TEST Undiagnosed metabolic disorders (Version 1.15)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 744 Entitiess
Green List (high evidence)	AARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AASS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	ABCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ABCB11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Tags
Green List (high evidence)	ABCB4	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ABCB7	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	ABCD1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	ABCD4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	ABHD5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ACAD8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ACAD9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ACADS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	ACADSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ACADVL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ACAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ACO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	ACOX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ACSF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	ADAR	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AFG3L2	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AGA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	AGK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AGPS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AGXT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AIFM1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	AKR1D1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALAD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALDH18A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALDH4A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	ALDH5A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	ALDH6A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALDH7A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	ALDOA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALDOB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALG11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALG12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALG3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALG6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ALG9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AMACR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AMN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	ANO10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	APOA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	APOA5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	APOC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	APOE	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	APOPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	APRT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	APTX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ARG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ARSA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	ARSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ARSE	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Tags
Green List (high evidence)	ASAH1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ASL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ASPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	ASS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ATAD3A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ATIC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ATP13A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ATP6AP1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Tags
Green List (high evidence)	ATP6V0A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ATP7A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	ATP7B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ATP8B1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ATPAF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	AUH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	B3GALNT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	B3GALT6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	B3GAT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	B3GLCT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	B4GALT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	B4GALT7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	BAAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	BCKDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	BCKDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	BCKDK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	BCS1L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	BOLA3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	BTD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	C12orf65	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	C19orf12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CA5A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CAT	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CBS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	CCDC115	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	CHCHD10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Tags
Green List (high evidence)	CHKB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CHST14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CHST3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CHST6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CHSY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CLN3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	CLN5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	CLN6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	CLN8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	CLPB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	CLPP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	CNNM2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COG4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COG6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COG7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COQ2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COQ4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COQ6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COQ8A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COQ8B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	COQ9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COX14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COX15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COX20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COX6A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	COX6B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	COX7B	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	CP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CPOX	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CPT1A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CPT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CTH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	CTNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	CTSA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CTSD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	CTSK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	CUBN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	CYC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	CYP27A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	D2HGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	DARS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	DARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DBH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	DBT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DDC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	DGUOK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DHCR7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DHFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DHTKD1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DLAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DLD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DNA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Tags
Green List (high evidence)	DNAJC12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Tags
Green List (high evidence)	DNAJC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	DNAJC5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	DNM1L	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DOLK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DPAGT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DPM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DPM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DPM3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DPYD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	DPYS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	DYM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	EARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	EBP	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	ECHS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	ELAC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	ENO3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature UKGTN Tags
Green List (high evidence)	EPG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Tags
Green List (high evidence)	EPM2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	ETFA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ETFB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ETFDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ETHE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	EXT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	EXT2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FA2H	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FAH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	FAR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	FARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FASTKD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FBP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FBXL4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	FGFR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Tags
Green List (high evidence)	FH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FKRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FKTN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FMO3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FOLR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FOXRED1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	FTCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	FUCA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	FUT8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Tags
Green List (high evidence)	FXN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	G6PC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	G6PC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GAA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	GABRG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GALC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GALE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GALK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GALNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GALNT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GALT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GAMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GARS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Tags
Green List (high evidence)	GATM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GBA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GBE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GCDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GCH1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GCLC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GDAP1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	GFER	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GFM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GFPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GIF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GK	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	GLA	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	GLB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GLDC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GLRA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GLRX5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GLUD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Tags
Green List (high evidence)	GLUL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GLYCTK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GM2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GMPPB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	GNE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GNMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GNPAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GNPTAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GNPTG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GPHN	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GRHPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GSS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GTPBP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	GUSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	GYG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GYS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	GYS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HAAO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HADH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HADHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HADHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HAMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HCCS	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	HCFC1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	HEXA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	HEXB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	HFE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HFE2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HGD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	HGSNAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HIBCH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HLCS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HMBS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Tags
