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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