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
CDCA8	gene	CDCA8	Expert Review;Expert Review Amber;Literature;NHS GMS	Congenital hypothyroidism		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Congenital hypothyroidism;thyroid dysgenesis;No OMIM number				28025328;29546359		False	2	0;100;0	3.3	False	Other	ENSG00000134690	ENSG00000134690	HGNC:14629													
NKX2-5	gene	NKX2-5	Expert Review Amber;Other;Radboud University Medical Center, Nijmegen	Congenital hypothyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypothyroidism, congenital nongoitrous, 5, 225250;thyrioid ectopy, thyroid agenesis, congenital heart disease				16418214		False	2	0;0;100	3.3	False	Other - please provide details in the comments	ENSG00000183072	ENSG00000183072	HGNC:2488													
TUBB1	gene	TUBB1	East of England GLH;Expert Review Amber	Congenital hypothyroidism		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets				30446499		False	2	0;100;0	3.3	False		ENSG00000101162	ENSG00000101162	HGNC:16257													
ISCA-37478-Loss	region		Expert Review Amber;ClinGen	Congenital hypothyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	microcephaly;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome;105830				22045295;7611294		False	2	0;0;0	3.3	False					15			23465365	28134728				3		60	cnv_loss	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss