| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperthyroidism v0.23 | TRU-TCA1-1 | Zornitza Stark Marked gene: TRU-TCA1-1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.23 | TRU-TCA1-1 | Zornitza Stark Gene: tru-tca1-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.23 | TRU-TCA1-1 | Zornitza Stark Phenotypes for gene: TRU-TCA1-1 were changed from Hyperthyroidism MONDO:0004425 to Inherited thyroid metabolism disease, MONDO:0045046, TRU-TCA1-1 related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.22 | TRU-TCA1-1 | Zornitza Stark Classified gene: TRU-TCA1-1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.22 | TRU-TCA1-1 | Zornitza Stark Gene: tru-tca1-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.21 | TRU-TCA1-1 |
Paul De Fazio gene: TRU-TCA1-1 was added gene: TRU-TCA1-1 was added to Hyperthyroidism. Sources: Literature Mode of inheritance for gene: TRU-TCA1-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRU-TCA1-1 were set to 26854926; 34956927 Phenotypes for gene: TRU-TCA1-1 were set to Hyperthyroidism MONDO:0004425 Review for gene: TRU-TCA1-1 was set to AMBER gene: TRU-TCA1-1 was marked as current diagnostic Added comment: PMID 26854926: male 8 year old proband investigated for abdominal pain, fatigue, muscle weakness, and thyroid dysfunction (raised T4, normal T3, raised reverse T3) suggestive of impaired deiodinase activity in combination with low plasma selenium levels. Homozygosity mapping led to identification of a a single nucleotide change, C65G, in TRU-TCA1-1, a tRNA in the selenocysteine incorporation pathway. This mutation resulted in reduction in expression of stress-related selenoproteins. A methylribosylation defect at uridine 34 of mutant tRNA observed in patient cells was restored by cellular complementation with normal tRNA. PMID 34956927: a 10 year old originally investigated for Hashimoto's disease was found to be homozygous for the same C65G variant identified in the previous paper, inherited from the father in what was concluded to be paternal isodisomy. Sources: Literature |
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| Hyperthyroidism v0.21 | Zornitza Stark HPO terms changed from to Hyperthyroidism HP:0000836 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.20 | Zornitza Stark List of related panels changed from to Hyperthyroidism HP:0000836 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.19 | Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.18 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.17 | TSHR | Zornitza Stark Marked gene: TSHR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.17 | TSHR | Zornitza Stark Gene: tshr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.17 | TSHR | Zornitza Stark Phenotypes for gene: TSHR were changed from Hyperthyroidism, nonautoimmune, 609152; Congenital, nonautoimmune hyperthyroidism to Hyperthyroidism, nonautoimmune, MIM# 609152 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.16 | TSHR | Zornitza Stark Publications for gene: TSHR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.15 | TSHR | Zornitza Stark Mode of inheritance for gene: TSHR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.14 | TSHR | Zornitza Stark reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7920658, 7800007, 8964822; Phenotypes: Hyperthyroidism, nonautoimmune, MIM# 609152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.14 | THRA | Zornitza Stark Marked gene: THRA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.14 | THRA | Zornitza Stark Added comment: Comment when marking as ready: Included in this panel as TFTs potentially suggestive of hyperthyroidism – elevated T3, non-suppressed TSH, even though the associated condition is hypothyroidism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.14 | THRA | Zornitza Stark Gene: thra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.14 | SLC16A2 | Zornitza Stark Marked gene: SLC16A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.14 | SLC16A2 | Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.14 | SLC16A2 | Zornitza Stark Phenotypes for gene: SLC16A2 were changed from MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; mental retardation, X-linked, with hypotonia; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON SYNDROME; T3 RESISTANCE; AHDS; ALLAN-HERNDON-DUDLEY SYNDROME; MENTAL RETARDATION AND MUSCULAR ATROPHY; Monocarboxylate transporter 8 (MCT8) defect; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan_Herndon_Dudley Syndrome to Allan-Herndon-Dudley syndrome, MIM# 300523 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.13 | SLC16A2 | Zornitza Stark Publications for gene: SLC16A2 were set to 24847459 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.12 | THRA | Zornitza Stark Marked gene: THRA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.12 | THRA | Zornitza Stark Gene: thra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.12 | THRA | Zornitza Stark Phenotypes for gene: THRA were changed from Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa); Hypothyroidism, congenital, nongoitrous, 6, 614450; congenital nongoitrous hypothyroidism 6; RTH alpha; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; Resistance to thyroid hormone alpha; CHNG6 to Hypothyroidism, congenital, nongoitrous, 6 614450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.11 | THRA | Zornitza Stark Mode of pathogenicity for gene: THRA was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.10 | SECISBP2 | Zornitza Stark Marked gene: SECISBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.10 | SECISBP2 | Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.10 | SECISBP2 | Zornitza Stark Phenotypes for gene: SECISBP2 were changed from Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Thyroid hormone metabolism, abnormal, 609698; Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THYROID HORMONE METABOLISM, ABNORMAL; Abnormal