T cells showed either complete loss of function or altered electrophysiological properties) Sources: Literature |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.54 | Zornitza Stark List of related panels changed from to Hemiplegia; HP:0002301;Migraine; HP:0002076 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.53 | CLDN5 |
Hazel Phillimore changed review comment from: PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg). One with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting. The other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. CT scans of both showed brain calcifications and aberrant blood flow patterns. Transfected HEK cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability of the blood brain barrier when compared to wildtype. Sources: Literature; to: PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg). One with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting. The other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. CT scans of both showed brain calcifications and aberrant blood flow patterns. Transfected cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability when compared to wildtype. Sources: Literature |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.53 | CLDN5 |
Hazel Phillimore changed review comment from: PMID: 35714222; Hashimoto, Y et al (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, c.178G>A, p.(Gly60Arg). One with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting. The other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. CT scans of both showed brain calcifications and aberrant blood flow patterns. Transfected HEK cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability of the blood brain barrier when compared to wildtype. Sources: Literature; to: PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg). One with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting. The other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. CT scans of both showed brain calcifications and aberrant blood flow patterns. Transfected HEK cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability of the blood brain barrier when compared to wildtype. Sources: Literature |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.53 | CLDN5 | Zornitza Stark Marked gene: CLDN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.53 | CLDN5 | Zornitza Stark Gene: cldn5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.53 | CLDN5 | Zornitza Stark Phenotypes for gene: CLDN5 were changed from alternating hemiplegia with microcephaly to alternating hemiplegia, MONDO:0016210, CLDN5-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.52 | CLDN5 | Zornitza Stark Classified gene: CLDN5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.52 | CLDN5 | Zornitza Stark Gene: cldn5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.51 | CLDN5 |
Hazel Phillimore gene: CLDN5 was added gene: CLDN5 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN5 were set to PMID: 35714222 Phenotypes for gene: CLDN5 were set to alternating hemiplegia with microcephaly Mode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CLDN5 was set to AMBER Added comment: PMID: 35714222; Hashimoto, Y et al (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, c.178G>A, p.(Gly60Arg). One with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting. The other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. CT scans of both showed brain calcifications and aberrant blood flow patterns. Transfected HEK cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability of the blood brain barrier when compared to wildtype. Sources: Literature |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.51 | RHOBTB2 | Zornitza Stark Marked gene: RHOBTB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.51 | RHOBTB2 | Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.51 | RHOBTB2 | Zornitza Stark Classified gene: RHOBTB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.51 | RHOBTB2 | Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.50 | RHOBTB2 |
Zornitza Stark gene: RHOBTB2 was added gene: RHOBTB2 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHOBTB2 were set to 33504645 Phenotypes for gene: RHOBTB2 were set to Developmental and epileptic encephalopathy 64 618004; Alternating hemiplegia Review for gene: RHOBTB2 was set to GREEN Added comment: Eleven affected patients were identified. All had heterozygous missense variants involving exon 9 of RHOBTB2, confirmed as de novo in 9 cases. All had a complex motor phenotype, including at least 2 different kinds of movement disorder, e.g., ataxia and dystonia. Many patients demonstrated several features fulfilling the criteria for AHC: 10 patients had a movement disorder including paroxysmal elements, and 8 experienced hemiplegic episodes. In contrast to classic AHC, commonly caused by mutations in ATP1A3, these events were reported later only in RHOBTB2 mutation-positive patients from 20 months of age. All had ID, and many had seizures, so this represents an expansion of the phenotype rather than a distinct disorder. Sources: Literature |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.49 | SLC4A4 | Bryony Thompson Marked gene: SLC4A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.49 | SLC4A4 | Bryony Thompson Gene: slc4a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.49 | SLC4A4 | Bryony Thompson Classified gene: SLC4A4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.49 | SLC4A4 | Bryony Thompson Gene: slc4a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.48 | SLC4A4 |
Bryony Thompson gene: SLC4A4 was added gene: SLC4A4 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 20798035; 33439394 Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278; hemiplegic migraine Review for gene: SLC4A4 was set to GREEN Added comment: At least 3 homozygous cases/families (1 isolated case & 2 consanguineous families) with hemiplegic migraine along with renal tubular acidosis, and supporting functional evidence demonstrating loss of protein activity. An additional 3 homozygous cases also reported with migraine with or without aura. Sources: Literature |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.47 | SLC1A3 | Bryony Thompson Classified gene: SLC1A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.47 | SLC1A3 | Bryony Thompson Gene: slc1a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.46 | SLC1A3 | Bryony Thompson reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29066757, 32754645, 16116111; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.46 | PRRT2 | Bryony Thompson