Green List (high evidence)	HMGCL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HMGCS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	HOGA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HPD	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HPRT1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	HPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HSD17B10	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	HSD17B4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HSD3B7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HSPD1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HTRA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	HYAL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature UKGTN Tags
Green List (high evidence)	IARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	IBA57	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	IDH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Tags
Green List (high evidence)	IDS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	IDUA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	11p13 (WAGR syndrome) region Loss ISCA-37401-Loss Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 194072 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Tags
Green List (high evidence)	ISCU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	ISPD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	ITPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	IVD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	KARS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	KYNU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	L2HGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	LAMP2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	LARGE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	LARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	LBR	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	LCAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	LCT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	LDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	LDLR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Tags
Green List (high evidence)	LDLRAP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	LIAS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	LIPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	LIPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	LMBRD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	LONP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	LPIN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	LPL	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	LRPPRC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MAGT1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	MAN1B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MAN2B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MANBA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	MAOA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	MARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MAT1A	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	MCCC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	MCCC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	MCEE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MCOLN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MFF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MFN2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MFSD8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	MGAT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MGME1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	MLYCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MMAA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MMAB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MMACHC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	MMADHC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	MOCS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MOCS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MOGS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	MPDU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MPI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MPV17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MRPL3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	MRPS22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MSMO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	MT-ATP6	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-ATP8	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-CO1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-CO2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-CO3	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-CYB	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-ND1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-ND2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-ND3	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-ND4	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-ND4L	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-ND5	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-ND6	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-RNR1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TA	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TC	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TD	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TE	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TF	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TG	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TH	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TI	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TK	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TL1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TL2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TM	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TN	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TP	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TQ	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TR	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TS1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TS2	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TV	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TW	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MT-TY	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green List (high evidence)	MTFMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MTHFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MTO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MTPAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	MTR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	MTRR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	MTTP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	MUT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	MVK	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NAGA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	NAGLU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NAGS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	NDUFA1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFA10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFA11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFAF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFAF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFAF4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFAF5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFAF6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	NDUFB11	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Tags
Green List (high evidence)	NDUFB3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFS3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFS6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFS7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFS8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFV1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NDUFV2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NEU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NFU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	NGLY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Tags
Green List (high evidence)	NHLRC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	NPC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	NPC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	NSDHL	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	NT5C3A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	NUBPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	OAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	OCRL	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	OPA1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	OPA3	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	OTC	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	OXCT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PAH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	PANK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PCBD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	PCCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PCCB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PCK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Tags
Green List (high evidence)	PCSK9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Tags
Green List (high evidence)	PDHA1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	PDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PDHX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PDP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PDSS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PDSS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEPD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PET100	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	PEX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX11B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	PEX12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PEX7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PFKM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	PGAM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PGAP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PGAP3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	PGK1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	PGM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PGM3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	PHGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PHKA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	PHKA2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	PHKB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PHKG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PHYH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PIGA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	PIGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PIGN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PIGO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PIGT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PIGV	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PINK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PLA2G6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PMM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PMPCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	PNP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PNPO	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	PNPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	POLG	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	POLG2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	POMGNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	POMGNT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	POMT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	POMT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PPA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	PPOX	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	PRKAG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	PRODH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PSAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PUS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PYCR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PYGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	PYGM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	QDPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	RARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	RBCK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	RFT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	RMND1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	RNASEH1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	RPIA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	RPL10	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	RRM2B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SACS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	SAMHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SAR1B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SCO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SCO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SCP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SDHAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SDHD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SEC23B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SERAC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SGSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC16A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	SLC17A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	SLC19A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC19A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC22A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	SLC25A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A38	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC25A46	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	SLC2A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC30A10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	SLC35A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC35C1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC35D1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC37A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC39A14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	SLC39A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC39A8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC40A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC46A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC52A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	SLC52A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	SLC5A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SLC6A19	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	SLC6A20	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	SLC7A7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SMPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	SPG7	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SRD5A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SSR4	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Tags
Green List (high evidence)	ST3GAL5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SUCLA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SUCLG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	SUMF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	SUOX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	SURF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TACO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TALDO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Green List (high evidence)	TANGO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Tags
Green List (high evidence)	TAZ	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	TFR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TIMM8A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Tags
Green List (high evidence)	TK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TMEM165	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TMEM5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	TMEM70	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TPK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	TPP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	TRIM37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TRMU	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TRNT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	TRPM6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TSFM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TTC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TUSC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TWNK	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	TYMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	UGT1A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	UMPS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Green List (high evidence)	UROD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Tags
Green List (high evidence)	UROS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	VARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	WDR45	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Tags
Green List (high evidence)	XDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Green List (high evidence)	XYLT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	XYLT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	YARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Tags
Amber List (moderate evidence)	ABCG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ABCG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ABHD12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ACY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ADA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ADSL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ALAS2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ALDH3A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ALG13	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ALPL	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	APOB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	CISD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	CLDN16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	CLDN19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	CSTB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	CTSC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	CYP7B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Amber List (moderate evidence)	DCXR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	DHCR24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	DHDDS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	DHODH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	FECH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	IER3IP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Tags
Amber List (moderate evidence)	LIPC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	NDUFB9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Tags
Amber List (moderate evidence)	OPLAH	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Tags
Amber List (moderate evidence)	PIGM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	POR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	PRPS1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	PSAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	PSPH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	PTS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	RANBP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	RBP4	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	RNASEH2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	RNASEH2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	RNASEH2C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	RNASET2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	RYR1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Tags
Amber List (moderate evidence)	SC5D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SDHAF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SDHC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SETX	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SKIV2L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC12A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC18A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC25A12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC2A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC35A2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC3A1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC6A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC6A8	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC7A9	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SPTLC1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SPTLC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	ST3GAL3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	STAT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Tags
Amber List (moderate evidence)	STS	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	TAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	TCN2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	TH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	TREX1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	TTC37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	TTPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	TUFM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	UMOD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	UQCRQ	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	UROC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	VIPAS39	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	VKORC1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	VPS33B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	WFS1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Red List (low evidence)	ABAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	ABCG2	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	AHCY	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	ALG14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	ALG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	AMPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	AOX1	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	ARSG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Tags
Red List (low evidence)	ATP5A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	ATP5E	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	ATXN7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Tags
Red List (low evidence)	BCAT1	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	BCAT2	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	C1GALT1C1	0 reviews	Other - please specifiy in evaluation comments	Sources Expert Review Red Literature Tags
Red List (low evidence)	CD320	0 reviews	Unknown	Sources Emory Genetics Laboratory Expert Review Amber Expert Review Red Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Red List (low evidence)	CETP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Tags
Red List (low evidence)	CLPS	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	CNDP1	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	COA5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	COX4I2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	CYP7A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	DHFR2	0 reviews	Unknown	Sources UKGTN Tags
Red List (low evidence)	DLST	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	DMGDH	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	DPEP1	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	EGF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	FOLR2	0 reviews	Unknown	Sources UKGTN Tags
Red List (low evidence)	FOLR3	0 reviews	Unknown	Sources UKGTN Tags
Red List (low evidence)	FXYD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	GALNT12	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	GCSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Red List (low evidence)	GGT1	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	GLS	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	HAL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Tags
Red List (low evidence)	HARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	HTT_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Tags
Red List (low evidence)	HYKK	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	None ISCA-37431-Gain Region	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red List (low evidence)	JPH3_CTG STR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red List (low evidence)	KHK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	LFNG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	LIPI	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Tags
Red List (low evidence)	MRPS16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Tags
Red List (low evidence)	MTHFD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Tags
Red List (low evidence)	NAT8L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Tags
Red List (low evidence)	NDUFA12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Tags
Red List (low evidence)	NDUFA9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Tags
Red List (low evidence)	NT5C	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	NUP62	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Tags
Red List (low evidence)	OGDH	0 reviews	Unknown	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Tags
Red List (low evidence)	PDK1	0 reviews	Unknown	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Tags
Red List (low evidence)	PDK2	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	PDK3	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Tags
Red List (low evidence)	PDK4	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	PDP2	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	PDPR	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	PDXK	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	PEX11A	0 reviews	Unknown	Sources Literature Tags
Red List (low evidence)	PHKG1	0 reviews	Unknown	Sources Expert Review Red UKGTN Tags
Red List (low evidence)	PHYKPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	PITRM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Tags
Red List (low evidence)	PNLIP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	PPM1B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	PPM1K	0 reviews	Unknown	Sources Expert Review Red UKGTN Tags
Red List (low evidence)	PREPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	PTPRZ1	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	SCARB1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	SHPK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	SLC22A4	0 reviews	Unknown	Sources Literature Tags
Red List (low evidence)	SLC25A2	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	SLC27A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	SLC36A2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Red Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Red List (low evidence)	SLC52A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red UKGTN Tags
Red List (low evidence)	SLCO1B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Red List (low evidence)	SLCO1B3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Tags
Red List (low evidence)	SUCLG2	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	SUGCT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	TCN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	TDO2	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	TM6SF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red List (low evidence)	TMEM126A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	TPMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	TREH	0 reviews	Unknown	Sources Expert Review Red Literature Tags
Red List (low evidence)	UPB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	UQCRB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	USF1	0 reviews	Unknown	Sources Expert Review Red Literature Tags
No list	ATN1_CAG STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Other Tags STR
No list	KCNQ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Tags

TEST Undiagnosed metabolic disorders (Version 1.15)

3 reviewers

744 Entities

8 reviewed, 583 green

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