Prepair 500+ (Version 2.0)

Description

This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).

It has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.

Genes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.

Please note only Green genes are analysed and reported.

Panel Activity

20 reviewers

Lauren Rogers (Victorian Clinical Genetics Services)
Clare Hunt (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Lisa Norbart (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)
Andrew Coventry (Victorian Clinical Genetics Services)
Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)
Lana Giameos (Victorian Clinical Genetics Services)
Lauren Thomas (VIctorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Kate Scarff (Victorian Clinical Genetics Services)
Shakira Heerah (Victorian Clinical Genetics Services)
Cassandra Muller (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)

629 Entities

629 reviewed, 626 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 629 Entitiess
Green Green List (high evidence)	AAAS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 (3) Tags
Green Green List (high evidence)	AARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 8, 614096 (3) Tags
Green Green List (high evidence)	ABCA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) Tags
Green Green List (high evidence)	ABCA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) Tags
Green Green List (high evidence)	ABCB11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 2, 601847 (3) Tags
Green Green List (high evidence)	ABCB4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 3, 602347 (3) Tags
Green Green List (high evidence)	ABCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) Tags
Green Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenoleukodystrophy, 300100 (3) Tags
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126) Tags
Green Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 Tags
Green Green List (high evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes VLCAD deficiency (MIM#201475) Tags
Green Green List (high evidence)	ACAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alpha-methylacetoacetic aciduria, MIM#203750 Tags
Green Green List (high evidence)	ACOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM#264470 Tags
Green Green List (high evidence)	ADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency due to ADA deficiency MIM#102700 Adenosine deaminase deficiency, partial MIM#102700 Tags
Green Green List (high evidence)	ADAMTS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) Tags
Green Green List (high evidence)	ADAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 6, MIM#615010 Tags
Green Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polymicrogyria, bilateral frontoparietal, MIM#606854 Tags
Green Green List (high evidence)	ADGRV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 2C, MIM# 605472 Tags
Green Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adenylosuccinase deficiency MIM#103050 Tags
Green Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aspartylglucosaminuria, MIM# 208400, MONDO:0008830 Tags
Green Green List (high evidence)	AGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sengers syndrome, MIM#212350 Tags
Green Green List (high evidence)	AGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease IIIa and IIIb, MIM#232400 Tags
Green Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121 Tags
Green Green List (high evidence)	AGXT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperoxaluria, primary, type 1 MIM #259900 Tags
Green Green List (high evidence)	AHI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 3 MIM#608629 Tags
Green Green List (high evidence)	AIFM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Deafness, X-linked 5, 300614 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 Tags
Green Green List (high evidence)	AIPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 Tags
Green Green List (high evidence)	AK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Reticular dysgenesis MIM# 267500 Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IIIA (MIM#219150) Spastic paraplegia 9B, autosomal recessive (MIM#616586) Tags
Green Green List (high evidence)	ALDH3A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sjogren-Larsson syndrome (MIM#270200) Tags
Green Green List (high evidence)	ALDH5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100 Tags
Green Green List (high evidence)	ALDOB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fructose intolerance, hereditary, MIM# 229600 Tags
Green Green List (high evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Id, MIM#601110 Tags
Green Green List (high evidence)	ALG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ic, MIM#603147 Tags
Green Green List (high evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alstrom syndrome, MIM# 203800 Tags
Green Green List (high evidence)	ALPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypophosphatasia, childhood (MIM#241510) Hypophosphatasia, infantile (MIM#241500) Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 9, MIM#615809 Tags
Green Green List (high evidence)	AMT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycine encephalopathy MIM#620398 Tags
Green Green List (high evidence)	AP1S2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Green Green List (high evidence)	AQP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diabetes insipidus, nephrogenic, type 2 MIM# 125800 Tags
Green Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Argininemia MIM# 207800 Tags
Green Green List (high evidence)	ARL13B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 8, MIM# 612291 Tags
Green Green List (high evidence)	ARL6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Metachromatic leukodystrophy, MIM# 250100 Tags
Green Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 Tags
Green Green List (high evidence)	ARX	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 1 MIM#308350 Hydranencephaly with abnormal genitalia MIM#300215 Lissencephaly, X-linked 2 MIM#300215 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Proud syndrome MIM#300004 Tags
Green Green List (high evidence)	ASL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Argininosuccinic aciduria MIM#207900 Tags
Green Green List (high evidence)	ASNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Asparagine synthetase deficiency, MIM#615574 Tags
Green Green List (high evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Canavan disease MIM#271900 Tags
Green Green List (high evidence)	ASPM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 5, primary, autosomal recessive (MIM#608716) Tags
Green Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinaemia (MIM# 215700) Tags
Green Green List (high evidence)	ATM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia-telangiectasia, MIM# 208900 Tags
Green Green List (high evidence)	ATP6V1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags
Green Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Menkes disease(MIM#309400) Occipital horn syndrome(MIM#304150) Tags
Green Green List (high evidence)	ATP7B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wilson disease (MIM#277900) Tags
Green Green List (high evidence)	ATP8B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 1, MIM#211600 Tags
Green Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Seckel syndrome 1(MIM#210600) Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519 Tags
Green Green List (high evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria, type I, MIM# 250950 MONDO:0009610 Tags
Green Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peters-plus syndrome (MIM#261540) Tags
Green Green List (high evidence)	BBS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 10 (MIM#615987) Tags
Green Green List (high evidence)	BBS12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 12, MIM#615989 Tags
Green Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 2, MIM#615981 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 4, MIM#615982 Tags
Green Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green Green List (high evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 9 MIM#615986 Tags
Green Green List (high evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Maple syrup urine disease, type Ia, MIM# 248600 Tags
Green Green List (high evidence)	BCKDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Maple syrup urine disease, type Ib 620698 Tags
Green Green List (high evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GRACILE syndrome, MIM#603358 Mitochondrial complex III deficiency, nuclear type 1, MIM#124000 Tags
Green Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bloom Syndrome MIM# 210900 Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	BRWD3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 93 MIM#300659 Tags
Green Green List (high evidence)	BSND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bartter syndrome, type 4a MIM#602522 Tags
Green Green List (high evidence)	BTK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Agammaglobulinemia, X-linked 1 MIM#300755 Bruton-type agammaglobulinemia MONDO:0010421 Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615 Tags
Green Green List (high evidence)	C5orf42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 17, MIM# 614615 Orofaciodigital syndrome VI, MIM# 277170 Tags
Green Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desbuquois dysplasia 1, MIM# 251450 Epiphyseal dysplasia, multiple, 7, MIM# 617719 Tags
