Prepair 500+ (Version 1.165)

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

19 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)
Crystle Lee (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Melanie Marty (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)
Shakira Heerah (Victorian Clinical Genetics Services)
Lauren Thomas (VIctorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Kate Scarff (Victorian Clinical Genetics Services)
Cassandra Muller (Victorian Clinical Genetics Services)

629 Entities

629 reviewed, 627 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, 308230 (3) 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, 601067 (3) 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, autosomal recessive, 608393 (3) Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Seckel syndrome 5, 613823 (3) Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 5, 610188 (3) 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, 614464 (3) 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, 219700 (3) 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, 254210 (3) 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, 605809 (3) 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, 265000 (3) Tags
Green Green List (high evidence)	CIITA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) 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, 272440 (3) 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, 300009 (3) 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, 611490 (3) 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, 256731 (3) 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, 601780 (3) 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, 600143 (3) 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, 615803 (3) 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 VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) 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, 276902 (3) Tags
Green Green List (high evidence)	CNGB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Macular degeneration, juvenile, 248200 (3) Tags
Green Green List (high evidence)	COL11A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fibrochondrogenesis 2, 614524 (3) 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, non-Herlitz type, 226650 (3) 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, 267750 (3) 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 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, autosomal recessive, 203780 (3) 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, autosomal recessive, 203780 (3) 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 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 1, 254090 (3) 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, AR, 226600 (3) 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, 265050 (3) 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, 603034 (3) Tags
Green Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) 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, 237300 (3) 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, 255120 (3) 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, lethal neonatal, 608836 (3) 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, 613835 (3) 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, 610682 (3) 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, 615636 (3) 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, 219800 (3) Tags
Green Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galactosialidosis, 256540 (3) Tags
Green Green List (high evidence)	CTSC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Papillon-Lefevre syndrome, 245000 (3) 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, 610127 (3) Tags
Green Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pycnodysostosis, 265800 (3) 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 Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) 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, autosomal, due to deficiency of CYBA, 233690 (3) Tags
Green Green List (high evidence)	CYBB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Chronic granulomatous disease, X-linked, 306400 (3) 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, 613743 (3) 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, 203400 (3) Tags
Green Green List (high evidence)	CYP17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 17,20-lyase deficiency, isolated, 202110 (3) Tags
Green Green List (high evidence)	CYP1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) 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, 213700 (3) 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, 613812 (3) 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, 600721 (3) 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, 248600 (3) 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, 241080 (3) 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, 602450 (3) 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, 300067 (3) 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, 608643 (3) 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, 613398 (3) Tags
Green Green List (high evidence)	DGAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes ?Diarrhea 7, protein-losing enteropathy type 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), 251880 (3) Tags
Green Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desmosterolosis, 602398 (3) 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, 270400 (3) 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, 613861 (3) 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, 267000 (3) 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, 305000 (3) 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, 246900 (3) 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 Mental retardation, X-linked 90, 300850 (3) 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, 277300 (3) 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, 310200 (3) 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, 611884 (3) 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, 608644 (3) 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, 244400 (3) 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, 612444 (3) 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, 242860 (3) 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, 614219 (3) 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, 254300 (3) 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, 223800 (3) 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, 613091 (3) Tags
Green Green List (high evidence)	DYSF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601 (3) 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, 616277 (3) 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, 305100 (3) 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, 226980 (3) 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, 603896 (3) 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, 603896 (3) 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, 603896 (3) Tags
Green Green List (high evidence)	EIF2B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephaly with vanishing white matter, 603896 (3) 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, 603896 (3) 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, 223900 (3) 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, 310300 (3) Tags
Green Green List (high evidence)	ENPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) 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, 242840 (3) 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, 610756 (3) 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, 615272 (3) Tags
Green Green List (high evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group G, 278780 (3) Tags
Green Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cockayne syndrome, type B, 133540 (3) 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, 216400 (3) Tags
Green Green List (high evidence)	ESCO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SC phocomelia syndrome, 269000 (3) 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, 231680 (3) 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, 231680 (3) 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, 231680 (3) 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, 602473 (3) 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, 225500 (3) 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, 225500 (3) 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, 614678 (3) 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, 616081 (3) 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) Dysprothrombinaemia, 613679 Tags
