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Congenital hypothyroidism v2.3 OTX2 Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None
Congenital hypothyroidism v2.3 Ivone Leong Panel version has been signed off
Congenital hypothyroidism v2.1 TBL1X Ivone Leong Phenotypes for gene: TBL1X were changed from isolated mild-moderate central hypothyroidism to isolated mild-moderate central hypothyroidism; Hypothyroidism, congenital, nongoitrous, 8, 301033
Congenital hypothyroidism v2.0 Ivone Leong promoted panel to version 2.0
Congenital hypothyroidism v1.29 Ivone Leong List of related panels changed from Congenital hypothyroidism or thyroid agenesis to Congenital hypothyroidism or thyroid agenesis; R145
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Congenital hypothyroidism v1.27 SLC26A7 Ivone Leong Classified gene: SLC26A7 as Green List (high evidence)
Congenital hypothyroidism v1.27 SLC26A7 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. SLC26A7 is not associated with a phenotype in OMIM or Gene2Phenotype; however, there is enough evidence to support promoting this gene to green status. PMID: 29546359 describes a Saudi Arabian family with 2 affected daughters who are homozygous for two tandem SLC26A7 deletions (located next to each other). Slc26a7 knockout mice exhibit hypothyroidism and hyperplastic thyroid changes.

PMID: 30333321 describes 6 families with congenital hypothyroidism. 2 Pakistani families with consanguineous parents, 1 Turkish family with consanguineous parents and 3 Finnish families with non-consanguineous parents. The Pakistani and Turkish families have the same homozygous nonsense variant and the Finnish families have the same homozygous frameshift variant. The study also included a Slc26a7-null mouse model that exhibited hypothyoidism phenotype.
Congenital hypothyroidism v1.27 SLC26A7 Ivone Leong Gene: slc26a7 has been classified as Green List (High Evidence).
Congenital hypothyroidism v1.26 SLC26A7 Ivone Leong Publications for gene: SLC26A7 were set to
Congenital hypothyroidism v1.25 TUBB1 Ivone Leong Classified gene: TUBB1 as Amber List (moderate evidence)
Congenital hypothyroidism v1.25 TUBB1 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TUBB1 is not associated with congenital hypothyroidism in OMIM or Gene2Phenotype. PMID: 30446499 reported on 3 unrelated families with affected individuals who have different variants in TUBB1.

Family #1: consanguineous family of Algerian descent with 3 out of 5 children affected by disease. All 3 children are homozygous for a missense variant and both parents are heterozygous.

Family #2: Moroccan father and French mother with 1 affected child (3 children in total). The affected child is heterozygous for a nonsense variant. The father has the same heterozygous variant, but no tests could be done to confirm phenotype. A paternal aunt with the same heterozygous variant also presented with disease.

Family #3: French family with 1 affected child (3 children in total). Affected child is heterozygous for a frameshift variant. The father has the same heterozygous variant but has normal thyroid function (did not present with disease).

Knockout mouse model showed a thyroid phenotype.

Due to the evidence from family #2 and #3 it was decided that there was not yet enough evidence to promote TUBB1 to green gene status.
Congenital hypothyroidism v1.25 TUBB1 Ivone Leong Gene: tubb1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v1.24 IRS4 Ivone Leong Classified gene: IRS4 as Green List (high evidence)
Congenital hypothyroidism v1.24 IRS4 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. IRS4 is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 30061370 reported on 5 Dutch families (paper didn't mention whether they are are unrelated or not) with different variants in the gene. The different variants are nonsense and frameshift variants. The paper also describe results from a knockout mouse model that did not show any signs of disease, which is contradictory to the knockout mouse model described in PMID: 10644546, which showed mild metabolic differences to WT controls. However, despite the mouse results there is enough evidence to support promoting this gene to grene status.
Congenital hypothyroidism v1.24 IRS4 Ivone Leong Gene: irs4 has been classified as Green List (High Evidence).
