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Congenital hypothyroidism v0.121 FOXA2 Chirag Patel Marked gene: FOXA2 as ready
Congenital hypothyroidism v0.121 FOXA2 Chirag Patel Gene: foxa2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.121 Chirag Patel Copied gene FOXA2 from panel Pituitary hormone deficiency
Congenital hypothyroidism v0.121 FOXA2 Chirag Patel gene: FOXA2 was added
gene: FOXA2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXA2 were set to 28973288, 29329447, 30414530, 33729509, 31294511, 33999151
Phenotypes for gene: FOXA2 were set to Hypopituitarism, MONDO:0005152; Hyperinsulinism, MONDO:0002177
Congenital hypothyroidism v0.120 IYD Chirag Patel Phenotypes for gene: IYD were changed from Thyroid dyshormonogenesis 4, MIM# 274800 to Thyroid dyshormonogenesis 4, MIM# 274800
Congenital hypothyroidism v0.119 IYD Chirag Patel Phenotypes for gene: IYD were changed from childhood/adolescent onset hypothyroidism; Thyroid dyshormonogenesis 4, 274800; normal iodide organification; Congenital hypothyroidism; raised urinary MIT and DIT; goitre to Thyroid dyshormonogenesis 4, MIM# 274800
Congenital hypothyroidism v0.118 IYD Chirag Patel Mode of inheritance for gene: IYD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.117 IYD Chirag Patel Marked gene: IYD as ready
Congenital hypothyroidism v0.117 IYD Chirag Patel Gene: iyd has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.117 IYD Chirag Patel reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 39106437, 36633921; Phenotypes: Thyroid dyshormonogenesis 4, MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.117 ZBTB26 Chirag Patel Marked gene: ZBTB26 as ready
Congenital hypothyroidism v0.117 ZBTB26 Chirag Patel Gene: zbtb26 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.117 ZBTB26 Chirag Patel Classified gene: ZBTB26 as Green List (high evidence)
Congenital hypothyroidism v0.117 ZBTB26 Chirag Patel Gene: zbtb26 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.116 ZBTB26 Chirag Patel gene: ZBTB26 was added
gene: ZBTB26 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: ZBTB26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB26 were set to 34946811
Phenotypes for gene: ZBTB26 were set to Congenital hypothyroidism MONDO:0018612
Review for gene: ZBTB26 was set to GREEN
Added comment: PMID 34946811 reports 3 individuals from 3 unrelated families with heterozygous ZBTB26 variants (2 x missense and 1 x splice‑proximal) presenting with congenital primary hypothyroidism. De novo status confirmed for 1 patient but parental status unavailable for 2 patients. Xenopus loss‑of‑function studies recapitulated the phenotype and were rescued by wild‑type mRNA, supporting a loss‑of‑function mechanism.
Sources: Literature
Congenital hypothyroidism v0.115 UBR7 Chirag Patel Marked gene: UBR7 as ready
Congenital hypothyroidism v0.115 UBR7 Chirag Patel Gene: ubr7 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.115 Chirag Patel Copied gene UBR7 from panel Mendeliome
Congenital hypothyroidism v0.115 UBR7 Chirag Patel gene: UBR7 was added
gene: UBR7 was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Congenital hypothyroidism v0.114 TANGO2 Chirag Patel Marked gene: TANGO2 as ready
Congenital hypothyroidism v0.114 TANGO2 Chirag Patel Gene: tango2 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.114 TANGO2 Chirag Patel Publications for gene: TANGO2 were set to 26805782; 30245509
Congenital hypothyroidism v0.113 TANGO2 Chirag Patel Deleted their comment
Congenital hypothyroidism v0.113 TANGO2 Chirag Patel edited their review of gene: TANGO2: Added comment: hypothyroidism noted in 12/20 (PMID: 32929747) and 31/65 (PMID: 36473599) patients but unclear of age of onset.; Changed rating: AMBER; Changed publications: 36473599 32929747
Congenital hypothyroidism v0.113 TANGO2 Chirag Patel Classified gene: TANGO2 as Amber List (moderate evidence)
Congenital hypothyroidism v0.113 TANGO2 Chirag Patel Gene: tango2 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.112 TANGO2 Chirag Patel Classified gene: TANGO2 as Red List (low evidence)
Congenital hypothyroidism v0.112 TANGO2 Chirag Patel Gene: tango2 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.111 TANGO2 Chirag Patel reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: None; Publications: 36473599, 32929747; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.111 Chirag Patel Copied gene TANGO2 from panel Mendeliome
Congenital hypothyroidism v0.111 TANGO2 Chirag Patel gene: TANGO2 was added
gene: TANGO2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 30245509
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Congenital hypothyroidism v0.110 SGPL1 Chirag Patel Marked gene: SGPL1 as ready
Congenital hypothyroidism v0.110 SGPL1 Chirag Patel Gene: sgpl1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.110 SGPL1 Chirag Patel Publications for gene: SGPL1 were set to 33074640
Congenital hypothyroidism v0.109 SGPL1 Chirag Patel reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35904228, 35748945, 32322566, 28165343, 38204317; Phenotypes: Sphingosine phosphate lyase insufficiency syndrome (SPLIS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.109 Chirag Patel Copied gene SGPL1 from panel Adrenal insufficiency
Congenital hypothyroidism v0.109 SGPL1 Chirag Patel gene: SGPL1 was added
gene: SGPL1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 33074640
Phenotypes for gene: SGPL1 were set to RENI syndrome (MIM#617575)
Congenital hypothyroidism v0.108 RNPC3 Chirag Patel Marked gene: RNPC3 as ready
Congenital hypothyroidism v0.108 RNPC3 Chirag Patel Gene: rnpc3 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.108 Chirag Patel Copied gene RNPC3 from panel Pituitary hormone deficiency
Congenital hypothyroidism v0.108 RNPC3 Chirag Patel gene: RNPC3 was added
gene: RNPC3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182; 37463572; 35792517; 34906446
Phenotypes for gene: RNPC3 were set to Growth hormone deficiency; Intellectual disability
Congenital hypothyroidism v0.107 POMC Chirag Patel Publications for gene: POMC were set to 33666293
Congenital hypothyroidism v0.106 POMC Chirag Patel Marked gene: POMC as ready
Congenital hypothyroidism v0.106 POMC Chirag Patel Gene: pomc has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.106 POMC Chirag Patel reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 40513101, 34177811, 29858905; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.106 Chirag Patel Copied gene POMC from panel Mendeliome
Congenital hypothyroidism v0.106 POMC Chirag Patel gene: POMC was added
gene: POMC was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMC were set to 33666293
Phenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Congenital hypothyroidism v0.105 NUDCD2 Chirag Patel Marked gene: NUDCD2 as ready
Congenital hypothyroidism v0.105 NUDCD2 Chirag Patel Gene: nudcd2 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.105 Chirag Patel Copied gene NUDCD2 from panel Mendeliome
Congenital hypothyroidism v0.105 NUDCD2 Chirag Patel gene: NUDCD2 was added
gene: NUDCD2 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDCD2 were set to 37272762
Phenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related
Penetrance for gene: NUDCD2 were set to unknown
Congenital hypothyroidism v0.104 NSD1 Chirag Patel Marked gene: NSD1 as ready
Congenital hypothyroidism v0.104 NSD1 Chirag Patel Gene: nsd1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.104 NSD1 Chirag Patel Classified gene: NSD1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.104 NSD1 Chirag Patel Gene: nsd1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.103 NSD1 Chirag Patel gene: NSD1 was added
gene: NSD1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NSD1 were set to 41024235; 34350334; 15942875
Phenotypes for gene: NSD1 were set to Sotos syndrome, MONDO:0019349
Review for gene: NSD1 was set to AMBER
Added comment: 3 individuals with Sotos syndrome and heterozygous loss‑of‑function NSD1 variants, with permanent congenital hypothyroidism. Congenital hypothyroidism in Sotos syndrome may be an underreported feature.