Green Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tyrosinemia, type I, 276700 (3) 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, 610532 (3) Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group A, 227650 (3) 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 anemia, complementation group B, 300514 (3) Tags
Green Green List (high evidence)	FANCC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group C, 227645 (3) Tags
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group D2, 227646 (3) Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group E, 600901 (3) Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group F, 603467 (3) Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group G, 614082 (3) Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group I, 609053 (3) Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group L, 614083 (3) 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, 616006 (3) 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, 229700 (3) 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, 260300 (3) 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, 606812 (3) 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 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) 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, 259450 (3) 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, 613153 (3) Tags
Green Green List (high evidence)	FKTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) 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 FG syndrome 2, 300321 (3) 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 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, 601705 (3) 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, 252010 (3) 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, 219000 (3) 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, 219000 (3) 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 Mental retardation, X-linked 9, 309549 (3) Tags
Green Green List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fucosidosis, 230000 (3) 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, 232200 (3) 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, 612541 (3) 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, 232300 (3) 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, 245200 (3) 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, 253000 (3) Tags
Green Green List (high evidence)	GALT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galactosemia, 230400 (3) 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, 612736 (3) 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, 612718 (3) 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, 232500 (3) Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaricaciduria, type I, 231670 (3) 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 hyperphenylalaninemia, 128230 (3) 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, recessive intermediate, A, 608340 (3) 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, 208530 (3) Tags
Green Green List (high evidence)	GDF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia, Grebe type, 200700 (3) 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, 609060 (3) 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, 262500 (3) 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 Mucopolysaccharidosis type IVB (Morquio), 253010 (3) Tags
Green Green List (high evidence)	GLDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycine encephalopathy, 605899 (3) Tags
Green Green List (high evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) Tags
Green Green List (high evidence)	GNB5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive Tags
Green Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) 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, 252600 (3) 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, 252605 (3) 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, 252940 (3) 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, 231070 (3) 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, 312870 (3) Tags
Green Green List (high evidence)	GPR143	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ocular albinism, type I, Nettleship-Falls type, 300500 (3) 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, 604213 (3) 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, 266130 (3) 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, 204000 (3) 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, 253220 (3) 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, 231530 (3) Tags
Green Green List (high evidence)	HADHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fatty liver, acute, of pregnancy, 609016 (3) Tags
Green Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trifunctional protein deficiency, 609015 (3) Tags
Green Green List (high evidence)	HAMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemochromatosis, type 2B, 613313 (3) 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, 610738 (3) Tags
Green Green List (high evidence)	HBB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thalassemias, beta-, 613985 (3) 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 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) 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, 272800 (3) 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, 268800 (3) Tags
Green Green List (high evidence)	HFE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemochromatosis, type 2A, 602390 (3) 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), 252930 (3) 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, 250620 (3) 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, 253270 (3) 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, 246450 (3) 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, 605911 (3) Tags
Green Green List (high evidence)	HPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tyrosinemia, type III, 276710 (3) 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, 300322 (3) 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, 203300 (3) 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, 614072 (3) 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, 614073 (3) 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, 614074 (3) 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, 614075 (3) 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 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, 261515 (3) Tags
Green Green List (high evidence)	HSD3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) 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 Mental retardation, X-linked syndromic, Turner type, 300706 (3) 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, 236680 (3) 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, 309900 (3) 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, 607014 (3) 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, type VI, 604320 (3) 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, 615592 (3) 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 Mental retardation, X-linked 21/34, 300143 (3) 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, 300400 (3) 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, 213300 (3) 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, 602088 (3) 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, with pyloric stenosis, 226730 (3) 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, with pyloric atresia, 226730 (3) 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, 206700 (3), Autosomal recessive 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, 243500 (3) Tags
Green Green List (high evidence)	JAK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) 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, 616212 (3) 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, 241200 (3) 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, 601820 (3) 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, 220400 (3) 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 Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) 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, 610357 (3) Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrolethalus syndrome 2, 614120 (3) 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, recessive 1, 601001 (3) 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, 303350 (3) 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, 236792 (3) 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, 607855 (3) 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, Herlitz type, 226700 (3) 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, 615191 (3) 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, 609049 (3) 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, Herlitz type, 226700 (3) 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, Herlitz type, 226700 (3) 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, 6, 613154 (3) 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
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, 604537 (3) Tags