Green Green List (high evidence)	CAPN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM#253600 Tags
Green Green List (high evidence)	CASK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes X-linked syndromic intellectual disability MONDO:0020119 Tags
Green Green List (high evidence)	CASQ2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938) Tags
Green Green List (high evidence)	CC2D1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 3, MIM# 608443 Tags
Green Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes COACH syndrome, MIM#216360 Joubert syndrome 9, MIM#612285 Meckel syndrome 6, MIM#612284 Retinitis pigmentosa 93, MIM# 619845 Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hennekam lymphangiectasia-lymphoedema syndrome 1 MIM#235510 Tags
Green Green List (high evidence)	CCDC103	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Primary ciliary dyskinesia-17, MIM # 614679 Tags
Green Green List (high evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 14 MIM#613807 Tags
Green Green List (high evidence)	CCDC88C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrocephalus, congenital, 1 MIM#236600 Tags
Green Green List (high evidence)	CD3D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 19, severe combined MIM# 615617 Tags
Green Green List (high evidence)	CD40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency with hyper-IgM, type 3, MIM# 606843 Tags
Green Green List (high evidence)	CD40LG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency, X-linked, with hyper-IgM MIM# 308230 Tags
Green Green List (high evidence)	CDH23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1D (MIM#601067) Tags
Green Green List (high evidence)	CENPJ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 6, primary MIM#608393 Seckel syndrome 4 MIM#613676 Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 9, primary, autosomal recessive, MIM# 614852 MONDO:0013923 Seckel syndrome 5, MIM# 613823 MONDO:0013443 Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CEP290-related ciliopathy MONDO:0100451 Bardet-Biedl syndrome 14, MIM# 615991 Joubert syndrome 5 610188 Leber congenital amaurosis 10, MIM# 611755 Meckel syndrome 4, MIM# 611134 Senior-Loken syndrome 6, MIM# 610189 Tags
Green Green List (high evidence)	CEP41	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CFTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cystic fibrosis, MIM#219700 MONDO:0009061 Tags
Green Green List (high evidence)	CHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 6, presynaptic MIM#254210 Tags
Green Green List (high evidence)	CHRNE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809 Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931 Tags
Green Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Escobar syndrome (MIM# 265000) Multiple pterygium syndrome, lethal type, (MIM# 253290) Tags
Green Green List (high evidence)	CIITA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes MHC class II deficiency 1 MIM#209920 Tags
Green Green List (high evidence)	CKAP2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Filippi syndrome MIM#272440 Tags
Green Green List (high evidence)	CLCN5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dent disease, MIM#300009 Tags
Green Green List (high evidence)	CLCN7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 4, MIM#611490 Tags
Green Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal 6, MIM#601780 Tags
Green Green List (high evidence)	CLN8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 10 MIM#615803 Tags
Green Green List (high evidence)	CLPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271) Tags
Green Green List (high evidence)	CLRN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 3A, MIM#276902 Tags
Green Green List (high evidence)	CNGB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achromatopsia 3 MIM#262300 Tags
Green Green List (high evidence)	COL11A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Deafness, autosomal recessive 53 MIM#609706 Fibrochondrogenesis 2 MIM#614524 Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150 Tags
Green Green List (high evidence)	COL17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787 Tags
Green Green List (high evidence)	COL18A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Knobloch syndrome, type 1 MIM#267750 Tags
Green Green List (high evidence)	COL27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Steel syndrome (MIM#615155) Tags
Green Green List (high evidence)	COL4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome 3b, autosomal recessive MIM#620536 MONDO:0957811 Tags
Green Green List (high evidence)	COL4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome 2, autosomal recessive MIM# 203780 Tags
Green Green List (high evidence)	COL4A5	1 review 1 green	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 Mackenzie's Mission Phenotypes Alport syndrome 1, X-linked, MIM#301050 Tags
Green Green List (high evidence)	COL6A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ullrich congenital muscular dystrophy 1A MIM#254090 Tags
Green Green List (high evidence)	COL7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa dystrophica inversa MIM#226600 Epidermolysis bullosa dystrophica, autosomal recessive MIM#226600 Epidermolysis bullosa dystrophica, localisata variant MIM#226600 Epidermolysis bullosa pruriginosa MIM#604129 Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3MC syndrome 2, MIM# 265050 MONDO:0009927 Tags
Green Green List (high evidence)	COLQ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 5 MIM#603034 MONDO:0011281 Tags
Green Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119 Tags
Green Green List (high evidence)	CPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carbamoylphosphate synthetase I deficiency MIM#237300 Tags
Green Green List (high evidence)	CPT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CPT deficiency, hepatic, type IA, MIM#255120 Tags
Green Green List (high evidence)	CPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CPT II deficiency, infantile MIM#600649 CPT II deficiency, lethal neonatal MIM#608836 Tags
Green Green List (high evidence)	CRB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 8, MIM#613835 Tags
Green Green List (high evidence)	CRTAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type VII MIM#610682 Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 21 MIM#615636 MONDO:0014288 Tags
Green Green List (high evidence)	CTNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cystinosis, nephropathic MIM#219800 Tags
Green Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galactosialidosis MIM#256540 Tags
Green Green List (high evidence)	CTSC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 Tags
Green Green List (high evidence)	CTSD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 Tags
Green Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pycnodysostosis MIM#265800 Tags
Green Green List (high evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354 Tags
Green Green List (high evidence)	CYBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chronic granulomatous disease 4 MIM#233690 Tags
Green Green List (high evidence)	CYBB	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Chronic granulomatous disease, X-linked, MIM#306400 Tags
Green Green List (high evidence)	CYP11A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete MIM#613743 Tags
Green Green List (high evidence)	CYP11B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency MIM#203400 Hypoaldosteronism, congenital, due to CMO II deficiency MIM#610600 Tags
Green Green List (high evidence)	CYP17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110 Tags
Green Green List (high evidence)	CYP1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Anterior segment dysgenesis 6, multiple subtypes, MIM#617315 Tags
Green Green List (high evidence)	CYP27A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebrotendinous xanthomatosis, MIM#213700 Tags
Green Green List (high evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bile acid synthesis defect, congenital, 3, MIM#613812 Spastic paraplegia 5A, MIM#270800 Tags
Green Green List (high evidence)	D2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes D-2-hydroxyglutaric aciduria, MIM#600721 Tags
Green Green List (high evidence)	DBT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Maple syrup urine disease, type II, MIM#248600 Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Woodhouse-Sakati syndrome MIM#241080 Tags
Green Green List (high evidence)	DCLRE1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, Athabascan type, MIM# 602450 Omenn syndrome, MIM# 603554 Tags
Green Green List (high evidence)	DCX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly, X-linked MIM#300067 Subcortical laminal heterotopia, X-linked MIM#300067 Tags
Green Green List (high evidence)	DDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aromatic L-amino acid decarboxylase deficiency MIM#608643 Aromatic L-amino acid decarboxylase deficiency (MIM#608643) Tags
Green Green List (high evidence)	DDX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warsaw breakage syndrome MIM#613398 Tags
Green Green List (high evidence)	DGAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diarrhoea 7, protein-losing enteropathy type, MIM# 615863 congenital diarrhea 7 with exudative enteropathy MONDO:0014375 Tags
Green Green List (high evidence)	DGUOK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Portal hypertension, noncirrhotic, 1, MIM# 617068 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Tags