Sources: Literature
Congenital hypothyroidism v0.102 NNT Chirag Patel changed review comment from: PMID 34545694 describes 3 unrelated families with 3 heterozygous missense NNT variants that produce permanent congenital hypothyroidism due to thyroid dysgenesis. (p.Ala271Ser, p.Arg693His, p.Val861Met). There is no segregation information and the p.Arg693His variant is common in gnomAD. Functional assays (western blot, measurement of NADPH/NADPtotal and H2O2 generation, cell proliferation, and wounding healing assay) showed damaging effect of the NNT variants on stability and catalytic activity of proteins and redox balance of cells, which might lead to the abnormal development of thyroid gland.
Sources: Literature; to: PMID 34545694 describes 3 unrelated families with 3 heterozygous missense NNT variants that produce permanent congenital hypothyroidism due to thyroid agenesis. (p.Ala271Ser, p.Arg693His, p.Val861Met). There is no segregation information and the p.Arg693His variant is common in gnomAD. Functional assays (western blot, measurement of NADPH/NADPtotal and H2O2 generation, cell proliferation, and wounding healing assay) showed damaging effect of the NNT variants on stability and catalytic activity of proteins and redox balance of cells, which might lead to the abnormal development of thyroid gland.
Sources: Literature
Congenital hypothyroidism v0.102 NNT Chirag Patel Marked gene: NNT as ready
Congenital hypothyroidism v0.102 NNT Chirag Patel Gene: nnt has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.102 NNT Chirag Patel gene: NNT was added
gene: NNT was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: NNT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NNT were set to 34545694
Phenotypes for gene: NNT were set to Congenital hypothyroidism, MONDO:0018612
Review for gene: NNT was set to RED
Added comment: PMID 34545694 describes 3 unrelated families with 3 heterozygous missense NNT variants that produce permanent congenital hypothyroidism due to thyroid dysgenesis. (p.Ala271Ser, p.Arg693His, p.Val861Met). There is no segregation information and the p.Arg693His variant is common in gnomAD. Functional assays (western blot, measurement of NADPH/NADPtotal and H2O2 generation, cell proliferation, and wounding healing assay) showed damaging effect of the NNT variants on stability and catalytic activity of proteins and redox balance of cells, which might lead to the abnormal development of thyroid gland.
Sources: Literature
Congenital hypothyroidism v0.101 GBP1 Chirag Patel Marked gene: GBP1 as ready
Congenital hypothyroidism v0.101 GBP1 Chirag Patel Gene: gbp1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.101 GBP1 Chirag Patel reviewed gene: GBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34194003; Phenotypes: Congenital hypothyroidism, MONDO:0018612; Mode of inheritance: Unknown
Congenital hypothyroidism v0.101 GBP1 Chirag Patel Deleted their review
Congenital hypothyroidism v0.101 GBP1 Chirag Patel Deleted their comment
Congenital hypothyroidism v0.101 GBP1 Chirag Patel Mode of inheritance for gene: GBP1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Congenital hypothyroidism v0.100 GBP1 Chirag Patel Classified gene: GBP1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.100 GBP1 Chirag Patel Gene: gbp1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.99 GBP1 Chirag Patel gene: GBP1 was added
gene: GBP1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: GBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBP1 were set to 34194003
Phenotypes for gene: GBP1 were set to Congenital hypothyroidism, MONDO:0018612
Review for gene: GBP1 was set to AMBER
Added comment: PMID 34194003 reports 3 individuals from 3 unrelated families presenting with congenital hypothyroidism (neonatal onset, elevated TSH, low thyroid hormone, thyroid dysgenesis or diffuse hypoechoic thyroid). 1 individual had biallelic variants (p.E336fs and p.H150Y1) with parents as heterozygous unaffected carriers. The other 2 individuals had a heterozygous variant (p.R20X or p.L187P) inherited from an unaffected parent. Methylation-specific PCR and pyrosequencing found the CpG site of GBP1 was hypermethylated in the genomic DNA isolated from the 2 probands compared with their euthyroid parents.

Zebrafish morpholino knockdown of gbp1 causes thyroid primordium malformation and hypothyroidism. The phenotype was rescued by wild‑type human GBP1 mRNA but not by mutant p.H150Y or p.L187P. Human TPC1 thyroid cells expressing mutant GBP1 show mislocalisation, loss of β‑catenin interaction and disrupted adhesion complex formation.
Sources: Literature
Congenital hypothyroidism v0.98 FOXP3 Chirag Patel Marked gene: FOXP3 as ready
Congenital hypothyroidism v0.98 FOXP3 Chirag Patel Gene: foxp3 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.98 FOXP3 Chirag Patel Classified gene: FOXP3 as Amber List (moderate evidence)
Congenital hypothyroidism v0.98 FOXP3 Chirag Patel Gene: foxp3 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.97 FOXP3 Chirag Patel reviewed gene: FOXP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital hypothyroidism v0.97 Chirag Patel Copied gene FOXP3 from panel Mendeliome
Congenital hypothyroidism v0.97 FOXP3 Chirag Patel gene: FOXP3 was added
gene: FOXP3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: FOXP3.
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FOXP3 were set to 11295725; 11137993; 33668198; 33614561; 33330291; 32234571
Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Congenital hypothyroidism v0.96 DNAJC3 Chirag Patel Marked gene: DNAJC3 as ready
Congenital hypothyroidism v0.96 DNAJC3 Chirag Patel Gene: dnajc3 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.96 DNAJC3 Chirag Patel Classified gene: DNAJC3 as Green List (high evidence)
Congenital hypothyroidism v0.96 DNAJC3 Chirag Patel Gene: dnajc3 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.95 DNAJC3 Chirag Patel gene: DNAJC3 was added
gene: DNAJC3 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC3 were set to 34654017; 34630333; 33486469; 32738013; 28940199
Phenotypes for gene: DNAJC3 were set to juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523
Review for gene: DNAJC3 was set to GREEN
Added comment: 14 individuals from 8 unrelated families with biallelic variants in DNAJC3, presenting with congenital/early‑onset hypothyroidism, early‑onset diabetes mellitus, neuropathy, cerebellar ataxia, progressive neurodegeneration, short stature, and sensorineural hearing loss.