Congenital hypothyroidism v1.23 IRS4 Ivone Leong Publications for gene: IRS4 were set to 30061370
Congenital hypothyroidism v1.22 ISCA-37478-Loss Ivone Leong Classified Region: ISCA-37478-Loss as Amber List (moderate evidence)
Congenital hypothyroidism v1.22 ISCA-37478-Loss Ivone Leong Added comment: Comment on list classification: Demoted from green to amber as adviced by Nadia Schoenmakers (East of England GLH).
Congenital hypothyroidism v1.22 ISCA-37478-Loss Ivone Leong Region: isca-37478-loss has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v1.21 ISCA-37404-Loss Ivone Leong Classified Region: ISCA-37404-Loss as Amber List (moderate evidence)
Congenital hypothyroidism v1.21 ISCA-37404-Loss Ivone Leong Added comment: Comment on list classification: Demoted from green to amber as adviced by Nadia Schoenmakers (East of England GLH).
Congenital hypothyroidism v1.21 ISCA-37404-Loss Ivone Leong Region: isca-37404-loss has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v1.20 SLC26A7 Nadia Schoenmakers reviewed gene: SLC26A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary congenital hypothyroidism (dyshormonogenesis), OMIM 608479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v1.20 TUBB1 Nadia Schoenmakers reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital hypothyroidism v1.20 IRS4 Nadia Schoenmakers reviewed gene: IRS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital central hypothyroidism OMIM 300904; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital hypothyroidism v1.19 SLC26A7 Ivone Leong gene: SLC26A7 was added
gene: SLC26A7 was added to Congenital hypothyroidism. Sources: East of England GLH
Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A7 were set to Primary congenital hypothyroidism (dyshormonogenesis)
Congenital hypothyroidism v1.19 TUBB1 Ivone Leong gene: TUBB1 was added
gene: TUBB1 was added to Congenital hypothyroidism. Sources: East of England GLH
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 v1.19 IRS4 Ivone Leong gene: IRS4 was added
gene: IRS4 was added to Congenital hypothyroidism. Sources: East of England GLH
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
Phenotypes for gene: IRS4 were set to Congenital central hypothyroidism
Congenital hypothyroidism v1.18 TBL1X Ivone Leong Classified gene: TBL1X as Green List (high evidence)
Congenital hypothyroidism v1.18 TBL1X Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on new evidence provided by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Congenital hypothyroidism v1.18 TBL1X Ivone Leong Gene: tbl1x has been classified as Green List (High Evidence).
Congenital hypothyroidism v1.17 CDCA8 Ivone Leong Classified gene: CDCA8 as Amber List (moderate evidence)
Congenital hypothyroidism v1.17 CDCA8 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Congenital hypothyroidism v1.17 CDCA8 Ivone Leong Gene: cdca8 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v1.16 CDCA8 Ivone Leong Phenotypes for gene: CDCA8 were changed from Congenital hypothyroidism; thyroid dysgenesis to Congenital hypothyroidism; thyroid dysgenesis; No OMIM number
Congenital hypothyroidism v1.15 TBL1X Ivone Leong Publications for gene: TBL1X were set to PMID: 27603907
Congenital hypothyroidism v1.14 CDCA8 Ivone Leong Source NHS GMS was added to CDCA8.
Congenital hypothyroidism v1.13 CDCA8 Ivone Leong Source Expert Review was added to CDCA8.
Rating Changed from No List (delete) to Red List (low evidence)
Congenital hypothyroidism v1.12 CDCA8 Ivone Leong All sources for gene: CDCA8 were removed
Congenital hypothyroidism v1.11 CDCA8 Ivone Leong Classified gene: CDCA8 as Amber List (moderate evidence)
Congenital hypothyroidism v1.11 CDCA8 Ivone Leong Gene: cdca8 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v1.10 CDCA8 Martina Owens gene: CDCA8 was added
gene: CDCA8 was added to Congenital hypothyroidism. Sources: Literature
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; thyroid dysgenesis
Penetrance for gene: CDCA8 were set to unknown
Mode of pathogenicity for gene: CDCA8 was set to Other
Review for gene: CDCA8 was set to AMBER
Added comment: Carre et al 2017 (PMID: 28025328) - Whole-exome sequencing of familial cases with thyroid dysgenesis: biallelic missense variants were found in 2 cases of one consanguineous family, and monoallelic variants in 2 other sporadic cases. Zou et al 2018 (PMID: 29546359) monallelic splice variant identified in patient with thyroid dysgenesis. Mechanistic role of CDCA8 in thyroid dysgenesis is still unclear.