Green Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desmosterolosis, MIM#602398 Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Smith-Lemli-Opitz syndrome (MIM#270400) Tags
Green Green List (high evidence)	DHDDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 59, MIM#613861 Congenital disorder of glycosylation, type 1bb, MIM# 613861 Tags
Green Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Perlman syndrome MIM# 267000 Tags
Green Green List (high evidence)	DKC1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, X-linked MIM#305000 Tags
Green Green List (high evidence)	DLD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dihydrolipoamide dehydrogenase deficiency (MIM#246900) Tags
Green Green List (high evidence)	DLG3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 90 MIM#300850 Tags
Green Green List (high evidence)	DLL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 MONDO:0020692 Tags
Green Green List (high evidence)	DMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Duchenne muscular dystrophy MIM#310200 Tags
Green Green List (high evidence)	DNAH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Tags
Green Green List (high evidence)	DNAH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644 Tags
Green Green List (high evidence)	DNAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 Tags
Green Green List (high evidence)	DNAI2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 Tags
Green Green List (high evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MIM#242860) Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adams-Oliver syndrome 2, MIM# 614219 Tags
Green Green List (high evidence)	DOK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 10, MIM# 254300 Fetal akinesia deformation sequence 3, MIM# 618389 Tags
Green Green List (high evidence)	DYM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyggve-Melchior-Clausen disease MIM#223800 Smith-McCort dysplasia MIM#607326 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091 Tags
Green Green List (high evidence)	DYSF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Miyoshi muscular dystrophy 1 MIM#254130 MONDO:0024545 Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601 MONDO:0009676 Myopathy, distal, with anterior tibial onset MIM#606768 MONDO:0011721 Tags
Green Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 Tags
Green Green List (high evidence)	EDA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 Tooth agenesis, selective, X-linked 1 MIM#313500 Tags
Green Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolcott-Rallison syndrome MIM#226980 Tags
Green Green List (high evidence)	EIF2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896 Tags
Green Green List (high evidence)	EIF2B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312 Tags
Green Green List (high evidence)	EIF2B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313 Tags
Green Green List (high evidence)	EIF2B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314 Tags
Green Green List (high evidence)	EIF2B5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315) Tags
Green Green List (high evidence)	ELP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dysautonomia, familial MIM#223900 Tags
Green Green List (high evidence)	EMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300 Tags
Green Green List (high evidence)	ENPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arterial calcification, generalized, of infancy, 1 MIM#208000 Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312 Tags
Green Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Vici syndrome MIM# 242840 Tags
Green Green List (high evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebrooculofacioskeletal syndrome 2, MIM# 610756 Trichothiodystrophy 1, photosensitive, MIM# 601675 Xeroderma pigmentosum, group D, MIM# 278730 Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108 Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215 XFE progeroid syndrome, MIM# 610965 MONDO:0012590 Tags
Green Green List (high evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G, MIM# 278780 MONDO:0010216 Tags
Green Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506 Tags
Green Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cockayne syndrome, type A, MIM#216400 Tags
Green Green List (high evidence)	ESCO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Roberts-SC phocomelia syndrome (MIM#268300) Tags
Green Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIA, MIM# 231680 Tags
Green Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIB, MIM# 231680 Tags
Green Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIC, MIM# 231680 Tags
Green Green List (high evidence)	ETHE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ethylmalonic encephalopathy, MIM#602473 Tags
Green Green List (high evidence)	EVC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ellis-van Creveld syndrome, MIM# 225500 Tags
Green Green List (high evidence)	EVC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ellis-van Creveld syndrome MIM#225500 Tags
Green Green List (high evidence)	EXOSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green Green List (high evidence)	EXOSC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 1C, MIM#616081 Tags
Green Green List (high evidence)	F2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypoprothrombinaemia (MIM#613679) Tags
Green Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tyrosinaemia, type I, MIM# 276700 Tags
Green Green List (high evidence)	FAM126A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 5 MIM#610532 Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group A, MIM# 227650 MONDO:0009215 Tags
Green Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group B, MIM#300514 Tags
Green Green List (high evidence)	FANCC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group C, MIM#227645 Tags
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group D2, MIM#227646 Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group E, MIM#600901 Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group F, MIM#603467 Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group G, MIM#614082 Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group I, MIM#609053 Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group L MIM#614083 Tags
Green Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006 Van Maldergem syndrome 2 MIM#615546 Tags
Green Green List (high evidence)	FBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fructose-1,6-bisphosphatase deficiency, MIM#229700 Tags
Green Green List (high evidence)	FBXO7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Parkinson disease 15, autosomal recessive, MIM#260300 Tags
Green Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fumarase deficiency, MIM# 606812 Tags
Green Green List (high evidence)	FHL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Tags
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bruck syndrome 1, MIM#259450 osteogenesis imperfecta, type XI, MIM#610968 Tags
Green Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153) Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155) Tags
Green Green List (high evidence)	FKTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Frontometaphyseal dysplasia 1, MIM#305620 Heterotopia, periventricular, 1, MIM#300049 Intestinal pseudoobstruction, neuronal, MIM#300048 Melnick-Needles syndrome, MIM#309350 Otopalatodigital syndrome, type I, MIM#311300 Otopalatodigital syndrome, type II, MIM#304120 Terminal osseous dysplasia, MIM#300244 Tags
Green Green List (high evidence)	FMR1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fragile X syndrome, MIM #300624 Tags
Green Green List (high evidence)	FOXN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705 Tags
Green Green List (high evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241 Tags
Green Green List (high evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fraser syndrome 1 MIM#219000 Tags
Green Green List (high evidence)	FREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fraser syndrome, MIM#219000 Tags
Green Green List (high evidence)	FTSJ1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 9 MIM#309549 Tags
Green Green List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fucosidosis, MIM# 230000 Tags
Green Green List (high evidence)	G6PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease Ia (MIM# 232200) Tags
Green Green List (high evidence)	G6PC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dursun syndrome, MIM# 612541 Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 Tags
Green Green List (high evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease II, MIM#232300 Tags
Green Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Krabbe disease, MIM# 245200 MONDO:0009499 Tags
Green Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis IVA, MIM#253000 Tags
Green Green List (high evidence)	GALT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galactosaemia MIM# 230400 Tags
Green Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 2 (MIM#612736) Tags
Green Green List (high evidence)	GATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 3 MIM#612718 AGAT deficiency MONDO:0012996 Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease IV, MIM#232500 Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric aciduria, type I, MIM#231670 Tags
