Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
75 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.4 | AIRE | Ida Ertmanska Publications for gene: AIRE were set to 19393987; 27253668; 31905445; 35521792; 37993717; 37235056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE | Ida Ertmanska edited their review of gene: AIRE: Changed publications to: 11600535, 19393987, 27253668, 29129473, 31905445, 35521792, 37993717, 37235056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE |
Ida Ertmanska changed review comment from: MONOALLELIC REPORTS: PMID: 11600535 Cetani et al., 2001 Italian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Proband: 38yo female, diagnosed with idiopathic hypoparathyroidism at age 5 yrs; recurrent oral candidiasis since adolescence, enamel dysplasia. Affected individuals (either with hypothyroid autoimmune thyroiditis or APECED phenotype) were heterozygous for c.682G>T, p.(Gly228Trp) - variant not in gnomAD v4, Revel score = 0.74. Variant segregated with disease. Only the coding sequence of AIRE was investigated. PMID: 29129473 Abbott et al., 2017 17yo Caucasian man with type I diabetes (T1DM) onset at age 3; mother had rheumatoid arthritis; no hypoparathyroidism. Seq method: panel of 345 genes with known immunologic function; 6 candidate variants were identified, but c.739C>T, p.Arg247Cys was reported as diagnostic, also present in the mother. Variant is present in a heterozygous state in 48 individuals in gnomAD v4; Revel score = 0.45 (Uncertain). Anti-cytokine antibodies typically seen in APECED were absent. PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. BIALLELIC REPORTS: PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE (relatedness?). Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 35521792 Cranston et al., 2022 Biallelic AIRE variants identified in 35 probands with APS-1 and 5 probands with isolated hypoparathyroidism. Hypoparathyroidism was present in 87% of 40 mutation-positive individuals - most common symptom in this cohort. Selected cases: Proband 3: age 14, homozygous for c.44G>A, p.(Arg15His) in AIRE; presented with hypoparathyroidism, candidiasis, adrenal insufficiency, hypothyroidism. Proband 5: age of onset 9yo; compound het: c.242T>C, p.(Leu81Pro); 1265delC, p.(Pro422fs); symptoms: hypoparathyroidism, adrenal insufficiency, type 1 diabetes. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025).; to: MONOALLELIC REPORTS: PMID: 11600535 Cetani et al., 2001 Italian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Proband: 38yo female, diagnosed with idiopathic hypoparathyroidism at age 5 yrs; recurrent oral candidiasis since adolescence, enamel dysplasia. Affected individuals (either with hypothyroid autoimmune thyroiditis or APECED phenotype) were heterozygous for c.682G>T, p.(Gly228Trp) - variant not in gnomAD v4, Revel score = 0.74. Variant segregated with disease. Only the coding sequence of AIRE was investigated. PMID: 29129473 Abbott et al., 2017 17yo Caucasian man with type I diabetes (T1DM) onset at age 3; mother had rheumatoid arthritis; no hypoparathyroidism. Seq method: panel of 345 genes with known immunologic function; 6 candidate variants were identified, but c.739C>T, p.Arg247Cys was reported as diagnostic, also present in the mother. Variant is present in a heterozygous state in 48 individuals in gnomAD v4; Revel score = 0.45 (Uncertain). Anti-cytokine antibodies typically seen in APECED were absent. PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. BIALLELIC REPORTS: PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and hypoparathyroidism at age 5, and CMC at age 11. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE (relatedness?). Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 35521792 Cranston et al., 2022 Biallelic AIRE variants identified in 35 probands with APS-1 and 5 probands with isolated hypoparathyroidism. Hypoparathyroidism was present in 87% of 40 mutation-positive individuals - most common symptom in this cohort. Selected cases: Proband 3: age 14, homozygous for c.44G>A, p.(Arg15His) in AIRE; presented with hypoparathyroidism, candidiasis, adrenal insufficiency, hypothyroidism. Proband 5: age of onset 9yo; compound het: c.242T>C, p.(Leu81Pro); 1265delC, p.(Pro422fs); symptoms: hypoparathyroidism, adrenal insufficiency, type 1 diabetes. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE | Ida Ertmanska changed review comment from: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There are 2 unrelated families reported in literature with heterozygous AIRE variants and hypoparathyroidism;the variant did not segregate with disease in the family reported in PMID:37235056. There are numerous individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, with hypoparathyroidism being the most common symptom - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism, until more evidence emerges.; to: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There are 2 unrelated families reported in literature with heterozygous AIRE variants and hypoparathyroidism;the variant did not segregate with disease in the family reported in PMID:37235056. There are numerous individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, with hypoparathyroidism being the most common symptom - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism, until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE | Ida Ertmanska changed review comment from: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There are 2 unrelated families reported in literature with heterozygous AIRE variants and hypoparathyroidism;the variant did not segregate with disease in the family reported in PMID:37235056. There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism, until more evidence emerges.; to: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There are 2 unrelated families reported in literature with heterozygous AIRE variants and hypoparathyroidism;the variant did not segregate with disease in the family reported in PMID:37235056. There are numerous individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, with hypoparathyroidism being the most common symptom - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism, until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE |
Ida Ertmanska changed review comment from: MONOALLELIC REPORTS: PMID: 11600535 Cetani et al., 2001 Italian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Proband: 38yo female, diagnosed with idiopathic hypoparathyroidism at age 5 yrs; recurrent oral candidiasis since adolescence, enamel dysplasia. Affected individuals (either with hypothyroid autoimmune thyroiditis or APECED phenotype) were heterozygous for c.682G>T, p.(Gly228Trp) - variant not in gnomAD v4, Revel score = 0.74. Variant segregated with disease. Only the coding sequence of AIRE was investigated. PMID: 29129473 Abbott et al., 2017 17yo Caucasian man with type I diabetes (T1DM) onset at age 3; mother had rheumatoid arthritis; no hypoparathyroidism. Seq method: panel of 345 genes with known immunologic function; 6 candidate variants were identified, but c.739C>T, p.Arg247Cys was reported as diagnostic, also present in the mother. Variant is present in a heterozygous state in 48 individuals in gnomAD v4; Revel score = 0.45 (Uncertain). Anti-cytokine antibodies typically seen in APECED were absent. PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. BIALLELIC REPORTS: PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE (relatedness?). Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 31905445 Suh et al., 2019 10yo female Korean patient; compound het for c.1513delG (p.Ala505ProfsTer16) and c.1360dupC (p.His454ProfsTer50); presented with Primary adrenal insufficiency, Chronic mucocutaneous candidiasis (since 6 months of age), Dental enamel dysplasia, Hyperpigmentation. PMID: 35521792 Cranston et al., 2022 Patient 15: age 19 at time of report, compound het. variants c.769C>T, p.(Arg257Ter); c.967_979del13, p.(Leu323fs) in AIRE. Presented with hypoparathyroidism, nail dystrophy, enamel hypoplasia, alopecia, tubulointerstitial nephritis. Patient 19: onset at age 6, homozygous for c.967_979del13, p.(Leu323fs) - Mutation associated with uniparental isodisomy. Phenotype: hypoparathyroidism, enamel hypoplasia, and adrenal insufficiency. In this cohort, 7% of mutation positive individuals, and 3% of mutation negative probands, presented with enamel hypoplasia. Ethnic background not disclosed. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025).; to: MONOALLELIC REPORTS: PMID: 11600535 Cetani et al., 2001 Italian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Proband: 38yo female, diagnosed with idiopathic hypoparathyroidism at age 5 yrs; recurrent oral candidiasis since adolescence, enamel dysplasia. Affected individuals (either with hypothyroid autoimmune thyroiditis or APECED phenotype) were heterozygous for c.682G>T, p.(Gly228Trp) - variant not in gnomAD v4, Revel score = 0.74. Variant segregated with disease. Only the coding sequence of AIRE was investigated. PMID: 29129473 Abbott et al., 2017 17yo Caucasian man with type I diabetes (T1DM) onset at age 3; mother had rheumatoid arthritis; no hypoparathyroidism. Seq method: panel of 345 genes with known immunologic function; 6 candidate variants were identified, but c.739C>T, p.Arg247Cys was reported as diagnostic, also present in the mother. Variant is present in a heterozygous state in 48 individuals in gnomAD v4; Revel score = 0.45 (Uncertain). Anti-cytokine antibodies typically seen in APECED were absent. PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. BIALLELIC REPORTS: PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE (relatedness?). Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 35521792 Cranston et al., 2022 Biallelic AIRE variants identified in 35 probands with APS-1 and 5 probands with isolated hypoparathyroidism. Hypoparathyroidism was present in 87% of 40 mutation-positive individuals - most common symptom in this cohort. Selected cases: Proband 3: age 14, homozygous for c.44G>A, p.(Arg15His) in AIRE; presented with hypoparathyroidism, candidiasis, adrenal insufficiency, hypothyroidism. Proband 5: age of onset 9yo; compound het: c.242T>C, p.(Leu81Pro); 1265delC, p.(Pro422fs); symptoms: hypoparathyroidism, adrenal insufficiency, type 1 diabetes. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE | Ida Ertmanska changed review comment from: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There are 2 unrelated families reported in literature with heterozygous AIRE variants and hypoparathyroidism;the variant did not segregate with disease in the family reported in PMID:37235056. There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism.; to: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There are 2 unrelated families reported in literature with heterozygous AIRE variants and hypoparathyroidism;the variant did not segregate with disease in the family reported in PMID:37235056. There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism, until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE | Ida Ertmanska changed review comment from: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There is one individual reported in literature with a heterozygous AIRE variant and hypoparathyroidism, but the variant did not segregate with disease in the family (PMID: 37235056). There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism.; to: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There are 2 unrelated families reported in literature with heterozygous AIRE variants and hypoparathyroidism;the variant did not segregate with disease in the family reported in PMID:37235056. There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE |
Ida Ertmanska changed review comment from: MONOALLELIC REPORTS: PMID: 11600535 Cetani et al., 2001 Italian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Proband: 38yo female, diagnosed with idiopathic hypoparathyroidism at age 5 yrs; recurrent oral candidiasis since adolescence, enamel dysplasia. Affected individuals (either with hypothyroid autoimmune thyroiditis or APECED phenotype) were heterozygous for c.682G>T, p.(Gly228Trp) - variant not in gnomAD v4, Revel score = 0.74. Variant segregated with disease. Only the coding sequence of AIRE was investigated. PMID: 29129473 Abbott et al., 2017 17yo Caucasian man with type I diabetes (T1DM) onset at age 3; mother had rheumatoid arthritis; seq method: panel of 345 genes with known immunologic function; 6 candidate variants were identified, but c.739C>T, p.Arg247Cys was reported as diagnostic, also present in the mother. Variant is present in a heterozygous state in 48 individuals in gnomAD v4; Revel score = 0.45 (Uncertain). Anti-cytokine antibodies typically seen in APECED were absent. PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. BIALLELIC REPORTS: PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE (relatedness?). Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 31905445 Suh et al., 2019 10yo female Korean patient; compound het for c.1513delG (p.Ala505ProfsTer16) and c.1360dupC (p.His454ProfsTer50); presented with Primary adrenal insufficiency, Chronic mucocutaneous candidiasis (since 6 months of age), Dental enamel dysplasia, Hyperpigmentation. PMID: 35521792 Cranston et al., 2022 Patient 15: age 19 at time of report, compound het. variants c.769C>T, p.(Arg257Ter); c.967_979del13, p.(Leu323fs) in AIRE. Presented with hypoparathyroidism, nail dystrophy, enamel hypoplasia, alopecia, tubulointerstitial nephritis. Patient 19: onset at age 6, homozygous for c.967_979del13, p.(Leu323fs) - Mutation associated with uniparental isodisomy. Phenotype: hypoparathyroidism, enamel hypoplasia, and adrenal insufficiency. In this cohort, 7% of mutation positive individuals, and 3% of mutation negative probands, presented with enamel hypoplasia. Ethnic background not disclosed. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025).; to: MONOALLELIC REPORTS: PMID: 11600535 Cetani et al., 2001 Italian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Proband: 38yo female, diagnosed with idiopathic hypoparathyroidism at age 5 yrs; recurrent oral candidiasis since adolescence, enamel dysplasia. Affected individuals (either with hypothyroid autoimmune thyroiditis or APECED phenotype) were heterozygous for c.682G>T, p.