Sources: Literature
Congenital hypothyroidism v0.94 CDC42 Chirag Patel Publications for gene: CDC42 were set to 30872706; 29335451
Congenital hypothyroidism v0.93 CDC42 Chirag Patel Marked gene: CDC42 as ready
Congenital hypothyroidism v0.93 CDC42 Chirag Patel Gene: cdc42 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.93 CDC42 Chirag Patel Classified gene: CDC42 as Amber List (moderate evidence)
Congenital hypothyroidism v0.93 CDC42 Chirag Patel Gene: cdc42 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.92 CDC42 Chirag Patel gene: CDC42 was added
gene: CDC42 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to 30872706; 29335451
Phenotypes for gene: CDC42 were set to Congenital hypothyroidism, MONDO:0018612
Review for gene: CDC42 was set to AMBER
Added comment: ClinGen DEFINITIVE for Takenouchi-Kosaki syndrome (Oct 2021).

3 individuals with Takenouchi-Kosaki syndrome and congenital hypothyroidism. They all had the same rare de novo missense variant in CDC42 (p.Tyr64Cys). C. elegans knock‑in model demonstrated a hypomorphic loss‑of‑function effect. (NB 1 overlapping family between PMID 29335451 and PMID 30872706)
Sources: Literature
Congenital hypothyroidism v0.91 DUOX1 Chirag Patel edited their review of gene: DUOX1: Added comment: PMID 31428054:
1 individual with congenital hypothyroidism with heterozygous missense variant in DUOX1 (p.R1307Q). No segregation testing and variant is too common in gnomAD. HeLa cell overexpression of the p.R1307Q mutant showed reduced DUOX1 mRNA, protein and H₂O₂ production.

PMID 27373559:
1 individual with congenital hypothyroidism with heterozygous missense variant in DUOX1 (p.P219L). No segregation testing and no functional testing, and variant is too common in gnomAD.

PMID 33631011:
14 individuals with congenital hypothyroidism with DUOX1 variants (13 missense, 1 nonsense), BUT no information on individual phenotypes, segregation data, or functional validation.; Changed rating: RED; Changed publications: 31428054, 27373559, 33631011:; Changed phenotypes: Congenital hypothyroidism, MONDO:0018612; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.91 AKT3 Chirag Patel Marked gene: AKT3 as ready
Congenital hypothyroidism v0.91 AKT3 Chirag Patel Gene: akt3 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.91 AKT3 Chirag Patel gene: AKT3 was added
gene: AKT3 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT3 were set to 38459620; 35665751
Phenotypes for gene: AKT3 were set to overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Review for gene: AKT3 was set to RED
Added comment: ClinGen DEFINITIVE association (Jul 2021) with GOF mechanism and only missense variants reported.

PMID 35665751 reports 1 individual with a de novo AKT3 p.Gln78Arg gain‑of‑function variant causing congenital hypothyroidism (thyroid hypogenesis), megalencephaly and polymicrogyria. PMID 38459620 reports 1 individual with a AKT3 p.Asp322Tyr gain‑of‑function variant causing megalencephaly, growth hormone deficiency and central hypothyroidism.
Sources: Literature
Congenital hypothyroidism v0.90 HIST1H1E Chirag Patel Marked gene: HIST1H1E as ready
Congenital hypothyroidism v0.90 HIST1H1E Chirag Patel Gene: hist1h1e has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.90 HIST1H1E Chirag Patel gene: HIST1H1E was added
gene: HIST1H1E was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIST1H1E were set to 40444808; 34290007
Phenotypes for gene: HIST1H1E were set to Rahman syndrome, MIM# 617537
Review for gene: HIST1H1E was set to RED
Added comment: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth. Some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. More than 40 unrelated individuals reported. PTVs result in the same shift in frame and that cluster to a 94-base pair region in the HIST1H1E carboxy terminal domain.

PMID 34290007 and 40444808 report 2 unrelated individuals with Rahman syndrome with central hypothyroidism.
Sources: Literature
Congenital hypothyroidism v0.89 KCNQ1 Chirag Patel Publications for gene: KCNQ1 were set to 29097701
Congenital hypothyroidism v0.88 KCNQ1 Chirag Patel Marked gene: KCNQ1 as ready
Congenital hypothyroidism v0.88 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.88 Chirag Patel Copied gene KCNQ1 from panel Pituitary hormone deficiency
Congenital hypothyroidism v0.88 KCNQ1 Chirag Patel gene: KCNQ1 was added
gene: KCNQ1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ1 were set to 29097701
Phenotypes for gene: KCNQ1 were set to Hypopituitarism, MONDO:0005152
Congenital hypothyroidism v0.87 MAMLD1 Chirag Patel Marked gene: MAMLD1 as ready
Congenital hypothyroidism v0.87 MAMLD1 Chirag Patel Gene: mamld1 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.87 MAMLD1 Chirag Patel gene: MAMLD1 was added
gene: MAMLD1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MAMLD1 were set to 36898841
Phenotypes for gene: MAMLD1 were set to Congenital hypothyroidism MONDO:0018612
Review for gene: MAMLD1 was set to RED
Added comment: PMID 36898841 reports 2 individuals from 2 unrelated South East Asian families with hemizygous X‑linked MAMLD1 variants presenting with congenital hypothyroidism due to dyshormonogenesis. Both patients have early‑onset hypothyroidism (30 days and 15 years). Functional assays show gain‑of‑function effects on non‑canonical Notch signalling, increasing HES3 expression and suppressing HES1‑dependent thyroid hormone biosynthesis genes.

However, the non‑frameshift duplication p.Q477dup was maternally inherited and has a relatively high allele frequency in East Asian populations (0.54 %), and the in silico predictions for the de novo missense p.C942Y variant are benign.
Sources: Literature
Congenital hypothyroidism v0.86 OTUD6B Chirag Patel Marked gene: OTUD6B as ready
Congenital hypothyroidism v0.86 OTUD6B Chirag Patel Gene: otud6b has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.86 OTUD6B Chirag Patel Classified gene: OTUD6B as Red List (low evidence)
Congenital hypothyroidism v0.86 OTUD6B Chirag Patel Gene: otud6b has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.85 OTUD6B Chirag Patel reviewed gene: OTUD6B: Rating: RED; Mode of pathogenicity: None; Publications: 41188742, 32924626; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.85 Chirag Patel Copied gene OTUD6B from panel Mendeliome
Congenital hypothyroidism v0.85 OTUD6B Chirag Patel gene: OTUD6B was added
gene: OTUD6B was added to Congenital hypothyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTUD6B were set to 28343629; 32924626; 31147255
Phenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452
Congenital hypothyroidism v0.84 TBCE Chirag Patel Marked gene: TBCE as ready
Congenital hypothyroidism v0.84 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.84 TBCE Chirag Patel Classified gene: TBCE as Green List (high evidence)
Congenital hypothyroidism v0.84 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.83 TBCE Chirag Patel gene: TBCE was added
gene: TBCE was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to 39086450; 33150438; 26336027
Phenotypes for gene: TBCE were set to hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426
Review for gene: TBCE was set to GREEN
Added comment: PMID 33150438 describes a cohort of 63 patients with HRD syndrome, 62 of whom harbor the same homozygous c.155_166del12 deletion and one with homozygous c.207_208delTA. Hypothyroidism was found in 36% of patients.

