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Pituitary hormone deficiency v3.9 KCNQ1 Achchuthan Shanmugasundram Tag Q1_24_NHS_review tag was added to gene: KCNQ1.
Pituitary hormone deficiency v3.9 KCNQ1 Achchuthan Shanmugasundram Publications for gene: KCNQ1 were set to 29097701
Pituitary hormone deficiency v3.8 KCNQ1 Achchuthan Shanmugasundram Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v3.8 KCNQ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 that this gene has insufficient evidence for promotion to green rating.

There is an additional case reported with a previously identified variant (p.Pro369Leu) and growth hormone deficiency. Hence, I am tagging this gene for expert review by the NHSE to assess whether this evidence is sufficient for promotion to green rating.
Pituitary hormone deficiency v3.8 KCNQ1 Achchuthan Shanmugasundram Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram commented on gene: KCNQ1: As reviewed by Suzanne Page, PMID:36077086 reports two unrelated cases with KCNQ1 variants in addition to the cases previously reported in PMID: 29097701 with pituitary hormone deficiency and maternally inherited gingival fibromatosis. The single individual reported in PMID:36077086 with p.Pro369Leu variant had growth hormone deficiency and postnatal growth retardation in addition to coarse facial features and early-onset gingival overgrowth. However, three members of the other family with p.Val185Met variant had only coarse facial features and early-onset gingival overgrowth.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36077086; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram Deleted their review
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 that this gene has insufficient evidence for promotion to green rating.

There is an additional case reported with a previously reported variant (p.Pro369Leu) and growth hormone deficiency. Hence, I am tagging this gene for expert review by the NHSE to assess whether this evidence is sufficient for promotion to green rating.; to: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 that this gene has insufficient evidence for promotion to green rating.

There is an additional case reported with a previously identified variant (p.Pro369Leu) and growth hormone deficiency. Hence, I am tagging this gene for expert review by the NHSE to assess whether this evidence is sufficient for promotion to green rating.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 to have insufficient evidence for promotion to green rating. Hence, I am tagging this gene for expert review by the NHSE.; to: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 that this gene has insufficient evidence for promotion to green rating.

There is an additional case reported with a previously reported variant (p.Pro369Leu) and growth hormone deficiency. Hence, I am tagging this gene for expert review by the NHSE to assess whether this evidence is sufficient for promotion to green rating.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 to have insufficient evidence for promotion to green rating. Hence, I am tagging this gene for expert review by the GLHs.; to: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 to have insufficient evidence for promotion to green rating. Hence, I am tagging this gene for expert review by the NHSE.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 to have insufficient evidence for promotion to green rating. Hence, I am tagging this gene for expert review by the GLHs.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v3.6 KCNQ1 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: KCNQ1.
Tag Q1_24_expert_review tag was added to gene: KCNQ1.
Pituitary hormone deficiency v3.6 KCNQ1 Achchuthan Shanmugasundram Mode of inheritance for gene: KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v3.5 KCNQ1 Achchuthan Shanmugasundram reviewed gene: KCNQ1: 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: 36077086; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v3.5 KCNQ1 Suzanne Page changed review comment from: Bauer et al 2022 PMID: 36077086 - Identified a single individual with the KCNQ1 variant P369L and three family members with the V185M variant. All had gingival overgrowth. Tommiska et al 2017 (PMID: 29097701) have already identified 3 families affected with pituitary hormone deficiency and maternally inherited gingival fibromatosis. Bauer et al showed that all 3 variants impaired Ca2+ sensitivity of the mutant KCNQ1 channels. With low Ca2+, wild-type KCNQ1 currents were efficiently reduced and exhibited a pre-pulse-dependent cross-over of current traces and a high-voltage-activated component.; to: Bauer et al 2022 PMID: 36077086 - Identified a single individual with the KCNQ1 variant P369L and three family members with the V185M variant. All had gingival overgrowth. Tommiska et al 2017 (PMID: 29097701) have already identified 3 families affected with pituitary hormone deficiency and maternally inherited gingival fibromatosis. Bauer et al showed that all 3 variants impaired Ca2+ sensitivity of the mutant KCNQ1 channels. With low Ca2+, wild-type KCNQ1 currents were efficiently reduced and exhibited a pre-pulse-dependent cross-over of current traces and a high-voltage-activated component. They suggest that the impaired Ca2+ sensitivity of the KCNQ1 mutant channels R116L, V185M and P369L is causally related to their gain-of-function when forming heteromers with KCNE2.
Pituitary hormone deficiency v3.5 KCNQ1 Suzanne Page reviewed gene: KCNQ1: 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: 36077086; Phenotypes: Gingival overgrowth, with or without postnatal growth retardation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v2.50 KCNQ1 Eleanor Williams commented on gene: KCNQ1: No new evidence reported since the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group at that point agreed that there is insufficient evidence to rate this gene as green. Therefore leaving this gene amber for now.
Pituitary hormone deficiency v2.15 KCNQ1 Eleanor Williams reviewed gene: KCNQ1: Rating: ; Mode of pathogenicity: ; Publications: 29097701; Phenotypes: Maternally inherited gingival fibromatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v0.71 KCNQ1 Ivone Leong Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.71 KCNQ1 Ivone Leong Added comment: Comment on list classification: Comment on list classification: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So demoted from green to amber.
Pituitary hormone deficiency v0.71 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.68 KCNQ1 Ivone Leong Classified gene: KCNQ1 as Green List (high evidence)
Pituitary hormone deficiency v0.68 KCNQ1 Ivone Leong Added comment: Comment on list classification: Promoted from green to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Pituitary hormone deficiency v0.68 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.67 KCNQ1 Martina Owens reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29097701; Phenotypes: ; Mode of inheritance:
Pituitary hormone deficiency v0.65 KCNQ1 Ivone Leong Marked gene: KCNQ1 as ready
Pituitary hormone deficiency v0.65 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.8 KCNQ1 Ivone Leong Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.8 KCNQ1 Ivone Leong Added comment: Comment on list classification: Demoted from green to amber based on literature evidence. KCNQ1 is not associated with pituitary hormone deficiency in OMIM or Gene2Phenotype. PMID: 29097701 found that 3 unrelated families (2 Finnish and 1 Argentinian) with pituitary hormone deficiency and maternally inherited gingival fibromatosis have missense variants in the KCNQ1 gene.
Pituitary hormone deficiency v0.8 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.7 KCNQ1 Ivone Leong Tag watchlist tag was added to gene: KCNQ1.
Pituitary hormone deficiency v0.7 KCNQ1 Ivone Leong gene: KCNQ1 was added
gene: KCNQ1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ1 were set to 29097701
Phenotypes for gene: KCNQ1 were set to Long QT syndrome 1 (192500); Pituitary hormone deficiency