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
AKT3	gene	AKT3	Expert Review Red;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283				38459620;35665751		False	1	0;0;100	0.121	True		ENSG00000117020	ENSG00000117020	HGNC:393													
DUOX1	gene	DUOX1	Expert Review Red;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	congenital hypothyroidism, No OMIM #				29650690;28633507		False	1	0;0;100	0.121	True		ENSG00000137857	ENSG00000137857	HGNC:3062													
HIST1H1E	gene	HIST1H1E	Expert Review Red;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rahman syndrome, MIM# 617537				40444808;34290007		False	1	0;0;100	0.121	True		ENSG00000168298	ENSG00000168298	HGNC:4718													
MAMLD1	gene	MAMLD1	Expert Review Red;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Congenital hypothyroidism MONDO:0018612				36898841		False	1	0;0;100	0.121	True		ENSG00000013619	ENSG00000013619	HGNC:2568													
NNT	gene	NNT	Expert Review Red;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital hypothyroidism, MONDO:0018612				34545694		False	1	0;0;100	0.121	True		ENSG00000112992	ENSG00000112992	HGNC:7863													
OTUD6B	gene	OTUD6B	Expert Review Red;Victorian Clinical Genetics Services	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452				28343629;32924626;31147255		False	1	50;0;50	0.121	True		ENSG00000155100	ENSG00000155100	HGNC:24281													
TTF2	gene	TTF2	Expert Review Red;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	congenital hypothyroidism, thyroid dysgenesis, No OMIM #				PMID: 30022773		False	1	0;0;100	0.121	True		ENSG00000116830	ENSG00000116830	HGNC:12398