PMID 26336027 reports a Moroccan child with HRD syndrome and congenital hypothyroidism with the homozygous c.155_166del12 deletion.

PMID 39086450 reports a Libyan child with HRD syndrome and congenital hypothyroidism with the homozygous c.155_166del12 deletion.
Sources: Literature
Congenital hypothyroidism v0.82 TUBB1 Zornitza Stark Classified gene: TUBB1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.82 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for mono-allelic. RED for bi-allelic.
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark Deleted their comment
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Changed rating: AMBER
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark Publications for gene: TUBB1 were set to 30446499; 31642429
Congenital hypothyroidism v0.80 TUBB1 Zornitza Stark Mode of inheritance for gene: TUBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.79 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Added comment: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; Changed rating: GREEN; Changed publications: 40071799; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.79 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Congenital hypothyroidism v0.79 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Congenital hypothyroidism v0.78 Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders
Congenital hypothyroidism v0.78 SOX3_PHPX_GCN Bryony Thompson STR: SOX3_PHPX_GCN was added
STR: SOX3_PHPX_GCN was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: SOX3_PHPX_GCN.
Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Congenital hypothyroidism v0.77 SOX3 Chirag Patel Classified gene: SOX3 as Green List (high evidence)
Congenital hypothyroidism v0.77 SOX3 Chirag Patel Gene: sox3 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.76 Chirag Patel Added reviews for gene SOX3 from panel Pituitary hormone deficiency
Congenital hypothyroidism v0.75 Chirag Patel Added reviews for gene THRB from panel Mendeliome
Congenital hypothyroidism v0.74 Chirag Patel Added reviews for gene THRA from panel Mendeliome
Congenital hypothyroidism v0.73 Chirag Patel Added reviews for gene TPO from panel Mendeliome
Congenital hypothyroidism v0.72 Chirag Patel Added reviews for gene TSHB from panel Mendeliome
Congenital hypothyroidism v0.71 Chirag Patel Added reviews for gene TSHR from panel Mendeliome
Congenital hypothyroidism v0.70 Chirag Patel Added reviews for gene TBL1X from panel Mendeliome
Congenital hypothyroidism v0.69 Chirag Patel Added reviews for gene SLC5A5 from panel Mendeliome
Congenital hypothyroidism v0.68 Chirag Patel Added reviews for gene SLC26A7 from panel Mendeliome
Congenital hypothyroidism v0.67 Chirag Patel Added reviews for gene SLC26A4 from panel Deafness_IsolatedAndComplex
Congenital hypothyroidism v0.66 Chirag Patel Added reviews for gene TG from panel Mendeliome
Congenital hypothyroidism v0.65 SLC16A2 Chirag Patel commented on gene: SLC16A2
Congenital hypothyroidism v0.65 Chirag Patel Added reviews for gene SLC16A2 from panel Mendeliome
Congenital hypothyroidism v0.64 Chirag Patel Added reviews for gene PROP1 from panel Pituitary hormone deficiency
Congenital hypothyroidism v0.63 Chirag Patel Added reviews for gene PRKAR1A from panel Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Congenital hypothyroidism v0.62 Chirag Patel Added reviews for gene POU1F1 from panel Pituitary hormone deficiency
Congenital hypothyroidism v0.61 Chirag Patel Added reviews for gene NKX2-1 from panel Mendeliome
Congenital hypothyroidism v0.60 Chirag Patel Added reviews for gene LHX4 from panel Pituitary hormone deficiency
Congenital hypothyroidism v0.59 Chirag Patel Added reviews for gene LHX3 from panel Mendeliome
Congenital hypothyroidism v0.58 Chirag Patel Added reviews for gene IYD from panel Mendeliome
Congenital hypothyroidism v0.57 GATA6 Chirag Patel Classified gene: GATA6 as Green List (high evidence)
Congenital hypothyroidism v0.57 GATA6 Chirag Patel Gene: gata6 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.56 GATA6 Chirag Patel Publications for gene GATA6 were changed from PMID: 31271559, 32207556, 23223019 to PMID: 31271559, 32207556, 23223019
Congenital hypothyroidism v0.55 GATA6 Chirag Patel edited their review of gene: GATA6: Added comment: PMID: 23223019 - 4 additional individuals with hypothyroidism along with typical phenotype features; Changed rating: GREEN; Changed publications: 23223019
Congenital hypothyroidism v0.53 NTN1 Zornitza Stark Classified gene: NTN1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.53 NTN1 Zornitza Stark Gene: ntn1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.52 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Congenital hypothyroidism v0.52 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.52 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from Alagille syndrome 1 to Alagille syndrome, MIM#118450
Congenital hypothyroidism v0.51 JAG1 Zornitza Stark Classified gene: JAG1 as Green List (high evidence)
Congenital hypothyroidism v0.51 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.50 TRPC4AP Zornitza Stark Marked gene: TRPC4AP as ready
Congenital hypothyroidism v0.50 TRPC4AP Zornitza Stark Gene: trpc4ap has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.50 TRPC4AP Zornitza Stark Phenotypes for gene: TRPC4AP were changed from Thyroid hypoplasia to Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related
Congenital hypothyroidism v0.49 TRPC4AP Zornitza Stark Classified gene: TRPC4AP as Amber List (moderate evidence)
Congenital hypothyroidism v0.49 TRPC4AP Zornitza Stark Gene: trpc4ap has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.48 TRPC4AP Zornitza Stark reviewed gene: TRPC4AP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.48 TRPC4AP Chris Richmond gene: TRPC4AP was added
gene: TRPC4AP was added to Congenital hypothyroidism. Sources: Expert Review,Literature
Mode of inheritance for gene: TRPC4AP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPC4AP were set to 32428920; 26786105
Phenotypes for gene: TRPC4AP were set to Thyroid hypoplasia
Review for gene: TRPC4AP was set to AMBER
Added comment: De novo TRPC4AP variant has been identified on WES in a child with thyroid dyshormonogenesis. Next, 179 patients with CHTD sequenced using a panel of target genes identifying four variants in TRPC4AP. During development, Choukair et al. showed that Trpc4ap is expressed in the brain, the thyroid bud, and the kidney of the African clawed frog (Xenopus laevis). This team showed that disabling Trpc4ap in the African clawed frog leads to thyroid hypoplasia during development. It was also shown that TRPC4AP interacted with IKBKG which activates the NF-κB signaling pathway and regulates the genes involved in the growth and survival of thyrocytes. Furthermore, the NF-kB would control the expression of NKX2-1, PAX8, TPO, NIS, and TG.18 The authors conclude that TRPC4AP would be a new candidate gene for TDs.