Green Green List (high evidence)	GCH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninaemia, MIM#128230 Tags
Green Green List (high evidence)	GDAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706 Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340 Charcot-Marie-Tooth disease, type 4A, MIM#214400 Tags
Green Green List (high evidence)	GDF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Right atrial isomerism (Ivemark), MIM #208530 Tags
Green Green List (high evidence)	GDF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acromesomelic dysplasia 2A MIM#200700 Acromesomelic dysplasia 2B MIM#228900 Tags
Green Green List (high evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 1, MIM#609060 Tags
Green Green List (high evidence)	GHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Laron dwarfism, MIM#262500 Tags
Green Green List (high evidence)	GJB1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 Tags
Green Green List (high evidence)	GLA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fabry disease, MIM#301500 Tags
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GM1-gangliosidosis, type I MIM#230500 GM1-gangliosidosis, type II MIM#230600 GM1-gangliosidosis, type III MIM#230650 Mucopolysaccharidosis type IVB (Morquio) MIM#253010 Tags
Green Green List (high evidence)	GLDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycine encephalopathy1 (MIM#605899) Tags
Green Green List (high evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital arthrogryposis with anterior horn cell disease, MIM #611890 Lethal congenital contracture syndrome 1, MIM #253310 Tags
Green Green List (high evidence)	GNB5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182) Tags
Green Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rhizomelic chondrodysplasia punctata, type 2 (MIM# 222765) Tags
Green Green List (high evidence)	GNPTAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucolipidosis III alpha/beta MIM#252600 Mucolipidosis II alpha/beta MIM#252500 Tags
Green Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucolipidosis III gamma, MIM# 252605 Tags
Green Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIID, MIM# 252940 Sanfilippo syndrome type D, MONDO:0009658 Tags
Green Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Geroderma osteodysplasticum, MIM#231070 MONDO:0009271 Tags
Green Green List (high evidence)	GPC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Simpson-Golabi-Behmel syndrome, type 1, MIM #312870 Tags
Green Green List (high evidence)	GPSM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chudley-McCullough syndrome MIM#604213 Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutathione synthetase deficiency MIM#266130 Tags
Green Green List (high evidence)	GUCY2D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 1, MIM #204000 Tags
Green Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis VII, MIM# 253220 Tags
Green Green List (high evidence)	HADH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Tags
Green Green List (high evidence)	HADHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency 1 MIM#609015 Tags
Green Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial trifunctional protein deficiency 2 MIM#620300 Tags
Green Green List (high evidence)	HAMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemochromatosis, type 2B MIM#613313 Tags
Green Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neutropenia, severe congenital 3, autosomal recessive, MIM#610738 Tags
Green Green List (high evidence)	HBB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sickle cell anaemia, MIM# 603903 Tags
Green Green List (high evidence)	HCFC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541 Tags
Green Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tay-Sachs disease, MIM#272800 Tags
Green Green List (high evidence)	HEXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800 Tags
Green Green List (high evidence)	HFE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemochromatosis, type 2A, MIM#602390 Tags
Green Green List (high evidence)	HGSNAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930 Retinitis pigmentosa 73, MIM#616544 Tags
Green Green List (high evidence)	HIBCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620 Tags
Green Green List (high evidence)	HLCS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Holocarboxylase synthetase deficiency MIM#253270 Tags
Green Green List (high evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes HMG-CoA lyase deficiency, MIM# 246450 Tags
Green Green List (high evidence)	HMGCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes HMG-CoA synthase-2 deficiency, MIM#605911 Tags
Green Green List (high evidence)	HPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tyrosinaemia, type III, MIM#276710 Tags
Green Green List (high evidence)	HPRT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lesch-Nyhan syndrome (MIM#300322) Tags
Green Green List (high evidence)	HPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 1, MIM#203300 Tags
Green Green List (high evidence)	HPS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 3 MIM#614072 Tags
Green Green List (high evidence)	HPS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 4, MIM #614073 Tags
Green Green List (high evidence)	HPS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 5 MIM#614074 Tags
Green Green List (high evidence)	HPS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 6, MIM# 614075 Tags
Green Green List (high evidence)	HSD17B10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes HSD10 mitochondrial disease, MIM#300438 Tags
Green Green List (high evidence)	HSD17B4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes D-bifunctional protein deficiency, MIM#261515 Tags
Green Green List (high evidence)	HSD3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810 Tags
Green Green List (high evidence)	HUWE1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590 Tags
Green Green List (high evidence)	HYLS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrolethalus syndrome (MIM#236680) Ciliopathy Tags
Green Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis II, MIM# 309900 Hunter syndrome, MONDO:0010674 Tags
Green Green List (high evidence)	IDUA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis Ih, MIM#607014 Tags
Green Green List (high evidence)	IGHMBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320 Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155 Tags
Green Green List (high evidence)	IKBKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 15, MIM#615592 Tags
Green Green List (high evidence)	IL1RAPL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 21, MIM#300143 Tags
Green Green List (high evidence)	IL2RG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, X-linked, MIM#300400 Tags
Green Green List (high evidence)	IL7R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes severe combined immunodeficiency 104 MIM#608971 Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 1, MIM# 213300 MONDO:0008944 Tags
Green Green List (high evidence)	INVS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 2, infantile, (MIM#602088) Tags
Green Green List (high evidence)	IQSEC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 1 MIM#309530 Tags
Green Green List (high evidence)	ITGA6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817) Tags
Green Green List (high evidence)	ITGB4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730 Tags
Green Green List (high evidence)	ITPR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Gillespie syndrome, MIM# 206700 Tags
Green Green List (high evidence)	IVD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Isovaleric acidemia, MIM #243500 Tags
Green Green List (high evidence)	JAK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type MIM#600802 Tags
Green Green List (high evidence)	KATNB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 6, with microcephaly, MIM#616212 Tags
Green Green List (high evidence)	KCNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bartter syndrome, type 2, MIM#241200 Tags
Green Green List (high evidence)	KCNJ11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 2, MIM#601820 Tags
Green Green List (high evidence)	KCNQ1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jervell and Lange-Nielsen syndrome MIM#220400 Tags
Green Green List (high evidence)	KDM5C	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM#300534 Tags
Green Green List (high evidence)	KIF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 30, autosomal recessive, MIM#610357 Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Al-Gazali-Bakalinova syndrome MIM#607131 Hydrolethalus syndrome 2 MIM#614120 Acrocallosal syndrome MIM#200990 Joubert syndrome 12 MIM#200990 Tags
Green Green List (high evidence)	KRT14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001 MONDO:0010976 Tags
Green Green List (high evidence)	L1CAM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MASA syndrome, MIM#303350 Hydrocephalus, congenital, X-linked, MIM#307000 Tags
Green Green List (high evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes L-2-hydroxyglutaric aciduria, MIM#236792 Tags
Green Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green Green List (high evidence)	LAMA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 2B, severe (MIM#619784) 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660) Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783) Tags
Green Green List (high evidence)	LAMB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 5 MIM#615191 Tags
