Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
CDC42	gene	CDC42	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital hypothyroidism, MONDO:0018612				30872706;29335451;30872706;29335451		False	2	0;100;0	0.121	True		ENSG00000070831	ENSG00000070831	HGNC:1736													
CNTN6	gene	CNTN6	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	congenital hypothyroidism MONDO:0018612				38183624		False	2	0;100;0	0.121	True		ENSG00000134115	ENSG00000134115	HGNC:2176													
DUOXA1	gene	DUOXA1	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	congenital hypothyroidism, No OMIM #				PMID: 29650690		False	2	0;100;0	0.121	True		ENSG00000140254	ENSG00000140254	HGNC:26507													
FOXP3	gene	FOXP3	Expert Review Amber;Victorian Clinical Genetics Services	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790				11295725;11137993;33668198;33614561;33330291;32234571		False	2	50;50;0	0.121	True		ENSG00000049768	ENSG00000049768	HGNC:6106													
GBP1	gene	GBP1	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	Unknown	Congenital hypothyroidism, MONDO:0018612				34194003		False	2	0;100;0	0.121	True		ENSG00000117228	ENSG00000117228	HGNC:4182													
NSD1	gene	NSD1	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sotos syndrome, MONDO:0019349				41024235;34350334;15942875		False	2	0;100;0	0.121	True		ENSG00000165671	ENSG00000165671	HGNC:14234													
NTN1	gene	NTN1	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thyroid ectopia with hypothyroidism				35774517;25353184		False	2	0;100;0	0.121	False		ENSG00000065320	ENSG00000065320	HGNC:8029													
NUDCD2	gene	NUDCD2	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple congenital anomalies (MONDO:0019042), NUDCD2-related				37272762		False	2	0;100;0	0.121	True		ENSG00000170584	ENSG00000170584	HGNC:30535													
TANGO2	gene	TANGO2	Expert Review Amber;Victorian Clinical Genetics Services	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878				26805782;30245509;36473599 32929747		False	2	50;50;0	0.121	True		ENSG00000183597	ENSG00000183597	HGNC:25439													
TRPC4AP	gene	TRPC4AP	Expert Review;Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related				32428920;26786105		False	2	0;100;0	0.121	True		ENSG00000100991	ENSG00000100991	HGNC:16181													
TTF1	gene	TTF1	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	congenital hypothyroidism, thyroid dysgenesis, No OMIM #				PMID: 30022773		False	2	0;100;0	0.121	True		ENSG00000125482	ENSG00000125482	HGNC:12397													
TUBB1	gene	TUBB1	Expert Review Amber;Genomics England PanelApp	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112;Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets				30446499;31642429;40071799		False	2	50;50;0	0.121	True		ENSG00000101162	ENSG00000101162	HGNC:16257