Green Green List (high evidence)	LDLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LDL cholesterol level QTL2/Hypercholesterolemia, familial Tags
Green Green List (high evidence)	LDLRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypercholesterolemia, familial, autosomal recessive, 603813 (3) 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, 221750 (3) 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, 601559 (3) 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, 606593 (3) Tags
Green Green List (high evidence)	LIPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholesteryl ester storage disease, 278000 (3) 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, 277380 (3) 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, 275210 (3) 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, 238600 (3) Tags
Green Green List (high evidence)	LRAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 14, 613341 (3) 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, 222448 (3) Tags
Green Green List (high evidence)	LRPPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome, French-Canadian type, 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, 214500 (3) 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, 615994 (3) 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, 248500 (3) 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, 248510 (3) 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, 257920 (3) 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, 252650 (3) 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, 251200 (3) 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, 300673 (3) 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 Lujan-Fryns syndrome, 309520 (3) 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, 613668 (3) 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, autosomal recessive, 608681 (3) Tags
Green Green List (high evidence)	METTL23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, autosomal recessive 44, 615942 (3) Tags
Green Green List (high evidence)	MFN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive 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, 610951 (3) 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, type I, 300000 (3) Tags
Green Green List (high evidence)	MKKS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes McKusick-Kaufman syndrome, 236700 (3) Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Meckel syndrome 1, 249000 (3) 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, 604004 (3) 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, 248360 (3) 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, 251100 (3) 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, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) 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, 277400 (3) Tags
Green Green List (high evidence)	MMADHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) 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, 252150 (3) 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, 252160 (3) 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, 602579 (3) Tags
Green Green List (high evidence)	MPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3) Tags
Green Green List (high evidence)	MPV17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) 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, 604391 (3) 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, 614947 (3) 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, 236250 (3) 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 Myotubular myopathy, X-linked, 310400 (3) 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, 601382 (3) 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 anemia, cblG complementation type, 250940 (3) 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, 236270 (3) Tags
Green Green List (high evidence)	MTTP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Abetalipoproteinemia, 200100 (3) Tags
Green Green List (high evidence)	MUSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) 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, 251000 (3) 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, 610377 (3) Tags
Green Green List (high evidence)	MYO5B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microvillus inclusion disease, 251850 (3) 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, 276900 (3) 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, 609241 (3) 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), 252920 (3) 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, 237310 (3) 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, 615419 (3) 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, 616239 (3) 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, 251260 (3) 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 due to deficiency of NCF-2, 233710 (3) 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), 614019 (3) 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, 310600 (3) 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, 601455 (3) Tags
Green Green List (high evidence)	NDUFAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome, 256000 (3) 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 1 deficiency, 252010 (3) Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome, 256000 (3) 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, 252010 (3) Tags
Green Green List (high evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome, 256000 (3) 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, 252010 (3) 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, 256550 (3) 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, 615273 (3) 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, 614736 (3) 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 Joubert syndrome 4, 609583 (3) Tags
Green Green List (high evidence)	NPHP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Meckel syndrome 7, 267010 (3) 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, 256300 (3) 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, 600995 (3) 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 46XY sex reversal 2, dosage-sensitive, 300018 (3) 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, 256800 (3) 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 Lowe syndrome, 309000 (3) 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, 300804 (3) 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, 210000 (3), Autosomal recessive 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, 258501 (3) 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 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) 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, 259720 (3) 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, 311250 (3) 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, 610915 (3) Tags
Green Green List (high evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phenylketonuria, 261600 (3) 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 Mental retardation, X-linked 30/47, 300558 (3) Tags
Green Green List (high evidence)	PANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 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, 266150 (3) Tags
Green Green List (high evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Propionicacidemia, 606054 (3) Tags
Green Green List (high evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Propionicacidemia, 606054 (3) 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, 602083 (3) 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, 210720 (3) 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, 614111 (3) 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, 170100 (3) 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, 220110 (3) 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), 214100 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), 614870 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), 614859 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), 614883 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), 614876 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), 614866 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), 614872 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), 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), 614862 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) 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, 232800 (3) 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 mental retardation syndrome 3, 614207 (3) 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, 300653 (3) 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, 614921 (3) 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, 615816 (3) 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 Mental retardation syndrome, X-linked, Siderius type, 300263 (3) 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 syndrome1, 256520 (3) 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, 266500 (3) 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, 614080 (3) 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 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 and hepatic disease, 263200 (3) 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, type VI, 225400 (3) 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, 312080 (3) 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, 617290 (3), Autosomal recessive 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, 212065 (3) Tags