Insufficient clinical cases for green. Candidate gene. Propose amber.
Sources: Expert Review, Literature
Congenital hypothyroidism v0.48 JAG1 Chris Richmond gene: JAG1 was added
gene: JAG1 was added to Congenital hypothyroidism. Sources: Expert Review,Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 26760175; 28653287
Phenotypes for gene: JAG1 were set to Alagille syndrome 1
Review for gene: JAG1 was set to GREEN
Added comment: Het LoF cause Alagille. Notch pathway involved in thyroid development. Disruption causes hypothyroidism in zebrafish. PMID 28653287

Thyroid function in 21 patients with JAG1 mutations was analyzed and genetic analysis of JAG1 was carried out in an Italian cohort of 100 CH patients. De Filippis et al. reported the predominance of CH in 6/21 patients with Alagille syndrome, two of which had thyroid hypoplasia. PMID 26760175
Sources: Expert Review, Literature
Congenital hypothyroidism v0.48 NTN1 Chris Richmond gene: NTN1 was added
gene: NTN1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: NTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTN1 were set to 35774517; 25353184
Phenotypes for gene: NTN1 were set to Thyroid ectopia with hypothyroidism
Review for gene: NTN1 was set to AMBER
Added comment: Only 1x family (de novo NTN1 deletion) with animal model. Propose Amber.

NTN1 codes for Netrin 1, which is involved in regulating various developmental processes, such as angiogenesis, the migration of non-neuronal cells, and epithelial morphogenesis. Known to be associated with congenital mirror movts (OMIM 618264)

A patient with a congenital heart defect and TD (ectopia) has been described with a de novo deletion of NTN1. Embryos of the zebrafish with the ntn1a gene disabled have abnormal morphogenesis of the thyroid, probablydue to abnormal vascularisation not enabling the thyroid progenitor cells
Sources: Literature
Congenital hypothyroidism v0.48 DUOX2 Bryony Thompson reviewed gene: DUOX2: Rating: RED; Mode of pathogenicity: None; Publications: 27525530; Phenotypes: Congenital hypothyroidism MONDO:0018612; Mode of inheritance: Other
Congenital hypothyroidism v0.48 DUOX2 Bryony Thompson Mode of inheritance for gene: DUOX2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.47 CNTN6 Bryony Thompson Marked gene: CNTN6 as ready
Congenital hypothyroidism v0.47 CNTN6 Bryony Thompson Gene: cntn6 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.47 CNTN6 Bryony Thompson Classified gene: CNTN6 as Amber List (moderate evidence)
Congenital hypothyroidism v0.47 CNTN6 Bryony Thompson Gene: cntn6 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.46 CNTN6 Bryony Thompson gene: CNTN6 was added
gene: CNTN6 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: CNTN6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN6 were set to 38183624
Phenotypes for gene: CNTN6 were set to congenital hypothyroidism MONDO:0018612
Review for gene: CNTN6 was set to AMBER
Added comment: 2 probands with CH, 1 with a homozygous missense & 1 with compound het missense variants. Supporting in vitro functional assays.
Sources: Literature
Congenital hypothyroidism v0.45 DUOX1 Bryony Thompson Publications for gene: DUOX1 were set to PMID: 29650690
Congenital hypothyroidism v0.44 DUOX1 Bryony Thompson Classified gene: DUOX1 as Red List (low evidence)
Congenital hypothyroidism v0.44 DUOX1 Bryony Thompson Gene: duox1 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.43 DUOX1 Bryony Thompson reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: 29650690, 28633507; Phenotypes: congenital hypothyroidism MONDO:0018612; Mode of inheritance: Unknown
Congenital hypothyroidism v0.43 PAX8 Chirag Patel reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083, 9590296 11232006 15356023 15718293; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital hypothyroidism v0.43 TUBB1 Zornitza Stark changed review comment from: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants.; to: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants.

Congenital hypothyroidism in some.
Congenital hypothyroidism v0.43 SLC26A7 Zornitza Stark Marked gene: SLC26A7 as ready
Congenital hypothyroidism v0.43 SLC26A7 Zornitza Stark Gene: slc26a7 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.43 SLC26A7 Zornitza Stark Phenotypes for gene: SLC26A7 were changed from Primary congenital hypothyroidism (dyshormonogenesis) to Congenital hypothyroidism, MONDO:0018612, SLC26A7-related
Congenital hypothyroidism v0.42 SLC26A7 Zornitza Stark Publications for gene: SLC26A7 were set to 30333321; 29546359
Congenital hypothyroidism v0.41 SLC26A7 Zornitza Stark reviewed gene: SLC26A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34780050, 32486989, 31372509, 30333321; Phenotypes: Congenital hypothyroidism, MONDO:0018612, SLC26A7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.41 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Congenital hypothyroidism v0.41 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.41 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from GH, TSH, ACTH, LH, FSH deficiency; ectopic posterior pituitary; Anophthalmia Retinal dystrophy; normal or hypoplastic anterior pituitary; Pituitary hormone deficiency, combined, 6, 613986 to Pituitary hormone deficiency, combined, 6, MIM# 613986
Congenital hypothyroidism v0.40 OTX2 Zornitza Stark Publications for gene: OTX2 were set to 18628516; 26416826 (2015 review)
Congenital hypothyroidism v0.39 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728160, 35320640, 33950863; Phenotypes: Pituitary hormone deficiency, combined, 6, MIM# 613986; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.39 CDCA8 Zornitza Stark Phenotypes for gene: CDCA8 were changed from Congenital hypothyroidism; No OMIM number; thyroid dysgenesis to Congenital hypothyroidism, MONDO:0018612, CDCA8-related
Congenital hypothyroidism v0.38 IRS4 Zornitza Stark Marked gene: IRS4 as ready
Congenital hypothyroidism v0.38 IRS4 Zornitza Stark Gene: irs4 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.38 IRS4 Zornitza Stark Phenotypes for gene: IRS4 were changed from Congenital central hypothyroidism to Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035
Congenital hypothyroidism v0.37 IRS4 Zornitza Stark reviewed gene: IRS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30061370; Phenotypes: Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital hypothyroidism v0.37 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Congenital hypothyroidism v0.37 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.37 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Congenital hypothyroidism v0.37 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.36 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Congenital hypothyroidism. Sources: Expert Review
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 31949313; 32083401
Phenotypes for gene: KMT2D were set to Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186
Review for gene: KMT2D was set to GREEN
Added comment: Note new association between missense variants located in a specific region of KMT2D spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.
- >10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.
Sources: Expert Review
Congenital hypothyroidism v0.35 DUOX2 Zornitza Stark Tag treatable tag was added to gene: DUOX2.
