Activity

Filter

Cancel
Date Panel Item Activity
146 actions
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v3.3 Eleanor Williams List of related panels changed from Familial hyperparathyroidism; Hypocalciuric hypercalcaemia; R151; R152 to Familial hyperparathyroidism; Hypocalciuric hypercalcaemia; R151
Panel version 3.2 has been signed off on 2022-11-30
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v3.2 Eleanor Williams Panel signed off version 3.0 has been removed
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-11-30
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v3.0 Arina Puzriakova promoted panel to version 3.0
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.23 Arina Puzriakova Panel name changed from Familial hyperparathyroidism to Familial hyperparathyroidism or hypocalciuric hypercalcaemia
List of related panels changed from R151 to Familial hyperparathyroidism; Hypocalciuric hypercalcaemia; R151; R152
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.22 GNA11 Arina Puzriakova Classified gene: GNA11 as Green List (high evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.22 GNA11 Arina Puzriakova Gene: gna11 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.21 GNA11 Arina Puzriakova gene: GNA11 was added
gene: GNA11 was added to Familial hyperparathyroidism. Sources: NHS GMS
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNA11 were set to 23222959; 26729423
Phenotypes for gene: GNA11 were set to Hypocalcemia, autosomal dominant 2, OMIM:615361; Hypocalciuric hypercalcemia, type II, OMIM:145981
Review for gene: GNA11 was set to GREEN
Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green. GNA11 pathogenic variants are causative of FHH type 2 (much rarer than FHH1 and FHH3)
Sources: NHS GMS
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.20 CASR Arina Puzriakova Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635; 25162666; 28740527
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.19 CASR Arina Puzriakova Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1 to Hyperparathyroidism, neonatal, OMIM:239200; Hypocalcemia, autosomal dominant, OMIM:601198; Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198; Hypocalciuric hypercalcemia, type I, OMIM:145980; Familial isolated hyperparathyroidism; FHH1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.18 AP2S1 Arina Puzriakova Publications for gene: AP2S1 were set to 25162666; 28740527; 26963950
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.17 AP2S1 Arina Puzriakova Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III, 600740 to Hypocalciuric hypercalcemia, type III, OMIM:600740
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.16 AP2S1 Arina Puzriakova reviewed gene: AP2S1: Rating: ; Mode of pathogenicity: None; Publications: 33729479; Phenotypes: Hypocalciuric hypercalcemia, type III, OMIM:600740; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.16 GCM2 Ivone Leong Tag for-review was removed from gene: GCM2.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.16 GCM2 Ivone Leong commented on gene: GCM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.15 GCM2 Ivone Leong Source Expert Review Green was added to GCM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.14 CDKN1B Arina Puzriakova Phenotypes for gene: CDKN1B were changed from Multiple endocrine neoplasia, type IV (610755) to Multiple endocrine neoplasia, type IV, OMIM:610755
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.13 CDKN2C Ivone Leong Classified gene: CDKN2C as Amber List (moderate evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.13 CDKN2C Ivone Leong Added comment: Comment on list classification: This gene has been proposed to have Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is not associated with any phenotypes in OMIM or Gene2Phenotype.

Based on the currently available information there does not appear to be enough evidence to support a gene-disease association. Until more evidence is available this gene has been promoted from Red to Amber.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.13 CDKN2C Ivone Leong Gene: cdkn2c has been classified as Amber List (Moderate Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.12 CDKN2C Ivone Leong Tag watchlist tag was added to gene: CDKN2C.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.12 CDKN2C Ivone Leong Added comment: Comment on publications: PMID: 19141585 is study looking at cases of MEN1 or related states for germline mutations in all cyclin-dependent kinase inhibitor (CDKI) genes. 196 cases were tested. 1 case had CDKN2C V31L, who had primary HPT with a family history of HPT.

PMID: 23715670. 85 parathyroid adenomas from 85 cases were screened. 2 adenomas had CDKN2C variants (c.62 T>A, Leu21His and c.494C>T, Thr165Ile). Both cases have no family history of primary hyperparathyroidism (one germline case and one somatic case).

PMID: 30536424. 121 patients were screened. No variants were found in CDKN2C.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.12 CDKN2C Ivone Leong Publications for gene: CDKN2C were set to 19141585
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.11 CDKN2B Ivone Leong Classified gene: CDKN2B as Amber List (moderate evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.11 CDKN2B Ivone Leong Added comment: Comment on list classification: This gene has been proposed to have Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is not associated with any phenotypes in OMIM or Gene2Phenotype.