Classified gene: PRRT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.46 | PRRT2 | Bryony Thompson Gene: prrt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.45 | PRRT2 | Bryony Thompson reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23077016, 23077026, 26598493, 26598494, 33126500; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.45 | SLC2A1 | Zornitza Stark Marked gene: SLC2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.45 | SLC2A1 | Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.45 | SLC2A1 | Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to Hemiplegic migraine | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.44 | SLC2A1 | Zornitza Stark Publications for gene: SLC2A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.43 | SLC2A1 | Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.42 | SLC2A1 | Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25440161, 24824604, 20621801; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.42 | SLC1A3 | Zornitza Stark Marked gene: SLC1A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.42 | SLC1A3 | Zornitza Stark Gene: slc1a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.42 | SLC1A3 | Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Hemiplegic migraine | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.41 | SLC1A3 | Zornitza Stark Publications for gene: SLC1A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.40 | SLC1A3 | Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.39 | SLC1A3 | Zornitza Stark Classified gene: SLC1A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.39 | SLC1A3 | Zornitza Stark Gene: slc1a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.38 | SLC1A3 | Zornitza Stark reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32754645, 16116111; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.38 | ATP1A4 | Zornitza Stark Marked gene: ATP1A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.38 | ATP1A4 | Zornitza Stark Gene: atp1a4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.38 | ATP1A4 |
Zornitza Stark gene: ATP1A4 was added gene: ATP1A4 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature Mode of inheritance for gene: ATP1A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A4 were set to 32549268 Phenotypes for gene: ATP1A4 were set to Hemiplegic migraine Review for gene: ATP1A4 was set to RED Added comment: Single family reported where missense variant segregated with hemiplegic migraine in four affected individuals. Sources: Literature |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.37 | SCN1A | Zornitza Stark Marked gene: SCN1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.37 | SCN1A | Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.37 | SCN1A | Zornitza Stark Phenotypes for gene: SCN1A were changed from to Migraine, familial hemiplegic, 3, MIM# 609634 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.36 | SCN1A | Zornitza Stark Publications for gene: SCN1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.35 | SCN1A | Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.34 | SCN1A | Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904117, 30498473, 30038559, 29986598; Phenotypes: Migraine, familial hemiplegic, 3, MIM# 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.34 | PNKD | Zornitza Stark Marked gene: PNKD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.34 | PNKD | Zornitza Stark Gene: pnkd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.34 | PNKD | Zornitza Stark Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.33 | PNKD | Zornitza Stark Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.32 | PNKD | Zornitza Stark Classified gene: PNKD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.32 | PNKD | Zornitza Stark Gene: pnkd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.31 | PNKD | Zornitza Stark reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.31 | KCNK18 | Zornitza Stark Marked gene: KCNK18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.31 | KCNK18 | Zornitza Stark Gene: kcnk18 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.31 | KCNK18 | Zornitza Stark Phenotypes for gene: KCNK18 were changed from to {Migraine, with or without aura, susceptibility to, 13}, MIM# 613656 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.30 | KCNK18 | Zornitza Stark Publications for gene: KCNK18 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.29 | KCNK18 | Zornitza Stark Mode of inheritance for gene: KCNK18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.28 | KCNK18 | Zornitza Stark reviewed gene: KCNK18: Rating: GREEN; Mode of pathogenicity: None; Publications: 20871611, 32394190, 30573346, 23904616, 22355750; Phenotypes: {Migraine, with or without aura, susceptibility to, 13}, MIM# 613656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.27 | KCNA1 | Zornitza Stark Marked gene: KCNA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.27 | KCNA1 | Zornitza Stark Gene: kcna1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.27 | KCNA1 | Zornitza Stark Phenotypes for gene: KCNA1 were changed from to Episodic ataxia/myokymia syndrome, MIM# 160120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.26 | KCNA1 | Zornitza Stark Publications for gene: KCNA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.25 | KCNA1 | Zornitza Stark Mode of inheritance for gene: KCNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.24 | KCNA1 | Zornitza Stark Classified gene: KCNA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.24 | KCNA1 | Zornitza Stark Gene: kcna1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.23 | KCNA1 | Zornitza Stark reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25642194; Phenotypes: Episodic ataxia/myokymia syndrome, MIM# 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.23 | CACNA1A | Zornitza Stark Marked gene: CACNA1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.23 | CACNA1A | Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.23 | CACNA1A | Zornitza Stark Phenotypes for gene: CACNA1A were changed from to Migraine, familial hemiplegic, 1, MIM# 141500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.22 | CACNA1A | Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.21 | CACNA1A | Zornitza Stark reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Migraine, familial hemiplegic, 1, MIM# 141500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.21 | PRRT2 | Zornitza Stark Marked gene: PRRT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.21 | PRRT2 | Zornitza Stark Gene: prrt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.21 | PRRT2 | Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.20 | PRRT2 | Zornitza Stark Publications for gene: PRRT2 were set to 22101681; 22744660; 31124310; 26561923 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.19 | PRRT2 | Zornitza Stark Classified gene: PRRT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.19 | PRRT2 | Zornitza Stark Gene: prrt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.18 | PRRT2 | Zornitza Stark reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24928127; Phenotypes: Episodic kinesigenic dyskinesia 1, MIM# 128200, Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.18 | PRRT2 | Zornitza Stark Publications for gene: PRRT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.17 | PRRT2 | Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.16 | NOTCH3 | Zornitza Stark Marked gene: NOTCH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.16 | NOTCH3 | Zornitza Stark Gene: notch3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.16 | ATP1A3 | Zornitza Stark Marked gene: ATP1A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.16 | ATP1A3 | Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.16 | ATP1A3 | Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM# 614820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.15 | ATP1A3 | Zornitza Stark Publications for gene: ATP1A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.14 | ATP1A3 | Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.13 | ATP1A3 | Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22842232, 22850527, 24842602; Phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.13 | ATP1A2 | Zornitza Stark Marked gene: ATP1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.13 | ATP1A2 | Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.13 | ATP1A2 | Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.12 | ATP1A2 | Zornitza Stark Publications for gene: ATP1A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.11 | ATP1A2 | Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.10 | ATP1A2 | Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24097848, 21352219, 17435187, 15286158; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.10 | NOTCH3 | Bryony Thompson Classified gene: NOTCH3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.10 | NOTCH3 | Bryony Thompson Gene: notch3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.9 | NOTCH3 |
Bryony Thompson gene: NOTCH3 was added gene: NOTCH3 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Expert list Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH3 were set to 22250206; 10356105; 27881154; 28271496 Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310 Review for gene: NOTCH3 was set to AMBER Added comment: Migraine with aura is a common feature of CADASIL and the condition can be misdiagnosed as familial hemiplegic migraine. However, can only find one family reported with a confirmed NOTCH3 variant and a diagnosis of hemiplegic migraine (PMID: 22250206). Sources: Expert list |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.8 | Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.7 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.6 | Zornitza Stark Panel name changed from Alternating hemiplegia including hemiplegic migraine to Alternating Hemiplegia and Hemiplegic Migraine | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.5 |
Zornitza Stark Panel name changed from Alternating hemiplegia including hemiplegic migraine_VCGS to Alternating hemiplegia including hemiplegic migraine Panel types changed to Victorian Clinical Genetics Services |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.4 | CACNB4 | Zornitza Stark Marked gene: CACNB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.4 | CACNB4 | Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.4 | CACNB4 | Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.3 | CACNB4 | Zornitza Stark Publications for gene: CACNB4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.2 | CACNB4 | Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.1 | CACNB4 | Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.1 | CACNB4 | Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | CACNB4 | Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | PRRT2 | Michelle Torres reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 22101681, PMID 22744660, PMID 31124310, PMID 26561923; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066, Episodic kinesigenic dyskinesia 1, 128200, Seizures, benign familial infantile, 2, 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | SLC2A1 |
Zornitza Stark gene: SLC2A1 was added gene: SLC2A1 was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC2A1 was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | SLC1A3 |
Zornitza Stark gene: SLC1A3 was added gene: SLC1A3 was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC1A3 was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | SCN1A |
Zornitza Stark gene: SCN1A was added gene: SCN1A was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN1A was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | PRRT2 |
Zornitza Stark gene: PRRT2 was added gene: PRRT2 was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRRT2 was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | PNKD |
Zornitza Stark gene: PNKD was added gene: PNKD was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PNKD was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | KCNK18 |
Zornitza Stark gene: KCNK18 was added gene: KCNK18 was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNK18 was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | KCNA1 |
Zornitza Stark gene: KCNA1 was added gene: KCNA1 was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNA1 was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | CACNB4 |
Zornitza Stark gene: CACNB4 was added gene: CACNB4 was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNB4 was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | CACNA1A |
Zornitza Stark gene: CACNA1A was added gene: CACNA1A was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNA1A was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | ATP1A3 |
Zornitza Stark gene: ATP1A3 was added gene: ATP1A3 was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP1A3 was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP1A2 was set to Unknown |
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| Alternating Hemiplegia and Hemiplegic Migraine v0.0 | Zornitza Stark Added panel Alternating hemiplegia including hemiplegic migraine_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||