Congenital hypothyroidism v0.35 Zornitza Stark List of related panels changed from to Hypothyroidism HP:0000821
Congenital hypothyroidism v0.34 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Congenital hypothyroidism v0.34 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Congenital hypothyroidism v0.34 TRHR Zornitza Stark Marked gene: TRHR as ready
Congenital hypothyroidism v0.34 TRHR Zornitza Stark Gene: trhr has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.34 TRHR Zornitza Stark Phenotypes for gene: TRHR were changed from mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Congenital hypothyroidism v0.33 TRHR Zornitza Stark reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.33 SECISBP2 Zornitza Stark Marked gene: SECISBP2 as ready
Congenital hypothyroidism v0.33 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.33 SECISBP2 Zornitza Stark Phenotypes for gene: SECISBP2 were changed from Short stature-delayed bone age due to thyroid hormone metabolism deficiency; Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Abnormal thyroid hormone metabolism; Thyroid hormone metabolism, abnormal, 609698; THYROID HORMONE METABOLISM, ABNORMAL to Thyroid hormone metabolism, abnormal, MIM# 609698
Congenital hypothyroidism v0.32 SECISBP2 Zornitza Stark Publications for gene: SECISBP2 were set to 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; 22247018; 24629861; 22986150; 19602558; 21084748
Congenital hypothyroidism v0.31 SECISBP2 Zornitza Stark reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone metabolism, abnormal, MIM# 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.31 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Congenital hypothyroidism v0.31 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.31 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Congenital hypothyroidism v0.30 IGSF1 Zornitza Stark Publications for gene: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598
Congenital hypothyroidism v0.29 IGSF1 Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23143598, 27310681, 30086211; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital hypothyroidism v0.29 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Congenital hypothyroidism v0.29 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.29 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism to Pituitary hormone deficiency, combined, 5, MIM# 182230
Congenital hypothyroidism v0.28 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital hypothyroidism v0.28 GNAS Zornitza Stark Marked gene: GNAS as ready
Congenital hypothyroidism v0.28 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.28 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism) to Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism)
Congenital hypothyroidism v0.27 GNAS Zornitza Stark Publications for gene: GNAS were set to 27922245; 17299070; 23412865
Congenital hypothyroidism v0.26 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27467896; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.26 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Congenital hypothyroidism v0.26 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.26 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from polycystic kidneys; neonatal non-autoimmune diabetes mellitus; congenital glaucoma; hepatic fibrosis; sensorineural deafness; Congenital hypothyroidism; variable cholestasis; dysmorphic facies; severe congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199
Congenital hypothyroidism v0.25 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to 26259131; 16715098
Congenital hypothyroidism v0.24 GLIS3 Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26259131, 16715098, 30555422, 28253873; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.24 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from Bamforth Lazarus syndrome, 241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850 to Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850
Congenital hypothyroidism v0.23 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model)
Congenital hypothyroidism v0.22 FOXE1 Zornitza Stark reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28928994, 28455095, 9697705], 12165566, 16882747; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.22 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.22 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6, MIM# 607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.22 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Congenital hypothyroidism v0.21 TTF2 Zornitza Stark Marked gene: TTF2 as ready
Congenital hypothyroidism v0.21 TTF2 Zornitza Stark Gene: ttf2 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.21 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Congenital hypothyroidism v0.21 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.21 DUOXA1 Zornitza Stark Marked gene: DUOXA1 as ready
Congenital hypothyroidism v0.21 DUOXA1 Zornitza Stark Gene: duoxa1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.21 DUOX1 Zornitza Stark Marked gene: DUOX1 as ready
Congenital hypothyroidism v0.21 DUOX1 Zornitza Stark Gene: duox1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.21 TTF1 Zornitza Stark Marked gene: TTF1 as ready
Congenital hypothyroidism v0.21 TTF1 Zornitza Stark Added comment: Comment when marking as ready: Targeted sequencing panel study.
Congenital hypothyroidism v0.21 TTF1 Zornitza Stark Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.21 TUBB1 Zornitza Stark Marked gene: TUBB1 as ready
Congenital hypothyroidism v0.21 TUBB1 Zornitza Stark Added comment: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants.
Congenital hypothyroidism v0.21 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.21 TUBB1 Zornitza Stark Phenotypes for gene: TUBB1 were changed from Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112; Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets
Congenital hypothyroidism v0.20 TUBB1 Zornitza Stark Publications for gene: TUBB1 were set to 30446499
Congenital hypothyroidism v0.19 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Congenital hypothyroidism v0.19 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.19 CDCA8 Zornitza Stark Marked gene: CDCA8 as ready
Congenital hypothyroidism v0.19 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.19 TTF2 Chirag Patel gene: TTF2 was added
gene: TTF2 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: TTF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTF2 were set to PMID: 30022773
Phenotypes for gene: TTF2 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Review for gene: TTF2 was set to RED
Added comment: 1 case only
Sources: Literature
Congenital hypothyroidism v0.18 GATA6 Chirag Patel Classified gene: GATA6 as Amber List (moderate evidence)
Congenital hypothyroidism v0.18 GATA6 Chirag Patel Gene: gata6 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.17 GATA6 Chirag Patel gene: GATA6 was added
gene: GATA6 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA6 were set to PMID: 31271559, 32207556
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, OMIM# 600001
Review for gene: GATA6 was set to AMBER
Added comment: 2 cases with congenital hypothyroidism so expansion of phenotype
Sources: Literature
Congenital hypothyroidism v0.16 DUOXA1 Chirag Patel Classified gene: DUOXA1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.16 DUOXA1 Chirag Patel Gene: duoxa1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.15 DUOXA1 Chirag Patel gene: DUOXA1 was added
gene: DUOXA1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOXA1 were set to PMID: 29650690
Phenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOXA1 was set to AMBER
Added comment: 12 cases, but digenic model with variants in other genes
Sources: Literature
Congenital hypothyroidism v0.14 DUOX1 Chirag Patel Classified gene: DUOX1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.14 DUOX1 Chirag Patel Gene: duox1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.13 DUOX1 Chirag Patel gene: DUOX1 was added
gene: DUOX1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOX1 were set to PMID: 29650690
Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #
Added comment: 11 cases, but digenic model, with variants in other genes
Sources: Literature
Congenital hypothyroidism v0.12 TTF1 Chirag Patel Classified gene: TTF1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.12 TTF1 Chirag Patel Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.11 TTF1 Chirag Patel gene: TTF1 was added
gene: TTF1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: TTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTF1 were set to PMID: 30022773
Phenotypes for gene: TTF1 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Review for gene: TTF1 was set to AMBER