Green Green List (high evidence)	LAMB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pierson syndrome, MIM# 609049 Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 Tags
Green Green List (high evidence)	LAMB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 1A, intermediate MIM#226650 Epidermolysis bullosa, junctional 1B, severe MIM#226700 Tags
Green Green List (high evidence)	LAMC2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 3B, severe MIM #619786 Epidermolysis bullosa, junctional 3A, intermediate MIM #619785 Tags
Green Green List (high evidence)	LARGE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, MIM #608840 Tags
Green Green List (high evidence)	LARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Tags new gene name
Green Green List (high evidence)	LCA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 5, MIM# 604537 Tags
Green Green List (high evidence)	LDLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypercholesterolaemia, familial, 1, MIM# 143890 Tags
Green Green List (high evidence)	LDLRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Familial hypercholesterolemia 4, MIM#603813 Tags
Green Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined, 3 (MIM# 221750) Tags
Green Green List (high evidence)	LIFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559 Tags
Green Green List (high evidence)	LIG4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 Tags
Green Green List (high evidence)	LIPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolman disease, MIM#620151 Cholesteryl ester storage disease, MIM#278000 Tags
Green Green List (high evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380 Tags
Green Green List (high evidence)	LMNA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Restrictive dermopathy, lethal, MIM#275210 Mandibuloacral dysplasia, MIM# 248370 Tags
Green Green List (high evidence)	LPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipoprotein lipase deficiency MIM#238600 Tags
Green Green List (high evidence)	LRAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinal dystrophy, early-onset severe Leber congenital amaurosis 14 Retinitis pigmentosa, juvenile, all under MIM #613341 Tags
Green Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Donnai-Barrow syndrome, MIM #222448 Tags
Green Green List (high evidence)	LRPPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 220111 (3) Tags
Green Green List (high evidence)	LYST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chediak-Higashi syndrome MIM#214500 Tags
Green Green List (high evidence)	LZTFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 17 MIM#615994 MONDO:0014445 Tags
Green Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags
Green Green List (high evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mannosidosis, beta, MIM#248510 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3MC syndrome 1, MIM# 257920 Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucolipidosis IV MIM#252650 Tags
Green Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 1, primary, autosomal recessive, MIM#251200 Tags
Green Green List (high evidence)	MECP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Encephalopathy, neonatal severe MIM#300673 Intellectual developmental disorder, X-linked syndromic 13 MIM#300055 Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260 Tags
Green Green List (high evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MED12-related intellectual disability syndrome, MONDO:0100000 Tags
Green Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green Green List (high evidence)	MESP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylocostal dysostosis 2, MIM #608681 Tags
Green Green List (high evidence)	METTL23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 44, MIM #615942 Tags
Green Green List (high evidence)	MFN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800 Tags
Green Green List (high evidence)	MFSD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 MONDO:0012588 Tags
Green Green List (high evidence)	MID1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Opitz GBBB syndrome MIM#300000 MONDO:0017138 Tags
Green Green List (high evidence)	MKKS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 6 MIM#605231 McKusick-Kaufman syndrome MIM#236700 MKKS-related ciliopathy MONDO:1040050 Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 13 MIM#615990 Joubert syndrome 28 MIM#617121 Meckel syndrome 1 MIM#249000 Ciliopathy MONDO:0005308 Tags
Green Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004 Tags
Green Green List (high evidence)	MLYCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Malonyl-CoA decarboxylase deficiency, MIM#248360 Tags
Green Green List (high evidence)	MMAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 Tags
Green Green List (high evidence)	MMAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110 Tags
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Tags
Green Green List (high evidence)	MMADHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism Tags
Green Green List (high evidence)	MOCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency A (MIM#252150) Tags
Green Green List (high evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency B (MIM#252160) Tags
Green Green List (high evidence)	MPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 Tags
Green Green List (high evidence)	MPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498 Tags
Green Green List (high evidence)	MPV17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810 Tags
Green Green List (high evidence)	MRE11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia-telangiectasia-like disorder, MIM#604391 Tags
Green Green List (high evidence)	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 15, MIM#614947 Tags
Green Green List (high evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria due to MTHFR deficiency, MIM# 236250 Tags
Green Green List (high evidence)	MTM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, centronuclear, X-linked MIM#310400 Tags
Green Green List (high evidence)	MTMR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 4B1, MIM#601382 Tags
Green Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, MIM #236270 Tags
Green Green List (high evidence)	MTTP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Abetalipoproteinaemia MIM#200100 Tags
Green Green List (high evidence)	MUSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fetal akinesia deformation sequence 1 MIM#208150 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325 Tags
Green Green List (high evidence)	MUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags
Green Green List (high evidence)	MVK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mevalonic aciduria, MIM#610377 Hyper-IgD syndrome, MIM#260920 Tags
Green Green List (high evidence)	MYO5B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic, 10, MIM#619868 Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850 Tags
Green Green List (high evidence)	MYO7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1B, MIM# 276900 Tags
Green Green List (high evidence)	NAGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schindler disease, type I MIM#609241 Schindler disease, type III MIM#609241 Tags
Green Green List (high evidence)	NAGLU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920 Tags
Green Green List (high evidence)	NAGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes N-acetylglutamate synthase deficiency MIM#237310 Tags
Green Green List (high evidence)	NALCN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) Tags
Green Green List (high evidence)	NARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547 Tags
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nijmegen breakage syndrome (MIM#251260) Tags
Green Green List (high evidence)	NCF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Tags
Green Green List (high evidence)	NDE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 4 (with microcephaly), MIM#614019 Tags
Green Green List (high evidence)	NDP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Norrie disease, MIM# 310600 Tags
Green Green List (high evidence)	NDRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 4D MIM#601455 Tags
Green Green List (high evidence)	NDUFAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 Tags
Green Green List (high evidence)	NDUFAF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 16 MIM#618238 Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 1, MIM#252010 Tags
Green Green List (high evidence)	NDUFS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232) Tags
Green Green List (high evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NEB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis multiplex congenita 6 (MIM#619334) Nemaline myopathy 2, autosomal recessive (MIM#256030) Tags
Green Green List (high evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sialidosis, type I, MIM #256550 Sialidosis, type II, MIM #256550 Tags
Green Green List (high evidence)	NGLY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of deglycosylation, MIM#615273 Tags
Green Green List (high evidence)	NNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 MONDO:0013874 Tags
Green Green List (high evidence)	NPC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-Pick disease, type C1, MIM#257220 Tags
Green Green List (high evidence)	NPC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-pick disease, type C2, MIM#607625 Tags