Based on the currently available information there does not appear to be enough evidence to support a gene-disease association. Until more evidence is available this gene has been promoted from Red to Amber.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.11 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Amber List (Moderate Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.10 CDKN2B Ivone Leong Tag watchlist tag was added to gene: CDKN2B.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.10 CDKN2B Ivone Leong Publications for gene: CDKN2B were set to 19141585
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.9 CDKN2B Ivone Leong Added comment: Comment on publications: PMID: 19141585 is study looking at cases of MEN1 or related states for germline mutations in all cyclin-dependent kinase inhibitor (CDKI) genes. 196 cases were tested. 2 case had CDKN2B N41D and L64R. Both cases had primary HPT and there is no family history of the phenotype.

PMID: 23715670. 85 parathyroid adenomas from 85 cases were screened. 1 adenoma had a CDKN2B variant (c.256G>A, Asp86Asn). There was no family history of primary hyperparathyroidism and variant was confirmed in the germline.

PMID: 30536424. 121 patients were screened. No variants were found in CDKN2B.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.9 CDKN2B Ivone Leong Publications for gene: CDKN2B were set to 19141585
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.8 CDKN1A Ivone Leong changed review comment from: Comment on list classification: This gene has been proposed to have Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

Based on the currently available information there does not appear to be enough evidence to support a gene-disease association. Until more evidence is available this gene has been promoted from Red to Amber.; to: Comment on list classification: This gene has been proposed to have Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Based on the currently available information there does not appear to be enough evidence to support a gene-disease association. Until more evidence is available this gene has been promoted from Red to Amber.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.8 CDKN1A Ivone Leong Tag watchlist tag was added to gene: CDKN1A.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.8 CDKN1A Ivone Leong Classified gene: CDKN1A as Amber List (moderate evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.8 CDKN1A Ivone Leong Added comment: Comment on list classification: This gene has been proposed to have Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

Based on the currently available information there does not appear to be enough evidence to support a gene-disease association. Until more evidence is available this gene has been promoted from Red to Amber.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.8 CDKN1A Ivone Leong Gene: cdkn1a has been classified as Amber List (Moderate Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.7 CDKN1A Ivone Leong Added comment: Comment on publications: PMID: 19141585 is study looking at cases of MEN1 or related states for germline mutations in all cyclin-dependent kinase inhibitor (CDKI) genes. 196 cases were tested. 1 case had CDKN1A R67L, who had primary HPT with a family history of HPT.

PMID: 23715670. 85 parathyroid adenomas from 85 cases were screened. 2 adenomas had CDKN1A variants (c.350G>A p.C117Y and c.26G>A p.R9H). Both cases have no family history of primary hyperparathyroidism (one germline and one of undetermined germline status).

PMID: 30536424. 121 patients were screened. A single CKDN1A VUS was identified (c.350G > A p.(Cys117Tyr)). The authors have deemed this variant likely benign based on gnomAD frequency of near 1 in 500 and reported as a VUS on ClinVar. This variant was also identified in PMID: 23715670.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.7 CDKN1A Ivone Leong Publications for gene: CDKN1A were set to 19141585
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.6 GCM2 Ivone Leong changed review comment from: PMID 31671402 is an additional paper report on the same variant that was detected previously by Guan et al 2016 and 2017. This gene is recommended to be promoted to Green at the next review.; to: Looking at the available evidence, there is an additional paper (PMID 31671402) reporting on the same variant that was detected previously by Guan et al 2016 and 2017. This gene is recommended to be promoted to Green at the next review.