Added comment: 5 cases, but one paper with limited additional evidence
Sources: Literature
Congenital hypothyroidism v0.10 TUBB1 Chirag Patel Classified gene: TUBB1 as Green List (high evidence)
Congenital hypothyroidism v0.10 TUBB1 Chirag Patel Gene: tubb1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.9 TUBB1 Chirag Patel reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30446499, 31642429; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital hypothyroidism v0.9 NKX2-5 Chirag Patel Classified gene: NKX2-5 as Green List (high evidence)
Congenital hypothyroidism v0.9 NKX2-5 Chirag Patel Gene: nkx2-5 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.8 NKX2-5 Chirag Patel reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16418214, 28749785, 27373559, 30022773; Phenotypes: Hypothyroidism, congenital nongoitrous, 5, OMIM # 225250, thyrioid ectopy, thyroid agenesis, congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.8 CDCA8 Chirag Patel Classified gene: CDCA8 as Green List (high evidence)
Congenital hypothyroidism v0.8 CDCA8 Chirag Patel Gene: cdca8 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.7 CDCA8 Chirag Patel reviewed gene: CDCA8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28025328, 29546359; Phenotypes: Congenital hypothyroidism, thyroid dysgenesis, no OMIM #; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital hypothyroidism v0.6 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Congenital hypothyroidism v0.6 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.6 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978; Congenital hypothyroidism; Neurological abnormalities; CAHTP; neonatal respiratory distress syndrome; recurrent respiratory infections; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; benign hereditary chorea to Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978
Congenital hypothyroidism v0.5 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Congenital hypothyroidism v0.5 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.5 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from MENTAL RETARDATION AND MUSCULAR ATROPHY; T3 RESISTANCE; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Monocarboxylate transporter 8 (MCT8) defect; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; TRIIODOTHYRONINE RESISTANCE; AHDS; Allan_Herndon_Dudley Syndrome; ALLAN-HERNDON SYNDROME; mental retardation, X-linked, with hypotonia; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON-DUDLEY SYNDROME; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523 to Allan-Herndon-Dudley syndrome, MIM# 300523
Congenital hypothyroidism v0.4 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Congenital hypothyroidism v0.4 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.4 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate to Bamforth Lazarus syndrome, 241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850
Congenital hypothyroidism v0.3 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Congenital hypothyroidism v0.3 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.3 DUOXA2 Zornitza Stark Phenotypes for gene: DUOXA2 were changed from transient congenital hypothyroidism; mild congenital hypothyroidism; eutopic gland-in-situ; Thyroid dyshormonogenesis 5, 274900; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5 to Thyroid dyshormonogenesis 5, 274900
Congenital hypothyroidism v0.2 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Congenital hypothyroidism v0.2 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.2 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism to Thyroid dyshormonogenesis 6, 607200
Congenital hypothyroidism v0.1 Zornitza Stark Panel status changed from internal to public
Panel types changed to Genetic Health Queensland; Rare Disease
Congenital hypothyroidism v0.0 SOX3 Zornitza Stark gene: SOX3 was added
gene: SOX3 was added to Congenital hypothyroidism. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SOX3 were set to 15800844; 12428212; 26416826 (2015 review)
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, MONDO:0010712; Panhypopituitarism, X-linked, OMIM:312000; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
Congenital hypothyroidism v0.0 TUBB1 Zornitza Stark gene: TUBB1 was added
gene: TUBB1 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TUBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TUBB1 were set to 30446499
Phenotypes for gene: TUBB1 were set to Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets
Congenital hypothyroidism v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-5 were set to 16418214
Phenotypes for gene: NKX2-5 were set to Hypothyroidism, congenital nongoitrous, 5, 225250; thyrioid ectopy, thyroid agenesis, congenital heart disease
Mode of pathogenicity for gene: NKX2-5 was set to Other - please provide details in the comments
Congenital hypothyroidism v0.0 CDCA8 Zornitza Stark gene: CDCA8 was added
gene: CDCA8 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism; No OMIM number; thyroid dysgenesis
Mode of pathogenicity for gene: CDCA8 was set to Other
Congenital hypothyroidism v0.0 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TSHR were set to 16060907 (Camilot et al., 2005 report subclinical hypothyroid subjects with heterozygous substitutions; 22876533; 7528344; PMID:17526952 (Kanda et al., 2006) examine Japanese patients homozygous and heterozygous for the R450H mutation in the TSHR gene. Homozygous subjects displayed mild hypothyroidism/ Heterozygous patients also demonstrated hypothyroidism, but less severe than that of homozygous subjects.; 27525530 (Nicholas et al.,2016) identify a monogenic basis of disease.; PMID:14725684 (Park et al. 2004) suggest that heterozygosity for an inactivating TSHR mutation may be associated with compensated hypothyroidism and thyroid hypoplasia
Phenotypes for gene: TSHR were set to Hypothyroidism, congenital, nongoitrous, 1 275200; thyroid dysgenesis; Congenital hypothyroidism; thyroid hypoplasia; compensated hypothryoidism; subclinical hypothyroidism; Hypothyroidism, Congenital, Nongoitrous, 1, 275200; eutopic gland-in-situ; TSH resistance
Congenital hypothyroidism v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSHB were set to 2792087; 27362444
Phenotypes for gene: TSHB were set to Congenital hypothyroidism; Hypothryoidism, congenital, nongoitrous 4, 275100; severe isolated central hypothyroidism
Congenital hypothyroidism v0.0 TRHR Zornitza Stark gene: TRHR was added
gene: TRHR was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRHR were set to PMID: 19213692; PMID: 9141550
Phenotypes for gene: TRHR were set to mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized
Congenital hypothyroidism v0.0 TPO Zornitza Stark gene: TPO was added
gene: TPO was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPO were set to 12938097; 27166716; 8964831; 11061528; 8027236; 27525530 (Nicholas et al.,2016) identify a monogenic basis of disease
Phenotypes for gene: TPO were set to Congenital hypothyroidism; Iodide organification defect; goitre; TDH2A; Thyroid dyshormonogenesis 2A, 274500
Congenital hypothyroidism v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
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 HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance, Selective Pituitary; Resistance to thyroid hormone (RTH); 145650; PRTH; REFETOFF SYNDROME; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; thyroid hormone unresponsiveness, generalized RTH, RTH beta; Thyroid Hormone Resistance (monoallelic); Thyroid hormone resistance, 188570; Thyroid hormone resistance, selective pituitary, 145650; THYROID HORMONE UNRESPONSIVENESS; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES; Refetoff syndrome; GRTH
Congenital hypothyroidism v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THRA were set to 27144938; 22168587; 27381958; 2567082; 24847459; 23940126; 22494134
Phenotypes for gene: THRA were set to Congenital hypothyroidism or thyroid agenesis; delayed dentition; macrocephaly; Hypothyroidism, Congenital, Nongoitrous, 6, 614450; Hypothyroidism, congenital, nongoitrous, 6, 614450; neurodevelopmental delay; Resistance to thyroid hormone; constipation; skeletal dysplasia; growth retardation; macrocytic anaemia
Congenital hypothyroidism v0.0 TG Zornitza Stark gene: TG was added
gene: TG was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TG were set to 27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease.; 23164529
Phenotypes for gene: TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3; low thyroglobulin, goitre
Congenital hypothyroidism v0.0 TBL1X Zornitza Stark gene: TBL1X was added
