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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.
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)
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.
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