Sources: Literature
Congenital hypothyroidism v1.10 TBL1X Martina Owens reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27603907, 30591955; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital hypothyroidism v1.9 THRA Ellen McDonagh Tag treatable tag was added to gene: THRA.
Congenital hypothyroidism v1.9 THRB Ellen McDonagh Tag treatable tag was added to gene: THRB.
Congenital hypothyroidism v1.9 THRB Ellen McDonagh commented on gene: THRB: To expand the scope of this panel, this gene was added and the version changed to 1.8. This gene and information originates from the Hyperthyroidism panel (Version 1.6, code 236). This addition was approved by the Genomics England Clinical Team.
Congenital hypothyroidism v1.9 SLC16A2 Ellen McDonagh Tag treatable tag was added to gene: SLC16A2.
Congenital hypothyroidism v1.9 SLC16A2 Ellen McDonagh commented on gene: SLC16A2: To expand the scope of this panel, this gene was added and the version changed to 1.8. This gene and information originates from the Hyperthyroidism panel (Version 1.6, code 236). This addition was approved by the Genomics England Clinical Team.
Congenital hypothyroidism v1.9 SECISBP2 Ellen McDonagh commented on gene: SECISBP2
Congenital hypothyroidism v1.8 THRB Ellen McDonagh gene: THRB was added
gene: THRB was added to Congenital hypothyroidism. Sources: Expert Review Green
Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: THRB were set to 24847459
Phenotypes for gene: THRB were set to Resistance to thyroid hormone (RTH); THYROID HORMONE UNRESPONSIVENESS; 145650; REFETOFF SYNDROME; PRTH; Thyroid hormone resistance, autosomal recessive, 274300; Refetoff syndrome; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; thyroid hormone unresponsiveness, generalized RTH, RTH beta; Thyroid hormone resistance, 188570; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; Thyroid Hormone Resistance (monoallelic); Thyroid hormone resistance, selective pituitary, 145650; HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; GRTH; Thyroid Hormone Resistance, Selective Pituitary; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
Congenital hypothyroidism v1.8 SLC16A2 Ellen McDonagh gene: SLC16A2 was added
gene: SLC16A2 was added to Congenital hypothyroidism. Sources: Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to 24847459
Phenotypes for gene: SLC16A2 were set to MENTAL RETARDATION AND MUSCULAR ATROPHY; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; monocarboxylate transporter 8 (MCT8) deficiency; ALLAN-HERNDON SYNDROME; Monocarboxylate transporter 8 (MCT8) defect; Allan-Herndon-Dudley syndrome; AHDS; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Allan_Herndon_Dudley Syndrome; mental retardation, X-linked, with hypotonia; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan-Herndon-Dudley Syndrome; T3 RESISTANCE; TRIIODOTHYRONINE RESISTANCE; 300523; Allan-Herndon-Dudley syndrome, 300523; ALLAN-HERNDON-DUDLEY SYNDROME
Congenital hypothyroidism v1.8 SECISBP2 Ellen McDonagh gene: SECISBP2 was added
gene: SECISBP2 was added to Congenital hypothyroidism. Sources: Expert Review Green
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 24629861; 22986150; 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; 20501692; 19602558; 22247018; 16228000; 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 v1.7 THRA Ellen McDonagh Publications for gene: THRA were set to 22168587; 23940126
Congenital hypothyroidism v1.4 Ellen McDonagh Panel name changed from Congenital hypothyroidism or thyroid agenesis to Congenital hypothyroidism
List of related panels changed from Congenital hypothyroidism to Congenital hypothyroidism or thyroid agenesis