(Gly228Trp) - variant not in gnomAD v4, Revel score = 0.74. Variant segregated with disease. Only the coding sequence of AIRE was investigated. PMID: 29129473 Abbott et al., 2017 17yo Caucasian man with type I diabetes (T1DM) onset at age 3; mother had rheumatoid arthritis; no hypoparathyroidism. Seq method: panel of 345 genes with known immunologic function; 6 candidate variants were identified, but c.739C>T, p.Arg247Cys was reported as diagnostic, also present in the mother. Variant is present in a heterozygous state in 48 individuals in gnomAD v4; Revel score = 0.45 (Uncertain). Anti-cytokine antibodies typically seen in APECED were absent. PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. BIALLELIC REPORTS: PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE (relatedness?). Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 31905445 Suh et al., 2019 10yo female Korean patient; compound het for c.1513delG (p.Ala505ProfsTer16) and c.1360dupC (p.His454ProfsTer50); presented with Primary adrenal insufficiency, Chronic mucocutaneous candidiasis (since 6 months of age), Dental enamel dysplasia, Hyperpigmentation. PMID: 35521792 Cranston et al., 2022 Patient 15: age 19 at time of report, compound het. variants c.769C>T, p.(Arg257Ter); c.967_979del13, p.(Leu323fs) in AIRE. Presented with hypoparathyroidism, nail dystrophy, enamel hypoplasia, alopecia, tubulointerstitial nephritis. Patient 19: onset at age 6, homozygous for c.967_979del13, p.(Leu323fs) - Mutation associated with uniparental isodisomy. Phenotype: hypoparathyroidism, enamel hypoplasia, and adrenal insufficiency. In this cohort, 7% of mutation positive individuals, and 3% of mutation negative probands, presented with enamel hypoplasia. Ethnic background not disclosed. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE |
Ida Ertmanska changed review comment from: PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE (relatedness?). Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 31905445 Suh et al., 2019 10yo female Korean patient; compound het for c.1513delG (p.Ala505ProfsTer16) and c.1360dupC (p.His454ProfsTer50); presented with Primary adrenal insufficiency, Chronic mucocutaneous candidiasis (since 6 months of age), Dental enamel dysplasia, Hyperpigmentation. PMID: 35521792 Cranston et al., 2022 Patient 15: age 19 at time of report, compound het. variants c.769C>T, p.(Arg257Ter); c.967_979del13, p.(Leu323fs) in AIRE. Presented with hypoparathyroidism, nail dystrophy, enamel hypoplasia, alopecia, tubulointerstitial nephritis. Patient 19: onset at age 6, homozygous for c.967_979del13, p.(Leu323fs) - Mutation associated with uniparental isodisomy. Phenotype: hypoparathyroidism, enamel hypoplasia, and adrenal insufficiency. In this cohort, 7% of mutation positive individuals, and 3% of mutation negative probands, presented with enamel hypoplasia. Ethnic background not disclosed. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025).; to: MONOALLELIC REPORTS: PMID: 11600535 Cetani et al., 2001 Italian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Proband: 38yo female, diagnosed with idiopathic hypoparathyroidism at age 5 yrs; recurrent oral candidiasis since adolescence, enamel dysplasia. Affected individuals (either with hypothyroid autoimmune thyroiditis or APECED phenotype) were heterozygous for c.682G>T, p.(Gly228Trp) - variant not in gnomAD v4, Revel score = 0.74. Variant segregated with disease. Only the coding sequence of AIRE was investigated. PMID: 29129473 Abbott et al., 2017 17yo Caucasian man with type I diabetes (T1DM) onset at age 3; mother had rheumatoid arthritis; seq method: panel of 345 genes with known immunologic function; 6 candidate variants were identified, but c.739C>T, p.Arg247Cys was reported as diagnostic, also present in the mother. Variant is present in a heterozygous state in 48 individuals in gnomAD v4; Revel score = 0.45 (Uncertain). Anti-cytokine antibodies typically seen in APECED were absent. PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. BIALLELIC REPORTS: PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE (relatedness?). Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 31905445 Suh et al., 2019 10yo female Korean patient; compound het for c.1513delG (p.Ala505ProfsTer16) and c.1360dupC (p.His454ProfsTer50); presented with Primary adrenal insufficiency, Chronic mucocutaneous candidiasis (since 6 months of age), Dental enamel dysplasia, Hyperpigmentation. PMID: 35521792 Cranston et al., 2022 Patient 15: age 19 at time of report, compound het. variants c.769C>T, p.(Arg257Ter); c.967_979del13, p.(Leu323fs) in AIRE. Presented with hypoparathyroidism, nail dystrophy, enamel hypoplasia, alopecia, tubulointerstitial nephritis. Patient 19: onset at age 6, homozygous for c.967_979del13, p.(Leu323fs) - Mutation associated with uniparental isodisomy. Phenotype: hypoparathyroidism, enamel hypoplasia, and adrenal insufficiency. In this cohort, 7% of mutation positive individuals, and 3% of mutation negative probands, presented with enamel hypoplasia. Ethnic background not disclosed. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE |
Ida Ertmanska changed review comment from: PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE. Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 31905445 Suh et al., 2019 10yo female Korean patient; compound het for c.1513delG (p.Ala505ProfsTer16) and c.1360dupC (p.His454ProfsTer50); presented with Primary adrenal insufficiency, Chronic mucocutaneous candidiasis (since 6 months of age), Dental enamel dysplasia, Hyperpigmentation. PMID: 35521792 Cranston et al., 2022 Patient 15: age 19 at time of report, compound het. variants c.769C>T, p.(Arg257Ter); c.967_979del13, p.(Leu323fs) in AIRE. Presented with hypoparathyroidism, nail dystrophy, enamel hypoplasia, alopecia, tubulointerstitial nephritis. Patient 19: onset at age 6, homozygous for c.967_979del13, p.(Leu323fs) - Mutation associated with uniparental isodisomy. Phenotype: hypoparathyroidism, enamel hypoplasia, and adrenal insufficiency. In this cohort, 7% of mutation positive individuals, and 3% of mutation negative probands, presented with enamel hypoplasia. Ethnic background not disclosed. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025).; to: PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE (relatedness?). Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 31905445 Suh et al., 2019 10yo female Korean patient; compound het for c.1513delG (p.Ala505ProfsTer16) and c.1360dupC (p.His454ProfsTer50); presented with Primary adrenal insufficiency, Chronic mucocutaneous candidiasis (since 6 months of age), Dental enamel dysplasia, Hyperpigmentation. PMID: 35521792 Cranston et al., 2022 Patient 15: age 19 at time of report, compound het. variants c.769C>T, p.(Arg257Ter); c.967_979del13, p.(Leu323fs) in AIRE. Presented with hypoparathyroidism, nail dystrophy, enamel hypoplasia, alopecia, tubulointerstitial nephritis. Patient 19: onset at age 6, homozygous for c.967_979del13, p.(Leu323fs) - Mutation associated with uniparental isodisomy. Phenotype: hypoparathyroidism, enamel hypoplasia, and adrenal insufficiency. In this cohort, 7% of mutation positive individuals, and 3% of mutation negative probands, presented with enamel hypoplasia. Ethnic background not disclosed. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE | Ida Ertmanska changed review comment from: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There is one individual reported in literature with a heterozygous AIRE variant and hypoparathyroidism, but the variant did not segregate with disease in the family (PMID: 37235056). There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism.; to: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There is one individual reported in literature with a heterozygous AIRE variant and hypoparathyroidism, but the variant did not segregate with disease in the family (PMID: 37235056). There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE | Ida Ertmanska changed review comment from: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with APS-1, they result in an incompletely penetrant, milder phenotype. There is one individual reported in literature with a heterozygous AIRE variant and hypoparathyroidism, but the variant did not segregate with disease in the family (PMID: 37235056). There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism.; to: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with Autoimmune polyendocrinopathy syndrome, type I (APS-1), they result in an incompletely penetrant, milder phenotype. There is one individual reported in literature with a heterozygous AIRE variant and hypoparathyroidism, but the variant did not segregate with disease in the family (PMID: 37235056). There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.3 | AIRE | Ida Ertmanska Publications for gene: AIRE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.2 | AIRE | Ida Ertmanska Tag Q4_25_MOI tag was added to gene: AIRE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.2 | AIRE |
Ida Ertmanska changed review comment from: PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE. Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. Of 25 patients examined by a dentist, 18 presented with enamel hypoplasia (72%), onset mostly in adolescence. PMID: 31905445 Suh et al., 2019 10yo female Korean patient; compound het for c.1513delG (p.Ala505ProfsTer16) and c.1360dupC (p.His454ProfsTer50); presented with Primary adrenal insufficiency, Chronic mucocutaneous candidiasis (since 6 months of age), Dental enamel dysplasia, Hyperpigmentation. PMID: 35521792 Cranston et al., 2022 Patient 15: age 19 at time of report, compound het. variants c.769C>T, p.(Arg257Ter); c.967_979del13, p.(Leu323fs) in AIRE. Presented with hypoparathyroidism, nail dystrophy, enamel hypoplasia, alopecia, tubulointerstitial nephritis. Patient 19: onset at age 6, homozygous for c.967_979del13, p.