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Congenital hyperinsulinism v2.32 | CACNA1D |
Arina Puzriakova Tag Q3_22_rating was removed from gene: CACNA1D. Tag Q3_22_NHS_review was removed from gene: CACNA1D. |
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Congenital hyperinsulinism v2.32 | CACNA1D | Arina Puzriakova reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v2.31 | CACNA1D |
Arina Puzriakova Source Expert Review Green was added to CACNA1D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Congenital hyperinsulinism v2.23 | CACNA1D |
Sarah Leigh Tag Q3_22_rating tag was added to gene: CACNA1D. Tag Q3_22_NHS_review tag was added to gene: CACNA1D. |
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Congenital hyperinsulinism v2.23 | CACNA1D | Sarah Leigh edited their review of gene: CACNA1D: Added comment: Associated with phenotype in OMIM and as strong Gen2Phen gene for Primary aldosteronism, seizures, and neurologic abnormalities (OMIM:615474). Two variants have been reported in two unrelated cases of congenital hyperinsulinaemic hypoglycaemia; PMID: 28318089 reports: c.1319G>A (p.G403D) in a case who also has heart defects and severe hypotonia and PMID: 32336187 reports: c.812T>A (p.L271H) in a case who also has primary hyperaldosteronism and hypotonia. A third de novo case has been reported in the review provided by Eleanor Williams on behalf of Jayne Houghton and Kevin Colclough, Exeter Genomics Laboratory, SWGLH.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v2.23 | CACNA1D | Sarah Leigh Classified gene: CACNA1D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v2.23 | CACNA1D | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v2.23 | CACNA1D | Sarah Leigh Gene: cacna1d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v2.22 | CACNA1D | Sarah Leigh Publications for gene: CACNA1D were set to 28318089 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v2.12 | CACNA1D | Eleanor Williams reviewed gene: CACNA1D: Rating: ; Mode of pathogenicity: ; Publications: 28318089, 32336187; Phenotypes: congenital hyperinsulinism, hypotonia and heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v1.52 | CACNA1D | Ivone Leong edited their review of gene: CACNA1D: Added comment: There is currently insufficient evidence for the promotion of this gene to a different gene status; therefore, it will remain red for now.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v1.21 | CACNA1D | Ivone Leong Phenotypes for gene: CACNA1D were changed from to hyperinsulinaemic hypoglycaemia, heart defects; severe hypotonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v1.20 | CACNA1D | Ivone Leong Publications for gene: CACNA1D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v1.19 | CACNA1D | Ivone Leong Mode of inheritance for gene: CACNA1D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v1.8 | CACNA1D | Jayne Houghton reviewed gene: CACNA1D: Rating: ; Mode of pathogenicity: Other; Publications: 28318089; Phenotypes: hyperinsulinaemic hypoglycaemia, heart defects, severe hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v1.8 | CACNA1D | Jayne Houghton Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v1.8 | CACNA1D | Jayne Houghton reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28318089; Phenotypes: hyperinsulinaemic hypoglycaemia, heart defects, severe hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v1.6 | CACNA1D | Ivone Leong reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital hyperinsulinism v1.5 | CACNA1D |
Ivone Leong gene: CACNA1D was added gene: CACNA1D was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: CACNA1D was set to |