Green Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 1, juvenile MIM#256100 Joubert syndrome 4 MIM#609583 Senior-Loken syndrome-1 MIM#266900 Tags
Green Green List (high evidence)	NPHP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal-hepatic-pancreatic dysplasia 1 MIM#208540 Meckel syndrome 7 MIM#267010 Nephronophthisis 3 MIM#604387 Tags
Green Green List (high evidence)	NPHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephrotic syndrome, type 1, MIM# 256300 congenital nephrotic syndrome, Finnish type MONDO:0009732 Tags
Green Green List (high evidence)	NPHS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephrotic syndrome, type 2 MIM#600995 Tags
Green Green List (high evidence)	NR0B1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal hypoplasia, congenital, MIM#300200 Tags
Green Green List (high evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Insensitivity to pain, congenital, with anhidrosis MIM#256800 Tags
Green Green List (high evidence)	OCRL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dent disease 2 MIM#300555 Lowe syndrome MIM#309000 Tags
Green Green List (high evidence)	OFD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 10 MIM#300804 Simpson-Golabi-Behmel syndrome, type 2 MIM#300209 Retinitis pigmentosa 23 MIM#300424 Tags
Green Green List (high evidence)	OPA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Behr syndrome, MIM#210000 Tags
Green Green List (high evidence)	OPA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria, type III MIM#258501 3-methylglutaconic aciduria type 3 MONDO:0009787 Tags
Green Green List (high evidence)	OPHN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337 Tags
Green Green List (high evidence)	OSGEP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galloway-Mowat syndrome 3, MIM# 617729 Tags
Green Green List (high evidence)	OSTM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 5, MIM#259720 Tags
Green Green List (high evidence)	OTC	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ornithine transcarbamylase deficiency, MIM# 311250 Tags
Green Green List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type VIII, MIM#610915 Tags
Green Green List (high evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phenylketonuria, MIM#261600 Tags
Green Green List (high evidence)	PAK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 30 MIM#300558 Tags
Green Green List (high evidence)	PANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes HARP syndrome (MIM#607236) Neurodegeneration with brain iron accumulation 1 (MIM#234200) Tags
Green Green List (high evidence)	PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate carboxylase deficiency (MIM#266150) Tags
Green Green List (high evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Propionicacidaemia, MIM#606054 Tags
Green Green List (high evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Propionicacidemia MIM#606054 propionic acidemia MONDO:0011628 Tags
Green Green List (high evidence)	PCDH15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1F, MIM# 602083 Tags
Green Green List (high evidence)	PCDH19	2 reviews 1 green	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 Phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088) Tags
Green Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720 MONDO:0008872 Tags
Green Green List (high evidence)	PDHA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) Tags
Green Green List (high evidence)	PDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate dehydrogenase E1-beta deficiency, MIM #614111 Tags
Green Green List (high evidence)	PEPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Prolidase deficiency, MIM# 170100 Tags
Green Green List (high evidence)	PET100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100 Heimler syndrome 1, MIM #234580 Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539 MONDO:0100259 Tags
Green Green List (high evidence)	PEX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870 Peroxisome biogenesis disorder 6B MIM#614871 Tags
Green Green List (high evidence)	PEX12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859 Peroxisome biogenesis disorder 3B, MIM#266510 Tags
Green Green List (high evidence)	PEX13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883 Peroxisome biogenesis disorder 11B, MIM#614885 Tags
Green Green List (high evidence)	PEX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Peroxisome biogenesis disorder 8B MIM#614877 Tags
Green Green List (high evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866 Peroxisome biogenesis disorder 5B, MIM#614867 Tags
Green Green List (high evidence)	PEX26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938 Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939 Tags
Green Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), MIM#214110 Tags
Green Green List (high evidence)	PEX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 Peroxisome biogenesis disorder-4B, MIM# 614863 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Tags
Green Green List (high evidence)	PFKM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease VII MIM#232800 Tags
Green Green List (high evidence)	PGAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207 Tags
Green Green List (high evidence)	PGK1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Phosphoglycerate kinase 1 deficiency (MIM#300653) Tags
Green Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type It (MIM#614921) Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 23, MIM# 615816 Tags
Green Green List (high evidence)	PHF8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM# 300263 Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neu-Laxova syndrome 1 MIM#256520 Phosphoglycerate dehydrogenase deficiency MIM#601815 Tags
Green Green List (high evidence)	PHYH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Refsum disease MIM#266500 Tags
Green Green List (high evidence)	PIBF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 33 (MIM#617767) Tags
Green Green List (high evidence)	PIGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 Tags
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1,MIM#614080 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PKHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polycystic kidney disease 4, with or without hepatic disease MIM#263200 Tags
Green Green List (high evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration with brain iron accumulation 2B MIM#610217 Infantile neuroaxonal dystrophy 1 MIM#256600 Tags
Green Green List (high evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400 Tags
Green Green List (high evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714 Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733 Tags
Green Green List (high evidence)	PLPBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, early-onset, vitamin B6-dependent, MIM#617290 Tags
Green Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ia (MIM#212065) Tags
Green Green List (high evidence)	PNKP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia-oculomotor apraxia 4, MIM# 616267 Microcephaly, seizures, and developmental delay, MIM# 613402 Tags
Green Green List (high evidence)	PNPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency MIM#610090 Tags
Green Green List (high evidence)	POLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 11 MIM#616494 Treacher Collins syndrome 3 MIM#248390 Tags
Green Green List (high evidence)	POLR3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381 Tags
Green Green List (high evidence)	POMGNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#61315 Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy caused by variation in POMT1 MONDO:0700070 Tags
Green Green List (high evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156 Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750) Tags
Green Green List (high evidence)	POU1F1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined or isolated, 1, MIM#613038 Tags
Green Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 Tags
Green Green List (high evidence)	PQBP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Renpenning syndrome MIM#309500 Tags
Green Green List (high evidence)	PRDM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brittle cornea syndrome 2, MIM#614170 Tags
Green Green List (high evidence)	PRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemophagocytic lymphohistiocytosis, familial, 2 MIM#603553 Tags
Green Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined, 2, MIM#262600 Tags
Green Green List (high evidence)	PRPS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes PRPS1 deficiency disorder MONDO:0100061 Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395 Tags
Green Green List (high evidence)	PSAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900 Combined SAP deficiency, MIM #611721 Gaucher disease, atypical, MIM #610539 Krabbe disease, atypical, MIM #611722 Tags
Green Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 BH4-deficient hyperphenylalaninemia A, MONDO:0009863 Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Tags
Green Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninaemia, BH4-deficient, C, MIM# 261630 Tags
Green Green List (high evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warburg micro syndrome 3 MIM#614222 Tags
Green Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carpenter syndrome MIM#201000 Tags
Green Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420 Tags