thyroid hormone metabolism to Thyroid hormone metabolism, abnormal, MIM# 609698 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.9 | SECISBP2 | Zornitza Stark Publications for gene: SECISBP2 were set to 22986150; 24629861; 19602558; 22247018; 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 21084748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.8 | SECISBP2 | Anna Le Fevre reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16228000, 19602558, 21084748, 22247018; Phenotypes: #609698 THYROID HORMONE METABOLISM, ABNORMAL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.8 | SLC16A2 | Anna Le Fevre reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25517855, 21098685, 31410843; Phenotypes: #300523 ALLAN-HERNDON-DUDLEY SYNDROME; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.8 | THRB | Zornitza Stark Marked gene: THRB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.8 | THRB | Zornitza Stark Gene: thrb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.8 | THRB | Zornitza Stark Phenotypes for gene: THRB were changed from Thyroid Hormone Resistance, Selective Pituitary; 145650; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; thyroid hormone unresponsiveness, generalized RTH, RTH beta; THYROID HORMONE UNRESPONSIVENESS; REFETOFF SYNDROME; Refetoff syndrome; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; PRTH; Thyroid hormone resistance, selective pituitary, 145650; GRTH; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Resistance to thyroid hormone (RTH); Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance (monoallelic); HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES to Thyroid hormone resistance, MIM# 188570; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, selective pituitary, MIM# 145650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.7 | THRB | Zornitza Stark Publications for gene: THRB were set to 24847459 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.6 | THRB | Zornitza Stark Mode of pathogenicity for gene: THRB was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.5 | THRB | Zornitza Stark Mode of inheritance for gene: THRB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.4 | THRA | Anna Le Fevre reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25135573, 27381958, 24847459, 27144938; Phenotypes: #190120 THYROID HORMONE RECEPTOR, ALPHA-1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.4 | THRB |
Anna Le Fevre changed review comment from: Monoallelic variants in THRB can cause a dominant negative effect as the altered receptor inhibits the function of the wild-type thyroid hormone receptor (THR) β. This can lead to elevated thyroid hormone signaling through THRα receptors. Diagnosis of this familial euthyroid hyperthyroxinemia is important to avoid unnecessary medical or surgical treatment and may impact on pregnancy management. Different variants can have varying effects on THRβ function and THRβ expression varies among organs, which is thought to make the genotype and phenotype relationship unclear. There is overlap between the previously subcategorised peripheral, isolated pituitary and generalised phenotypes. Biallelic variants cause a more severe phenotype including hearing impairment (consider adding THRB to hearing loss panel). A speculated mechanism in this condition is dominant-negative effect of mutant THRβ on wild-type THRα.; to: Monoallelic variants in THRB can cause a dominant negative effect due to an altered thyroid hormone receptor (THR) β inhibiting the function of the wild-type THRβ. This can lead to elevated thyroid hormone signaling through THRα receptors. Diagnosis of this familial euthyroid hyperthyroxinemia is important to avoid unnecessary medical or surgical treatment and may impact on pregnancy management. Different variants can have varying effects on THRβ function and THRβ expression varies among organs, which is thought to make the genotype and phenotype relationship unclear. There is overlap between the previously subcategorised peripheral, isolated pituitary and generalised phenotypes. Biallelic variants cause a more severe phenotype including hearing impairment (consider adding THRB to hearing loss panel). A speculated mechanism in this condition is dominant-negative effect of mutant THRβ on wild-type THRα. |
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| Hyperthyroidism v0.4 | THRB | Anna Le Fevre reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25135573, 31590893; Phenotypes: #188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT, #274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE, #145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.4 | TTR | Zornitza Stark Marked gene: TTR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.4 | TTR | Zornitza Stark Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.4 | TTR | Zornitza Stark Publications for gene: TTR were set to 31590893; 26522458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | ALB |
Anna Le Fevre edited their review of gene: ALB: Added comment: Gain of function mechanism. Specific variants in ALB cause increased binding affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment. Allelic conditions: #616000 ANALBUMINEMIA; ANALBA Biallelic loss of function variants cause very low amounts of circulating serum albumin.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Hyperthyroidism v0.3 | ALB | Zornitza Stark reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial dysalbuminaemic hyperthyroxinaemia, [Dysalbuminemic hyperthyroxinemia], 615999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | TTR | Anna Le Fevre reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31590893, 26522458, 8784093; Phenotypes: # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC, DTTRH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | ALB | Anna Le Fevre Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | ALB |