Congenital hypothyroidism v1.3 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Congenital hypothyroidism v1.2 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Congenital hypothyroidism or thyroid agenesis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105834; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome
Congenital hypothyroidism v1.2 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Congenital hypothyroidism or thyroid agenesis. Sources: ClinGen,Expert Review Green
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; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Congenital hypothyroidism Rebecca Foulger promoted panel to version 1
Congenital hypothyroidism OTX2 Rebecca Foulger classified OTX2 as green
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Congenital hypothyroidism PRKAR1A Rebecca Foulger classified PRKAR1A as green
Congenital hypothyroidism SOX3 Rebecca Foulger classified SOX3 as red
Congenital hypothyroidism SOX3 Rebecca Foulger commented on SOX3
Congenital hypothyroidism SOX3 Rebecca Foulger commented on SOX3
Congenital hypothyroidism SOX3 Rebecca Foulger commented on SOX3
Congenital hypothyroidism PRKAR1A Rebecca Foulger commented on PRKAR1A
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Congenital hypothyroidism PROP1 Rebecca Foulger classified PROP1 as green
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Congenital hypothyroidism LHX4 Rebecca Foulger classified LHX4 as green
Congenital hypothyroidism LHX3 Rebecca Foulger classified LHX3 as green
Congenital hypothyroidism HESX1 Rebecca Foulger classified HESX1 as green
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Congenital hypothyroidism PRKAR1A Rebecca Foulger edited their review of PRKAR1A
Congenital hypothyroidism PRKAR1A Rebecca Foulger commented on PRKAR1A
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Congenital hypothyroidism OTX2 Rebecca Foulger edited their review of OTX2
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Congenital hypothyroidism LHX4 Rebecca Foulger commented on LHX4
Congenital hypothyroidism LHX4 Rebecca Foulger commented on LHX4
Congenital hypothyroidism HESX1 Rebecca Foulger commented on HESX1
Congenital hypothyroidism LHX4 Rebecca Foulger commented on LHX4
Congenital hypothyroidism LHX3 Rebecca Foulger commented on LHX3
Congenital hypothyroidism LHX3 Rebecca Foulger commented on LHX3
Congenital hypothyroidism LHX3 Rebecca Foulger commented on LHX3
Congenital hypothyroidism HESX1 Rebecca Foulger commented on HESX1
Congenital hypothyroidism HESX1 Rebecca Foulger commented on HESX1
Congenital hypothyroidism HESX1 Rebecca Foulger commented on HESX1
Congenital hypothyroidism PRKAR1A Nadia Schoenmakers added PRKAR1A to panel
Congenital hypothyroidism PRKAR1A Nadia Schoenmakers reviewed PRKAR1A
Congenital hypothyroidism OTX2 Nadia Schoenmakers added OTX2 to panel
Congenital hypothyroidism OTX2 Nadia Schoenmakers reviewed OTX2
Congenital hypothyroidism SOX3 Nadia Schoenmakers added SOX3 to panel
Congenital hypothyroidism SOX3 Nadia Schoenmakers reviewed SOX3
Congenital hypothyroidism LHX4 Nadia Schoenmakers added LHX4 to panel
Congenital hypothyroidism LHX4 Nadia Schoenmakers reviewed LHX4
Congenital hypothyroidism LHX3 Nadia Schoenmakers added LHX3 to panel
Congenital hypothyroidism LHX3 Nadia Schoenmakers reviewed LHX3
Congenital hypothyroidism HESX1 Nadia Schoenmakers added HESX1 to panel
Congenital hypothyroidism HESX1 Nadia Schoenmakers reviewed HESX1
Congenital hypothyroidism POU1F1 Nadia Schoenmakers reviewed POU1F1
Congenital hypothyroidism PROP1 Nadia Schoenmakers added PROP1 to panel