Green Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warburg micro syndrome MONDO:0016649 Tags
Green Green List (high evidence)	RAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889 Combined cellular and humoral immune defects with granulomas MIM# 233650 Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Tags
Green Green List (high evidence)	RAG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined cellular and humoral immune defects with granulomas (MIM#233650) Omenn syndrome (MIM#603554) Severe combined immunodeficiency, B cell-negative (MIM#601457) Tags
Green Green List (high evidence)	RAPSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326 Fetal akinesia deformation sequence 2 MIM#618388 Tags
Green Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 6, MIM#611523 Tags
Green Green List (high evidence)	RAX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microphthalmia, syndromic 16, MIM #611038 Tags
Green Green List (high evidence)	RBBP8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jawad syndrome MIM#251255 Seckel syndrome 2 MIM#606744 Tags
Green Green List (high evidence)	RDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 13, MIM#612712 Tags
Green Green List (high evidence)	RMND1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 11, MIM#614922 Tags
Green Green List (high evidence)	RMRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cartilage-hair hypoplasia MIM#250250 Anauxetic dysplasia 1, MIM#607095 Metaphyseal dysplasia without hypotrichosis MIM#250460 Tags
Green Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 4 MIM#610333 RNASEH2A-related type 1 interferonopathy MONDO:0700259 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 2 MIM#610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 2, MIM #312600 Tags
Green Green List (high evidence)	RPE65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 20, MIM#613794 Leber congenital amaurosis 2, MIM#204100 Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 COACH syndrome 3, MIM# 619113 Ciliopathy, RPGRIP1L-related, MONDO:0005308 Tags
Green Green List (high evidence)	RPS6KA3	1 review 1 green	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 Mackenzie's Mission Phenotypes Coffin-Lowry syndrome, MIM#303600 Intellectual developmental disorder, X-linked 19 MIM#300844 Tags
Green Green List (high evidence)	RTEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, autosomal recessive 5, MIM#615190 Tags
Green Green List (high evidence)	RYR1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Central core disease (MIM#117000) Minicore myopathy with external ophthalmoplegia (MIM#255320) Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000) Tags
Green Green List (high evidence)	SACS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic ataxia, Charlevoix-Saguenay type, MIM#270550 Tags SV/CNV
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SC5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lathosterolosis, MIM#607330 Tags
Green Green List (high evidence)	SCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377 Tags
Green Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 16 (MIM# 615993) Senior-Loken syndrome 7 (MIM# 613615) Tags
Green Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyserythropoietic anemia, congenital, type II MIM#224100 Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 2D, MIM# 613811 Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green Green List (high evidence)	SERPINH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type X, MIM# 613848 Osteogenesis imperfecta type 10, MONDO:0013459 Tags
Green Green List (high evidence)	SGCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968 Tags
Green Green List (high evidence)	SGCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286 Tags
Green Green List (high evidence)	SGCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 Tags
Green Green List (high evidence)	SGCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700 Tags
Green Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 MONDO:0009655 Tags
Green Green List (high evidence)	SH3TC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 4C MIM#601596 Tags
Green Green List (high evidence)	SKIV2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602 Tags
Green Green List (high evidence)	SLC12A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bartter syndrome, type 1, MIM#601678 Tags
Green Green List (high evidence)	SLC12A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000 Tags
Green Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Allan-Herndon-Dudley syndrome, MIM #300523 Tags
Green Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sialic acid storage disorder, infantile (MIM#269920) Tags
Green Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM#249270 Tags
Green Green List (high evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 Tags
Green Green List (high evidence)	SLC22A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 Tags
Green Green List (high evidence)	SLC25A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, MIM#615182 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197 Tags
Green Green List (high evidence)	SLC25A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinemia, type II, neonatal-onset, MIM#605814 Tags
Green Green List (high evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Tags
Green Green List (high evidence)	SLC26A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achondrogenesis Ib MIM#600972 Atelosteogenesis, type II MIM#256050 De la Chapelle dysplasia MIM#256050 Diastrophic dysplasia MIM#222600 Diastrophic dysplasia, broad bone-platyspondylic variant MIM#222600 Epiphyseal dysplasia, multiple, 4 MIM#226900 Tags
Green Green List (high evidence)	SLC26A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diarrhea 1, secretory chloride, congenital, 214700 (3) Tags
Green Green List (high evidence)	SLC35A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, impaired intellectual development, and seizures MIM#615553 Tags
Green Green List (high evidence)	SLC37A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease Ib MIM#232220 Glycogen storage disease Ic MIM#232240 Glycogen Storage Disease I MONDO:0002413 Tags
Green Green List (high evidence)	SLC38A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis (MIM#609218) Tags
Green Green List (high evidence)	SLC39A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acrodermatitis enteropathica, MIM# 201100 Tags
Green Green List (high evidence)	SLC45A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type IV MIM#606574 Tags
Green Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags
Green Green List (high evidence)	SLC52A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags
Green Green List (high evidence)	SLC52A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM#211530 Tags
Green Green List (high evidence)	SLC6A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperekplexia 3, MIM#614618 Tags
Green Green List (high evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 1, MIM#300352 Tags
Green Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lysinuric protein intolerance, MIM#222700 Tags
Green Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schimke immunoosseous dysplasia, MIM# 242900 Tags
Green Green List (high evidence)	SMN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669 Tags
Green Green List (high evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-Pick disease, type A, MIM#257200 Niemann-Pick disease, type B, MIM#607616 Tags
Green Green List (high evidence)	SNAP29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Tags
Green Green List (high evidence)	SPATA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name
Green Green List (high evidence)	SPG11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green Green List (high evidence)	SPINK5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Netherton syndrome, MIM#256500 Tags
Green Green List (high evidence)	SPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716 Tags
Green Green List (high evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Salt and pepper developmental regression syndrome, MIM# 609056 Tags
Green Green List (high evidence)	STAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipoid adrenal hyperplasia MIM#201710 Tags
Green Green List (high evidence)	STX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 Tags
Green Green List (high evidence)	STXBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101 Tags
Green Green List (high evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple sulfatase deficiency, MIM#272200 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sulfite oxidase deficiency, MIM#272300 Tags
Green Green List (high evidence)	SURF1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110 Tags
Green Green List (high evidence)	SYN1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491 Intellectual developmental disorder, X-linked 50, MIM#300115 Tags
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878 Tags SV/CNV
Green Green List (high evidence)	TAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tyrosinaemia, type II, MIM# 276600, MONDO:0010160 Tags
Green Green List (high evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Barth syndrome, MIM#302060 Tags
Green Green List (high evidence)	TBC1D23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 11 MIM#617695 Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 16 MIM#615338 DOORS syndrome MIM#220500 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105 Myoclonic epilepsy, infantile, familial MIM#605021 Tags