(Leu323fs) - Mutation associated with uniparental isodisomy. Phenotype: hypoparathyroidism, enamel hypoplasia, and adrenal insufficiency. In this cohort, 7% of mutation positive individuals, and 3% of mutation negative probands, presented with enamel hypoplasia. Ethnic background not disclosed. Functional evidence: PMID: 37993717 Gruper et al., 2023 Enamel defects similar to APS1 presentation develop in 20-50% of children with coeliac disease. Study shows that both APS1 and coeliac disease patients develop autoantibodies (mostly IgA isotype) against ameloblast specific proteins, leading to defects in enamel formation. AIRE-deficient (-/-) mice have defective enamel formation; the KO mice showed autoreactivity to ameloblast antigens (slot-blot immunoassay). AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025).; to: PMID: 37235056 Oftedal et al., 2023 11 unrelated patients with heterozygous AIRE mutations. Family IV - Greek - individual II-1 presented with hypoparathyroidism, Positive AAbs against IFN-ω; heterozygous for c.916G>A, p.G306R. Mother and uncle carried the same variant in AIRE, but were unaffected. The other 10 probands reported did not present with hypoparathyroidism. PMID 19393987 Pavlic and Waltimo-Sirén, 2009 Patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS 1). Family 1 - female patient A, 9yo, oldest child of three siblings - compound heterozygote with R257X / 653-7_-5delCTC mutations in AIRE. Presented with hypoplastic enamel, hypoparathyroidism (HPT), hypoadrenocorticism, and chronic mucocutaneous candidiasis (CMC). Siblings asymptomatic, not genotyped. Family 2 - female proband (patient B) with APECED harboured compound het mutations in AIRE: p.Arg257Ter; p.Thr16Met. Unaffected family members were either carriers or WT. Similarly affected brother (patient C), who harboured the same variants in AIRE. Patient B presented with ectodermal dystrophy and HPT at age 5, and CMC at age 11. Panoramic tomogram at age 11 showed markedly thin and uneven enamel; premolars erupted with discoloured and hypoplastic enamel; she needed prosthetic crowns for her premolars before age 15; moderate to severe tooth sensitivity. PMID: 27253668 Bruserud et al., 2016 Report of fifty-two patients from 34 Norwegian families with biallelic variants in AIRE. Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. 38/52 patients presented with hypoparathyroidism (73%), and it was the initial presenting symptom in 17 patients in the cohort. PMID: 31905445 Suh et al., 2019 10yo female Korean patient; compound het for c.1513delG (p.Ala505ProfsTer16) and c.1360dupC (p.His454ProfsTer50); presented with Primary adrenal insufficiency, Chronic mucocutaneous candidiasis (since 6 months of age), Dental enamel dysplasia, Hyperpigmentation. PMID: 35521792 Cranston et al., 2022 Patient 15: age 19 at time of report, compound het. variants c.769C>T, p.(Arg257Ter); c.967_979del13, p.(Leu323fs) in AIRE. Presented with hypoparathyroidism, nail dystrophy, enamel hypoplasia, alopecia, tubulointerstitial nephritis. Patient 19: onset at age 6, homozygous for c.967_979del13, p.(Leu323fs) - Mutation associated with uniparental isodisomy. Phenotype: hypoparathyroidism, enamel hypoplasia, and adrenal insufficiency. In this cohort, 7% of mutation positive individuals, and 3% of mutation negative probands, presented with enamel hypoplasia. Ethnic background not disclosed. AIRE is linked to AR & AD Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (OMIM, accessed 5th Nov 2025). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.2 | AIRE | Ida Ertmanska commented on gene: AIRE: Comment on mode of inheritance: While monoallelic variants in AIRE have been associated with APS-1, they result in an incompletely penetrant, milder phenotype. There is one individual reported in literature with a heterozygous AIRE variant and hypoparathyroidism, but the variant did not segregate with disease in the family (PMID: 37235056). There are at least 4 unrelated individuals reported with biallelic variants in AIRE with Autoimmune polyendocrinopathy syndrome type 1, including hypoparathyroidism - heterozygous family members reported as unaffected (PMIDs: 19393987; 27253668; 35521792). Based on the available evidence, the MOI should be set to BIALLELIC, autosomal or pseudoautosomal for Familial hypoparathyroidism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.2 | AIRE | Ida Ertmanska reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 19393987, 27253668, 31905445, 35521792, 37993717, 37235056; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300, autoimmune polyendocrine syndrome type 1, MONDO:0009411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.2 | AIRE | Ida Ertmanska Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300; autoimmune polyendocrine syndrome type 1, MONDO:0009411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.1 | Sarah Leigh Panel version 3.0 has been signed off on 2025-04-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v3.0 | Sarah Leigh promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.18 | STX16 |