Anna Le Fevre changed review comment from: Gain-of-function mechanism. Individuals with FDH-T4 or FDH-T3 present with altered thyroid function tests, but they are clinically euthyroid. Therefore, early identification of the syndromes is important to avoid unnecessary medical or surgical treatment. Both are dominantly inherited conditions caused by missense variants of ALB with increased affinity for thyroid hormones. The allelic condition Analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin and is caused by biallelic loss of function variants.; to: Gain-of-function mechanism. Individuals with FDH-T4 or FDH-T3 present with altered thyroid function tests, but they are clinically euthyroid. Therefore, early identification of the syndromes is important to avoid unnecessary medical or surgical treatment. Both are dominantly inherited conditions caused by missense variants of ALB with increased affinity for thyroid hormones. The allelic condition Analbuminemia (ANALBUMINEMIA; ANALBA OMIM#616000) is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin and is caused by biallelic loss of function variants. |
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| Hyperthyroidism v0.3 | ALB | Zornitza Stark Marked gene: ALB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | ALB | Zornitza Stark Gene: alb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | ALB | Zornitza Stark Publications for gene: ALB were set to 29163366; 24646103; 8064810; 27834068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.2 | ALB | Zornitza Stark Mode of pathogenicity for gene: ALB was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.1 | ALB | Anna Le Fevre edited their review of gene: ALB: Changed publications: PMID: 29163366, 32635414 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.1 | ALB | Anna Le Fevre reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29163366; Phenotypes: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC, FDAH (OMIM#615999); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.1 | Zornitza Stark Panel types changed to Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.0 | TTR |
Zornitza Stark gene: TTR was added gene: TTR was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TTR were set to 31590893; 26522458 Phenotypes for gene: TTR were set to DTTRH; [Dystransthyretinemic hyperthyroxinemia], 145680 Mode of pathogenicity for gene: TTR was set to Other |
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| Hyperthyroidism v0.0 | TSHR |
Zornitza Stark gene: TSHR was added gene: TSHR was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: TSHR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune, 609152; Congenital, nonautoimmune hyperthyroidism |
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| Hyperthyroidism v0.0 | THRB |
Zornitza Stark gene: THRB was added gene: THRB was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: THRB were set to 24847459 Phenotypes for gene: THRB were set to Thyroid Hormone Resistance, Selective Pituitary; 145650; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; thyroid hormone unresponsiveness, generalized RTH, RTH beta; THYROID HORMONE UNRESPONSIVENESS; REFETOFF SYNDROME; Refetoff syndrome; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; PRTH; Thyroid hormone resistance, selective pituitary, 145650; GRTH; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Resistance to thyroid hormone (RTH); Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance (monoallelic); HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES |
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| Hyperthyroidism v0.0 | THRA |
Zornitza Stark gene: THRA was added gene: THRA was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THRA were set to 24847459; 27144938; 22168587; 23940126; 2567082; 22494134; 27381958 Phenotypes for gene: THRA were set to Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa); Hypothyroidism, congenital, nongoitrous, 6, 614450; congenital nongoitrous hypothyroidism 6; RTH alpha; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; Resistance to thyroid hormone alpha; CHNG6 |
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| Hyperthyroidism v0.0 | SLC16A2 |
Zornitza Stark gene: SLC16A2 was added gene: SLC16A2 was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 24847459 Phenotypes for gene: SLC16A2 were set to MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; mental retardation, X-linked, with hypotonia; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON SYNDROME; T3 RESISTANCE; AHDS; ALLAN-HERNDON-DUDLEY SYNDROME; MENTAL RETARDATION AND MUSCULAR ATROPHY; Monocarboxylate transporter 8 (MCT8) defect; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan_Herndon_Dudley Syndrome |
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| Hyperthyroidism v0.0 | SECISBP2 |
Zornitza Stark gene: SECISBP2 was added gene: SECISBP2 was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SECISBP2 were set to 22986150; 24629861; 19602558; 22247018; 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 21084748 Phenotypes for gene: SECISBP2 were set to Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Thyroid hormone metabolism, abnormal, 609698; Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THYROID HORMONE METABOLISM, ABNORMAL; Abnormal thyroid hormone metabolism |
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| Hyperthyroidism v0.0 | ALB |
Zornitza Stark gene: ALB was added gene: ALB was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ALB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALB were set to 29163366; 24646103; 8064810; 27834068 Phenotypes for gene: ALB were set to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999 |
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| Hyperthyroidism v0.0 | Zornitza Stark Added panel Hyperthyroidism | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||