Green Green List (high evidence)	TBCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207 Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410 Kenny-Caffey syndrome, type 1 MIM#244460 Tags
Green Green List (high evidence)	TCIRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 1 MIM#259700 Tags
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Transcobalamin II deficiency MIM#275350 Tags
Green Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896 Orofaciodigital syndrome IV, MIM# 258860 MONDO:0009794 Tags
Green Green List (high evidence)	TECPR2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 Tags
Green Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes You-Hoover-Fong syndrome, MIM#616954 Tags
Green Green List (high evidence)	TF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Atransferrinaemia MIM#209300 Tags
Green Green List (high evidence)	TGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 1, MIM#242300 Tags
Green Green List (high evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Segawa syndrome, recessive, MIM# 605407 Tags
Green Green List (high evidence)	THOC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 12 MIM#300957 Tags
Green Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560 Tags
Green Green List (high evidence)	TMEM138	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 16, MIM#614465 Tags
Green Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 2, MIM#608091 Meckel syndrome 2, MIM#603194 Retinitis pigmentosa 98, MIM#620996 ciliopathy MONDO:0005308 Tags
Green Green List (high evidence)	TMEM231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 20, MIM#614970 Meckel syndrome 11, MIM#615397 Tags
Green Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 14, MIM#614424 Tags
Green Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes COACH syndrome 1 MIM#216360 Joubert syndrome 6 MIM#610688 Meckel syndrome 3 MIM#607361 Nephronophthisis 11 MIM#613550 Tags
Green Green List (high evidence)	TMTC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 8 MIM#617255, MONDO:0014992 Tags
Green Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 7 MIM#614969 Tags
Green Green List (high evidence)	TPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 Spinocerebellar ataxia, autosomal recessive 7 MIM#609270 Tags
Green Green List (high evidence)	TRDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441 Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 Tags
Green Green List (high evidence)	TREX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165 Tags
Green Green List (high evidence)	TRIM32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110 Tags
Green Green List (high evidence)	TRIM37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mulibrey nanism MIM#253250 Tags
Green Green List (high evidence)	TRMU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Liver failure, transient infantile MIM# 613070 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111 Tags
Green Green List (high evidence)	TRPM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypomagnesemia 1, intestinal MIM#602014 Tags
Green Green List (high evidence)	TSEN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 2B, MIM #612389 Tags
Green Green List (high evidence)	TSEN54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 2A (MIM#277470) Pontocerebellar hypoplasia type 4 (MIM#225753) ?Pontocerebellar hypoplasia type 5 (MIM#610204) Tags
Green Green List (high evidence)	TSFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green Green List (high evidence)	TSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypothyroidism, congenital, nongoitrous 4 MIM#275100 Tags
Green Green List (high evidence)	TTC37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 1 MIM#222470 Tags
Green Green List (high evidence)	TTC7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 8, MIM #615985 Tags
Green Green List (high evidence)	TTPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia with isolated vitamin E deficiency MIM#277460 Tags
Green Green List (high evidence)	TULP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 15, MIM#613843 Retinitis pigmentosa 14, MIM#600132 Tags
Green Green List (high evidence)	TWNK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245 Perrault syndrome 5, MIM#616138 Tags
Green Green List (high evidence)	TYMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041 Tags
Green Green List (high evidence)	TYR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Oculocutaneous albinism type 1 (MONDO:0018135) Albinism, oculocutaneous, type IA, MIM#203100 Albinism, oculocutaneous, type IB, MIM#606952 Tags
Green Green List (high evidence)	TYRP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type III MIM#203290 Tags
Green Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 44, MIM#617132 Tags
Green Green List (high evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group T MIM#616435 Tags
Green Green List (high evidence)	UBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Johanson-Blizzard syndrome MIM#243800 Tags
Green Green List (high evidence)	UGT1A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type I MIM#218800 Crigler-Najjar syndrome, type II MIM#606785 Tags
Green Green List (high evidence)	UNC13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 Tags
Green Green List (high evidence)	UPF3B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic 14 MIM#300676 Tags
Green Green List (high evidence)	USH1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1C MIM# 276904, MONDO:0010171 Tags
Green Green List (high evidence)	USH1G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1G MIM#606943 Tags
Green Green List (high evidence)	USH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 2A, MIM#276901 Tags
Green Green List (high evidence)	USP9X	2 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 Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 99, MIM#300919 Tags
Green Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1, MIM#224050 Tags
Green Green List (high evidence)	VPS11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 12 MIM#616683 Tags
Green Green List (high evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cohen syndrome, MIM# 216550 Tags
Green Green List (high evidence)	VPS45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Tags
Green Green List (high evidence)	VPS53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 2E, MIM#615851 Tags
Green Green List (high evidence)	VRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866 Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 Tags
Green Green List (high evidence)	VSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microphthalmia with coloboma 3, MIM# 610092 Microphthalmia, isolated 2, MIM# 610093 Tags
Green Green List (high evidence)	WAS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Neutropenia, severe congenital, X-linked, MIM#300299 Thrombocytopenia, X-linked, MIM#313900 Wiskott-Aldrich syndrome, MIM#301000 Tags
Green Green List (high evidence)	WDR34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287 Tags
Green Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317 Tags
Green Green List (high evidence)	WDR81	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430 Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794 Tags
Green Green List (high evidence)	WHRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 2D MIM#611383 Tags
Green Green List (high evidence)	WISP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Progressive pseudorheumatoid dysplasia MIM#208230 Tags
Green Green List (high evidence)	WRN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Werner syndrome, MIM#277700 Tags
Green Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322 Developmental and epileptic encephalopathy 28, MIM# 616211 Tags
Green Green List (high evidence)	XIAP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lymphoproliferative syndorme, X-linked, 2 MIM#300635 Tags
Green Green List (high evidence)	XPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group A , MIM#278700 Tags
Green Green List (high evidence)	XPC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group C, MIM#278720 Tags
Green Green List (high evidence)	YARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Tags
Green Green List (high evidence)	ZBTB24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069 MONDO:0013553 Tags
Green Green List (high evidence)	ZDHHC9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427 Tags SV/CNV
Green Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 15, autosomal recessive MIM#270700 Tags
Green Green List (high evidence)	ZNF711	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 97, MIM# 300803 Tags
Amber Amber List (moderate evidence)	CLN3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 MONDO:0008767 Tags
Red Red List (low evidence)	GNE	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Nonaka myopathy MIM#605820 Thrombocytopenia 12 with or without myopathy MIM#620757 Tags
Red Red List (low evidence)	GPR143	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Phenotypes Nystagmus 6, congenital, X-linked, MIM#300814 Ocular albinism, type I, Nettleship-Falls type, MIM#300500 Tags

Major version comments

2025-05-29 16:52 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 2.0
Revised and promoted to V2.

2023-11-10 05:24 Seb Lunke (Victorian Clinical Genetics Services) promoted panel to 1.0
Version 1 of prepair 500+

Prepair 500+ (Version 2.0)

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