Eleanor Williams changed review comment from: The rating of this gene has was initially changed to green (but not in the signed off version of the panel) but after further review it has been decided to keep it as amber. GLH review notes: STX16 deletions are associated with pseudohypoparathroidism (1b). Clinically this means hypocalcaemia but PTH levels are elevated – which is the normal response to low serum calcium (hence the pseudo and indicating defective response to PTH levels rather than defective PTH production as in hypoparathyroidism ). R153 Familial hypoparathyroidism testing criteria are: Non-syndromic hypoparathyroidism with low calcium levels and low or inappropriately normal serum PTH, with no detectable cause. Clinically R153 requires hypocalcaemia and low PTH levels (/ inappropriately normal in ADH) due to defective PTH production in the main) - so patients with STX16 wont clinically fulfil R153 test criteria. following NHS Genomic Medicine Service approval.; to: The rating of this gene has was initially changed to green (but not in the signed off version of the panel) but after further review it has been decided to keep it as amber (see review by Treena Cranston) . The clinical phenotype of pseudohypoparathroidism 1b does not fit with the testing criteria of the panel: R153 requires hypocalcaemia and low PTH levels (/ inappropriately normal in ADH) due to defective PTH production in the main) - so patients with STX16 wont clinically fulfil R153 test criteria. Therefore this gene remains amber following NHS Genomic Medicine Service review. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.18 | STX16 | Eleanor Williams edited their review of gene: STX16: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.18 | STX16 |
Eleanor Williams changed review comment from: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; to: The rating of this gene has was initially changed to green (but not in the signed off version of the panel) but after further review it has been decided to keep it as amber. GLH review notes: STX16 deletions are associated with pseudohypoparathroidism (1b). Clinically this means hypocalcaemia but PTH levels are elevated – which is the normal response to low serum calcium (hence the pseudo and indicating defective response to PTH levels rather than defective PTH production as in hypoparathyroidism ). R153 Familial hypoparathyroidism testing criteria are: Non-syndromic hypoparathyroidism with low calcium levels and low or inappropriately normal serum PTH, with no detectable cause. Clinically R153 requires hypocalcaemia and low PTH levels (/ inappropriately normal in ADH) due to defective PTH production in the main) - so patients with STX16 wont clinically fulfil R153 test criteria. following NHS Genomic Medicine Service approval. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.18 | STX16 | Achchuthan Shanmugasundram Classified gene: STX16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.18 | STX16 | Achchuthan Shanmugasundram Gene: stx16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.17 | STX16 | Treena Cranston reviewed gene: STX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.17 | TBX1 | Eleanor Williams Tag Q1_23_promote_green was removed from gene: TBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.17 | STX16 | Eleanor Williams Tag Q4_22_promote_green was removed from gene: STX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.17 | TBX1 | Eleanor Williams reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.17 | STX16 | Eleanor Williams reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.16 | TBX1 |
Eleanor Williams Source Expert Review Green was added to TBX1. Source NHS GMS was added to TBX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.16 | STX16 |
Eleanor Williams Source Expert Review Green was added to STX16. Source NHS GMS was added to STX16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.15 | STX16 | Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: STX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.15 | Ivone Leong Panel version 2.14 has been signed off on 2024-05-01 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.10 | TBX1 | Arina Puzriakova Classified gene: TBX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.10 | TBX1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green on this panel (at least three cases of parathyroid dysfunction, including a patient with isolated hypoparathyroidism) at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.10 | TBX1 | Arina Puzriakova Gene: tbx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.9 | TBX1 | Arina Puzriakova Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome, OMIM:188400; Conotruncal anomaly face syndrome, OMIM:217095; Velocardiofacial syndrome, OMIM:192430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.8 | TBX1 | Arina Puzriakova Publications for gene: TBX1 were set to 30137364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | TBX1 | Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: TBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | TBX1 | Arina Puzriakova reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14585638, 17273972, 30137364; Phenotypes: DiGeorge syndrome, OMIM:188400, Conotruncal anomaly face syndrome, OMIM:217095, Velocardiofacial syndrome, OMIM:192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | STX16 | Sarah Leigh commented on gene: STX16: When the copy number coordinates have been established by ClinGen for STX16, this information will be added to the Familial hypoparathyroidism panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | STX16 |
Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: STX16. Tag cnv tag was added to gene: STX16. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | STX16 |
Sarah Leigh Tag Q4_22_MOI tag was added to gene: STX16. Tag Q4_22_promote_green tag was added to gene: STX16. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | STX16 | Sarah Leigh edited their review of gene: STX16: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | STX16 | Sarah Leigh Classified gene: STX16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | STX16 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.7 | STX16 | Sarah Leigh Gene: stx16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.6 | STX16 | Sarah Leigh Entity copied from Genomic imprinting v0.147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.6 | STX16 |
Sarah Leigh gene: STX16 was added gene: STX16 was added to Familial hypoparathyroidism. Sources: Literature Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648; 35119251 Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB OMIM:603233; pseudohypoparathyroidism type 1B:MONDO:0011301 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.5 | SOX3 | Arina Puzriakova Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.4 | Ivone Leong Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.3 | Ivone Leong Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.14 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.13 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.12 | Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.11 |
Ivone Leong List of related panels changed from Familial or syndromic hypoparathyroidism to Familial or syndromic hypoparathyroidism; R153 Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | TBCE | Ivone Leong commented on gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | PTH | Ivone Leong commented on gene: PTH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | GNA11 | Ivone Leong commented on gene: GNA11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | GCM2 | Ivone Leong commented on gene: GCM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | GATA3 | Ivone Leong commented on gene: GATA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | CASR | Ivone Leong commented on gene: CASR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | AIRE | Ivone Leong commented on gene: AIRE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | TBX1 | Ivone Leong Classified gene: TBX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | TBX1 | Ivone Leong Added comment: Comment on list classification: PMID: 30137364 reports on 2 unrelated families who have hypoparathyroidism and have splice variants in the TBX1 gene that leads to exon skipping. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.10 | TBX1 | Ivone Leong Gene: tbx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.9 | TBX1 | Ivone Leong Publications for gene: TBX1 were set to PMID: 30137364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.8 | TBCE | Treena Cranston reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.8 | TBX1 |
Treena Cranston gene: TBX1 was added gene: TBX1 was added to Familial hypoparathyroidism. Sources: Other Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX1 were set to PMID: 30137364 Penetrance for gene: TBX1 were set to unknown Review for gene: TBX1 was set to RED Added comment: Red evidence to date but recent publication of this gene (PMID: 30137364) showing association with isolated hypoparathyroidism. Too early for diagnostic panels but of interest for research, so flagging for future consideration Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.7 |
Ellen McDonagh Panel name changed from Familial or syndromic hypoparathyroidism to Familial hypoparathyroidism List of related panels changed from to Familial or syndromic hypoparathyroidism Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism | TBCE | Helen Brittain classified TBCE as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism | TBCE | Helen Brittain reviewed TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||