This gene was proposed to be given Green status by Soo-Mi Park (East Anglian Medical Genetics Service).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.6 GCM2 Ivone Leong Tag for-review tag was added to gene: GCM2.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.6 GCM2 Ivone Leong edited their review of gene: GCM2: Added comment: PMID 31671402 is an additional paper report on the same variant that was detected previously by Guan et al 2016 and 2017. This gene is recommended to be promoted to Green at the next review.; Changed publications: 31671402
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.6 GCM2 Ivone Leong Publications for gene: GCM2 were set to 27745835; 29264504; 14715834; 29199197
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.4 Catherine Snow Panel version has been signed off
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.1 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.0 RET Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.0 Ivone Leong promoted panel to version 2.0
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.3 AP2S1 Ivone Leong commented on gene: AP2S1: Submitted on behalf of Treen Cranston (Oxford): codon 15 should be covered.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.3 RET Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston: exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.3 RET Ivone Leong commented on gene: RET: Submitted on behalf of Treena Cranston: exons 5,8,10,11,13,14,15 &16 should be covered.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.2 Ivone Leong List of related panels changed from to R151
Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.0 Ivone Leong promoted panel to version 1.0
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Marked gene: GCM2 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Added comment: Comment when marking as ready: 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.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Gene: gcm2 has been classified as Amber List (Moderate Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Deleted their comment
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 RET Ivone Leong commented on gene: RET: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 MEN1 Ivone Leong commented on gene: MEN1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 CDKN1B Ivone Leong commented on gene: CDKN1B: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 CASR Ivone Leong commented on gene: CASR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 AP2S1 Ivone Leong commented on gene: AP2S1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 CDC73 Ivone Leong commented on gene: CDC73: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Classified gene: GCM2 as Amber List (moderate evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Added comment: 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.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Gene: gcm2 has been classified as Amber List (Moderate Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.27 RET Ivone Leong Mode of inheritance for gene: RET was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.26 RET Treena Cranston commented on gene: RET: Specific activating mutations - targeted analysis most appropriate
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.26 GCM2 Martina Owens reviewed gene: GCM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27745835, 29264504; Phenotypes: ; Mode of inheritance:
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Marked gene: AP2S1 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Gene: ap2s1 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Classified gene: AP2S1 as Green List (high evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Added comment: Comment on list classification: Have given AP2S1 a green gene status as recommended by Treena Cranston's (Oxford) review.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Gene: ap2s1 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.24 AP2S1 Ivone Leong Publications for gene: AP2S1 were set to PMID: 25162666; PMID: 28740527
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.23 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from FHH3; Hypocalciuric hypercalcemia, type III, 600740 to Hypocalciuric hypercalcemia, type III, 600740
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.22 AP2S1 Ivone Leong Mode of inheritance for gene: AP2S1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.21 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from FHH3 to FHH3; Hypocalciuric hypercalcemia, type III, 600740
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.20 RET Ivone Leong Phenotypes for gene: RET were changed from Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400) to Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400)/MEN3
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.19 RET Ivone Leong Publications for gene: RET were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.18 MEN1 Ivone Leong Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia 1 (131100) to Multiple endocrine neoplasia 1 (131100); Familial isolated hyperparathyroidism
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.17 MEN1 Ivone Leong Publications for gene: MEN1 were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.16 GCM2 Ivone Leong Publications for gene: GCM2 were set to 27745835; 29264504; 14715834
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.15 CDKN1B Ivone Leong Publications for gene: CDKN1B were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.14 CASR Ivone Leong Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198) to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.13 CASR Ivone Leong Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.12 CDC73 Ivone Leong Publications for gene: CDC73 were set to 12434154; 15531515
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2C Treena Cranston reviewed gene: CDKN2C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Treena Cranston reviewed gene: CDKN2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1A Treena Cranston edited their review of gene: CDKN1A: Changed rating: RED
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1A Treena Cranston reviewed gene: CDKN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 AP2S1 Treena Cranston gene: AP2S1 was added
gene: AP2S1 was added to Familial hyperparathyroidism. Sources: Expert Review
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to PMID: 25162666; PMID: 28740527
Phenotypes for gene: AP2S1 were set to FHH3
Penetrance for gene: AP2S1 were set to unknown
gene: AP2S1 was marked as current diagnostic
Added comment: pathogenic mutations affecting codon 15 of AP2S1 are causative of FHH3. There can be clinical overlap between hyperparathyroidism and FHH and as such AP2S1, which is a simple test should be considered as part of the differential diagnosis. In our own cohort of individuals referred for the hyperparathyroidism panel we have detected 2 individuals with pathogenic AP2S1 variants (unpublished).
Due to clinical overlap and clinical management of the different conditions, Inclusion of the FHH genes on hyperparathyroidism gene panel lists is a recommendation from an international workshop: Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Fourth International Workshop PMID: 25162666
Sources: Expert Review