Congenital hypothyroidism PROP1 Nadia Schoenmakers reviewed PROP1
Congenital hypothyroidism DUOX2 Rebecca Foulger commented on DUOX2
Congenital hypothyroidism SLC26A4 Rebecca Foulger commented on SLC26A4
Congenital hypothyroidism TPO Rebecca Foulger commented on TPO
Congenital hypothyroidism TG Rebecca Foulger commented on TG
Congenital hypothyroidism POU1F1 Rebecca Foulger classified POU1F1 as green
Congenital hypothyroidism TRHR Rebecca Foulger classified TRHR as green
Congenital hypothyroidism TRHR Rebecca Foulger commented on TRHR
Congenital hypothyroidism TRHR Rebecca Foulger commented on TRHR
Congenital hypothyroidism TRHR Rebecca Foulger commented on TRHR
Congenital hypothyroidism POU1F1 Rebecca Foulger commented on POU1F1
Congenital hypothyroidism POU1F1 Rebecca Foulger commented on POU1F1
Congenital hypothyroidism GNAS Rebecca Foulger classified GNAS as green
Congenital hypothyroidism SLC26A4 Rebecca Foulger marked SLC26A4 as ready
Congenital hypothyroidism SLC26A4 Rebecca Foulger classified SLC26A4 as green
Congenital hypothyroidism THRA Rebecca Foulger marked THRA as ready
Congenital hypothyroidism THRA Rebecca Foulger classified THRA as green
Congenital hypothyroidism THRA Rebecca Foulger commented on THRA
Congenital hypothyroidism DUOX2 Rebecca Foulger commented on DUOX2
Congenital hypothyroidism NKX2-5 Rebecca Foulger classified NKX2-5 as amber
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism TBL1X Rebecca Foulger classified TBL1X as amber
Congenital hypothyroidism TBL1X Rebecca Foulger commented on TBL1X
Congenital hypothyroidism TBL1X Rebecca Foulger commented on TBL1X
Congenital hypothyroidism IGSF1 Rebecca Foulger marked IGSF1 as ready
Congenital hypothyroidism IGSF1 Rebecca Foulger classified IGSF1 as green
Congenital hypothyroidism IGSF1 Rebecca Foulger commented on IGSF1
Congenital hypothyroidism POU1F1 Rebecca Foulger commented on POU1F1
Congenital hypothyroidism POU1F1 Rebecca Foulger commented on POU1F1
Congenital hypothyroidism NKX2-5 Rebecca Foulger commented on NKX2-5
Congenital hypothyroidism TSHB Rebecca Foulger marked TSHB as ready
Congenital hypothyroidism TSHB Rebecca Foulger classified TSHB as green
Congenital hypothyroidism TSHB Rebecca Foulger commented on TSHB
Congenital hypothyroidism TG Rebecca Foulger marked TG as ready
Congenital hypothyroidism TG Rebecca Foulger classified TG as green
Congenital hypothyroidism TG Rebecca Foulger edited their review of TG
Congenital hypothyroidism TG Rebecca Foulger commented on TG
Congenital hypothyroidism SLC5A5 Rebecca Foulger marked SLC5A5 as ready
Congenital hypothyroidism SLC5A5 Rebecca Foulger classified SLC5A5 as green
Congenital hypothyroidism SLC5A5 Rebecca Foulger commented on SLC5A5
Congenital hypothyroidism SLC26A4 Rebecca Foulger commented on SLC26A4
Congenital hypothyroidism SLC26A4 Rebecca Foulger commented on SLC26A4
Congenital hypothyroidism SLC26A4 Rebecca Foulger edited their review of SLC26A4
Congenital hypothyroidism SLC26A4 Rebecca Foulger commented on SLC26A4
Congenital hypothyroidism IYD Rebecca Foulger classified IYD as green
Congenital hypothyroidism IYD Rebecca Foulger commented on IYD
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism GNAS Rebecca Foulger edited their review of GNAS
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism DUOXA2 Rebecca Foulger marked DUOXA2 as ready
Congenital hypothyroidism DUOXA2 Rebecca Foulger classified DUOXA2 as green
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital hypothyroidism TPO Rebecca Foulger marked TPO as ready
Congenital hypothyroidism TPO Rebecca Foulger classified TPO as green