gene: TBL1X was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBL1X were set to 27603907; 30591955
Phenotypes for gene: TBL1X were set to isolated mild-moderate central hypothyroidism; Hypothyroidism, congenital, nongoitrous, 8, 301033
Congenital hypothyroidism v0.0 SLC5A5 Zornitza Stark gene: SLC5A5 was added
gene: SLC5A5 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A5 were set to 9171822; 16418213
Phenotypes for gene: SLC5A5 were set to Apparent athyreosis on nuclear medicine scan; childhood onset hypothyroidism; goitre; Thyroid dyshormonogenesis 1, 274400; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1
Congenital hypothyroidism v0.0 SLC26A7 Zornitza Stark gene: SLC26A7 was added
gene: SLC26A7 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A7 were set to 30333321; 29546359
Phenotypes for gene: SLC26A7 were set to Primary congenital hypothyroidism (dyshormonogenesis)
Congenital hypothyroidism v0.0 SLC26A4 Zornitza Stark gene: SLC26A4 was added
gene: SLC26A4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A4 were set to 11932316; 9398842
Phenotypes for gene: SLC26A4 were set to enlarged vestibular aqueduct; Sensorineural deafness; partial iodide organification defect; mild hypothyroidism; Pendred syndrome, 274600 (congenital deafness and thyroid goitre); goitre; Mondini defect
Congenital hypothyroidism v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
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 AND MUSCULAR ATROPHY; T3 RESISTANCE; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Monocarboxylate transporter 8 (MCT8) defect; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; TRIIODOTHYRONINE RESISTANCE; AHDS; Allan_Herndon_Dudley Syndrome; ALLAN-HERNDON SYNDROME; mental retardation, X-linked, with hypotonia; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON-DUDLEY SYNDROME; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523
Congenital hypothyroidism v0.0 SECISBP2 Zornitza Stark gene: SECISBP2 was added
gene: SECISBP2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 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; 22247018; 24629861; 22986150; 19602558; 21084748
Phenotypes for gene: SECISBP2 were set to Short stature-delayed bone age due to thyroid hormone metabolism deficiency; Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Abnormal thyroid hormone metabolism; Thyroid hormone metabolism, abnormal, 609698; THYROID HORMONE METABOLISM, ABNORMAL
Congenital hypothyroidism v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROP1 were set to 15126542; 16984240; 9768691; 15472175; 26416826 (2015 review); 23652424
Phenotypes for gene: PROP1 were set to Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time; GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency; Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations; Pituitary hormone deficiency, combined, 2, 262600
Congenital hypothyroidism v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAR1A were set to 22464250; 21651393
Phenotypes for gene: PRKAR1A were set to Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones; Acrodysostosis 1, with or without hormone resistance, 101800
Mode of pathogenicity for gene: PRKAR1A was set to Other - please provide details in the comments
Congenital hypothyroidism v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POU1F1 were set to 16060904; 11297581; 26416826
Phenotypes for gene: POU1F1 were set to congenital hypothyroidism; Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)
Mode of pathogenicity for gene: POU1F1 was set to Other - please provide details in the comments
Congenital hypothyroidism v0.0 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX8 were set to PMID:23647375; PMID:9590296
Phenotypes for gene: PAX8 were set to Hypothyroidism, Congenital, Nongoitrous, 2, 218700; thyroid dysgenesis; Congenital hypothyroidism; thyroid hypoplasia; Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700; eutopic gland-in-situ; urogenital tract malformations
Congenital hypothyroidism v0.0 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTX2 were set to 18628516; 26416826 (2015 review)
Phenotypes for gene: OTX2 were set to GH, TSH, ACTH, LH, FSH deficiency; ectopic posterior pituitary; Anophthalmia Retinal dystrophy; normal or hypoplastic anterior pituitary; Pituitary hormone deficiency, combined, 6, 613986
Congenital hypothyroidism v0.0 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 11854319; 24714694
Phenotypes for gene: NKX2-1 were set to Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978; Congenital hypothyroidism; Neurological abnormalities; CAHTP; neonatal respiratory distress syndrome; recurrent respiratory infections; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; benign hereditary chorea
Congenital hypothyroidism v0.0 LHX4 Zornitza Stark gene: LHX4 was added
gene: LHX4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX4 were set to 25955177; 26416826 (2015 review); 11567216
Phenotypes for gene: LHX4 were set to anterior pituitary hypoplasia; GH, TSH, ACTH, variable gonadotrophin deficiencies; etopic posterior pituitary; Pituitary hormone deficiency, combined, 4, 262700; cerebellar abnormalities
Congenital hypothyroidism v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LHX3 were set to 18407919; 10835633; 26416826 (2015 review); 21249393
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750; sensorineural deafness; GH, TSH, LH, FSH, PRL deficiency; limited neck rotation; short cervical spine; anterior pituitary may be normal, hypoplastic or enlarged
Congenital hypothyroidism v0.0 IYD Zornitza Stark gene: IYD was added
gene: IYD was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IYD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IYD were set to 24629858 (Review); 18765512; PMID:18434651 (Moreno et al., 2008): 2 missense mutations and a 3bp deletion were identified in 4 patients with hypothryoidism from 3 unrelated families; PMID:22535972 (Burniat et al., 2012) identified a homozygous IYD mutation in a child born to first-cousins. A 4.5-yr-old unaffected sister was found homozygous for the mutation
Phenotypes for gene: IYD were set to childhood/adolescent onset hypothyroidism; Thyroid dyshormonogenesis 4, 274800; normal iodide organification; Congenital hypothyroidism; raised urinary MIT and DIT; goitre
Congenital hypothyroidism v0.0 IRS4 Zornitza Stark gene: IRS4 was added
gene: IRS4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRS4 were set to 30061370; 10644546
Phenotypes for gene: IRS4 were set to Congenital central hypothyroidism
Congenital hypothyroidism v0.0 IGSF1 Zornitza Stark gene: IGSF1 was added
gene: IGSF1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598
Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia
Congenital hypothyroidism v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HESX1 were set to 9620767; 26416826 (2015 review); 11136712
Phenotypes for gene: HESX1 were set to GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism
Congenital hypothyroidism v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: GNAS were set to 27922245; 17299070; 23412865
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)
Congenital hypothyroidism v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLIS3 were set to 26259131; 16715098
Phenotypes for gene: GLIS3 were set to polycystic kidneys; neonatal non-autoimmune diabetes mellitus; congenital glaucoma; hepatic fibrosis; sensorineural deafness; Congenital hypothyroidism; variable cholestasis; dysmorphic facies; severe congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
Congenital hypothyroidism v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model)
Phenotypes for gene: FOXE1 were set to choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate
Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments
Congenital hypothyroidism v0.0 DUOXA2 Zornitza Stark gene: DUOXA2 was added
gene: DUOXA2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DUOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOXA2 were set to 27349010; 21367925; 28100324; 26758695; 18042646
Phenotypes for gene: DUOXA2 were set to transient congenital hypothyroidism; mild congenital hypothyroidism; eutopic gland-in-situ; Thyroid dyshormonogenesis 5, 274900; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5
Congenital hypothyroidism v0.0 DUOX2 Zornitza Stark gene: DUOX2 was added
gene: DUOX2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DUOX2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DUOX2 were set to 24423310; 16134168; 27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease; 12110737; 27166716
Phenotypes for gene: DUOX2 were set to transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism
Congenital hypothyroidism v0.0 Zornitza Stark Added panel Congenital hypothyroidism