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 RET Treena Cranston reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28740527, PMID: 25162666; Phenotypes: MEN2A, MEN3/MEN2B; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 GCM2 Treena Cranston reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27745835, PMID: 29264504, PMID: 29199197; Phenotypes: hyperparathyroidism, hypoparathyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 MEN1 Treena Cranston reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: MEN1, familial isolated hyperparathyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1B Treena Cranston reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: MEN4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CASR Treena Cranston reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: familial isolated hyperparathyroidism, FHH1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDC73 Treena Cranston reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20052758, PMID: 28740527; Phenotypes: Familial isolated hyperparathyroidism, Hyperparathyroidism Jaw Tumour syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2C Ivone Leong Marked gene: CDKN2C as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2C Ivone Leong Gene: cdkn2c has been classified as Red List (Low Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Ivone Leong Marked gene: CDKN2B as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Red List (Low Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Ivone Leong Marked gene: CDKN2B as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Red List (Low Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1A Ivone Leong Marked gene: CDKN1A as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1A Ivone Leong Gene: cdkn1a has been classified as Red List (Low Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 RET Ivone Leong Marked gene: RET as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 RET Ivone Leong Gene: ret has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 MEN1 Ivone Leong Marked gene: MEN1 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 MEN1 Ivone Leong Gene: men1 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 GCM2 Ivone Leong Marked gene: GCM2 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 GCM2 Ivone Leong Gene: gcm2 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1B Ivone Leong Marked gene: CDKN1B as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1B Ivone Leong Gene: cdkn1b has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CASR Ivone Leong Marked gene: CASR as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CASR Ivone Leong Gene: casr has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDC73 Ivone Leong Marked gene: CDC73 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDC73 Ivone Leong Gene: cdc73 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 CDKN2C Ivone Leong reviewed gene: CDKN2C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 CDKN2B Ivone Leong reviewed gene: CDKN2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 CDKN1A Ivone Leong reviewed gene: CDKN1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 CDKN1A Ivone Leong Publications for gene: CDKN1A were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.9 CDKN2B Ivone Leong Publications for gene: CDKN2B were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.8 CDKN2C Ivone Leong Publications for gene: CDKN2C were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.7 CDKN2C Ivone Leong Phenotypes for gene: CDKN2C were changed from No OMIM number to No OMIM number; Multiple endocrine neoplasia 1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.6 CDKN2B Ivone Leong Phenotypes for gene: CDKN2B were changed from No OMIM number to No OMIM number; Multiple endocrine neoplasia 1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.5 CDKN1A Ivone Leong Phenotypes for gene: CDKN1A were changed from No OMIM number to No OMIM number; Multiple endocrine neoplasia 1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.4 GCM2 Ivone Leong Classified gene: GCM2 as Green List (high evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.4 GCM2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on below comment.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.4 GCM2 Ivone Leong Gene: gcm2 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.3 GCM2 Ivone Leong Publications for gene: GCM2 were set to 27745835; 29264504
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.2 GCM2 Ivone Leong reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.2 RET Ivone Leong Added comment: Comment on mode of pathogenicity: Variants in RET cause gain-of-function effects.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.2 RET Ivone Leong Mode of pathogenicity for gene: RET was changed from to Other
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 RET Ivone Leong commented on gene: RET
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 MEN1 Ivone Leong commented on gene: MEN1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN1B Ivone Leong commented on gene: CDKN1B
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CASR Ivone Leong commented on gene: CASR
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDC73 Ivone Leong commented on gene: CDC73
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 RET Ivone Leong gene: RET was added
gene: RET was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 MEN1 Ivone Leong gene: MEN1 was added
gene: MEN1 was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 (131100)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 GCM2 Ivone Leong gene: GCM2 was added
gene: GCM2 was added to Familial hyperparathyroidism. Sources: Radboud University Medical Center, Nijmegen,Literature
Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GCM2 were set to 27745835; 29264504
Phenotypes for gene: GCM2 were set to Hypoparathyroidism, familial isolated (146200); Hyperparathyroidism 4 (617343)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN2C Ivone Leong gene: CDKN2C was added
gene: CDKN2C was added to Familial hyperparathyroidism. Sources: UKGTN
Mode of inheritance for gene: CDKN2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN2C were set to No OMIM number
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN2B Ivone Leong gene: CDKN2B was added
gene: CDKN2B was added to Familial hyperparathyroidism. Sources: UKGTN
Mode of inheritance for gene: CDKN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN2B were set to No OMIM number
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN1B Ivone Leong gene: CDKN1B was added
gene: CDKN1B was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia, type IV (610755)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN1A Ivone Leong gene: CDKN1A was added
gene: CDKN1A was added to Familial hyperparathyroidism. Sources: UKGTN
Mode of inheritance for gene: CDKN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1A were set to No OMIM number
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDC73 Ivone Leong gene: CDC73 was added
gene: CDC73 was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC73 were set to 12434154; 15531515
Phenotypes for gene: CDC73 were set to Hyperparathyroidism, familial primary (145000); Hyperparathyroidism-jaw tumor syndrome (145001)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CASR Ivone Leong gene: CASR was added
gene: CASR was added to Familial hyperparathyroidism. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.0 Ellen McDonagh Added Panel Familial hyperparathyroidism
Set panel types to: GMS Rare Disease Virtual