Congenital hypothyroidism TPO Rebecca Foulger edited their review of TPO
Congenital hypothyroidism TPO Rebecca Foulger commented on TPO
Congenital hypothyroidism THRA Rebecca Foulger commented on THRA
Congenital hypothyroidism FOXE1 Rebecca Foulger marked FOXE1 as ready
Congenital hypothyroidism FOXE1 Rebecca Foulger edited their review of FOXE1
Congenital hypothyroidism FOXE1 Rebecca Foulger classified FOXE1 as green
Congenital hypothyroidism FOXE1 Rebecca Foulger classified FOXE1 as green
Congenital hypothyroidism FOXE1 Rebecca Foulger commented on FOXE1
Congenital hypothyroidism DUOX2 Rebecca Foulger marked DUOX2 as ready
Congenital hypothyroidism DUOX2 Rebecca Foulger classified DUOX2 as green
Congenital hypothyroidism DUOX2 Rebecca Foulger edited their review of DUOX2
Congenital hypothyroidism DUOX2 Rebecca Foulger commented on DUOX2
Congenital hypothyroidism TSHR Rebecca Foulger marked TSHR as ready
Congenital hypothyroidism TSHR Rebecca Foulger commented on TSHR
Congenital hypothyroidism TSHR Rebecca Foulger edited their review of TSHR
Congenital hypothyroidism TSHR Rebecca Foulger commented on TSHR
Congenital hypothyroidism PAX8 Rebecca Foulger marked PAX8 as ready
Congenital hypothyroidism PAX8 Rebecca Foulger edited their review of PAX8
Congenital hypothyroidism PAX8 Rebecca Foulger commented on PAX8
Congenital hypothyroidism NKX2-1 Rebecca Foulger marked NKX2-1 as ready
Congenital hypothyroidism NKX2-1 Rebecca Foulger commented on NKX2-1
Congenital hypothyroidism GLIS3 Rebecca Foulger marked GLIS3 as ready
Congenital hypothyroidism GLIS3 Rebecca Foulger commented on GLIS3
Congenital hypothyroidism TBL1X Nadia Schoenmakers added TBL1X to panel
Congenital hypothyroidism TBL1X Nadia Schoenmakers reviewed TBL1X
Congenital hypothyroidism TRHR Nadia Schoenmakers added TRHR to panel
Congenital hypothyroidism TRHR Nadia Schoenmakers reviewed TRHR
Congenital hypothyroidism IGSF1 Nadia Schoenmakers added IGSF1 to panel
Congenital hypothyroidism IGSF1 Nadia Schoenmakers reviewed IGSF1
Congenital hypothyroidism TSHB Nadia Schoenmakers reviewed TSHB
Congenital hypothyroidism TG Nadia Schoenmakers reviewed TG
Congenital hypothyroidism SLC5A5 Nadia Schoenmakers reviewed SLC5A5
Congenital hypothyroidism SLC26A4 Nadia Schoenmakers reviewed SLC26A4
Congenital hypothyroidism NKX2-5 Nadia Schoenmakers reviewed NKX2-5
Congenital hypothyroidism IYD Nadia Schoenmakers reviewed IYD
Congenital hypothyroidism DUOXA2 Nadia Schoenmakers reviewed DUOXA2
Congenital hypothyroidism DUOX2 Nadia Schoenmakers edited their review of DUOX2
Congenital hypothyroidism TPO Nadia Schoenmakers reviewed TPO
Congenital hypothyroidism THRA Nadia Schoenmakers reviewed THRA
Congenital hypothyroidism FOXE1 Nadia Schoenmakers edited their review of FOXE1
Congenital hypothyroidism FOXE1 Nadia Schoenmakers reviewed FOXE1
Congenital hypothyroidism DUOX2 Nadia Schoenmakers reviewed DUOX2
Congenital hypothyroidism PAX8 Nadia Schoenmakers edited their review of PAX8
Congenital hypothyroidism TSHR Nadia Schoenmakers reviewed TSHR
Congenital hypothyroidism PAX8 Nadia Schoenmakers reviewed PAX8
Congenital hypothyroidism NKX2-1 Nadia Schoenmakers reviewed NKX2-1
Congenital hypothyroidism GLIS3 Nadia Schoenmakers reviewed GLIS3
Congenital hypothyroidism FOXE1 Olivia Niblock reviewed FOXE1
Congenital hypothyroidism THRA Olivia Niblock added THRA to panel
Congenital hypothyroidism THRA Olivia Niblock reviewed THRA
Congenital hypothyroidism TG Olivia Niblock added TG to panel
Congenital hypothyroidism TG Olivia Niblock reviewed TG
Congenital hypothyroidism NKX2-1 Olivia Niblock added NKX2-1 to panel
Congenital hypothyroidism NKX2-1 Olivia Niblock reviewed NKX2-1