Green Green List (high evidence)	PNKP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, seizures, and developmental delay, 613402 (3) 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, 610090 (3) 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), 203700 (3) Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Treacher Collins syndrome 3, 248390 (3) 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, 614381 (3) 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 A, 3, 253280 (3) Tags
Green Green List (high evidence)	POMT1	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, 1, 236670 (3) 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, 613150 (3) 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, 201750 (3) 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, 1, 613038 (3) 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, 256730 (3) 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, 309500 (3) 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, 614170 (3) Tags
Green Green List (high evidence)	PRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) 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, 262600 (3) 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 Arts syndrome, 301835 (3) 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, 249900 (3) 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, 261640 (3) Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) Tags
Green Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) 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, 614222 (3) 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, 201000 (3) 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, 600118 (3) 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 2, 614225 (3) Tags
Green Green List (high evidence)	RAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3) Tags
Green Green List (high evidence)	RAG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3) Tags
Green Green List (high evidence)	RAPSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fetal akinesia deformation sequence, 208150 (3) 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, 611523 (3) Tags
Green Green List (high evidence)	RAX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microphthalmia, isolated 3, 611038 (3) Tags
Green Green List (high evidence)	RBBP8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Seckel syndrome 2, 606744 (3) 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, 612712 (3) 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, 614922 (3) 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, 250250 (3) 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, 610333 (3) 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, 610181 (3) 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, 610329 (3) 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, 312600 (3) Tags
Green Green List (high evidence)	RPE65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 2, 204100 (3) Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Meckel syndrome 5, 611561 (3) Tags
Green Green List (high evidence)	RPS6KA3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Coffin-Lowry syndrome 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, 615190 (3) 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 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, 270550 (3) Tags
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, 612952 (3) Tags
Green Green List (high evidence)	SC5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lathosterolosis, 607330 (3) Tags
Green Green List (high evidence)	SCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) 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, 615993 (3) 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, 224100 (3) 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, 613811 (3) 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, 614739 (3) Tags
Green Green List (high evidence)	SERPINH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orofaciodigital syndrome VI, 277170 (3) 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, type 2D, 608099 (3) 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, type 2E, 604286 (3) 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, type 2F, 601287 (3) 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, type 2C, 253700 (3) Tags
Green Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) 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, 601596 (3) 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, 614602 (3) 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, 601678 (3) 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, 218000 (3) 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 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, 269920 (3) 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, 249270 (3) 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), 607483 (3) 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, 616657 (3) 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, 212140 (3) 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, 615182 (3) 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, 605814 (3) 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, 238970 (3) 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, 600972 (3) 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, mental retardation, and seizures (MIM615553) 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, 232220 (3) 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, 609218 (3) 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, 201100 (3) 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, 606574 (3) 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, 229050 (3) 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, 614707 (3) 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, 211530 (3) 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, 614618 (3) 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, 300352 (3) 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, 222700 (3) 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, 242900 (3) 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, 253300 (3) 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, 257200 (3) 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, 609528 (3) Tags
Green Green List (high evidence)	SPATA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive 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, 256500 (3) 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, 612716 (3) 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, 609056 (3), Autosomal recessive 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, 201710 (3) Tags
Green Green List (high evidence)	STX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) Tags
Green Green List (high evidence)	STXBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) 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, 272200 (3) 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, 272300 (3) Tags
Green Green List (high evidence)	SURF1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome, due to COX deficiency, 256000 (3) 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, with variable learning disabilities and behavior disorders, 300491 (3) 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 Tags
Green Green List (high evidence)	TAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tyrosinemia, type II (MIM#276600) 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, 302060 (3) 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, 617695 (3), Autosomal recessive Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 16, 615338 (3) 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, 617193 (3), Autosomal recessive Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Kenny-Caffey syndrome-1, 244460 (3) 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, 259700 (3) 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, 275350 (3) 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 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, 614815 (3) 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, 616954 (3), Autosomal recessive Tags
Green Green List (high evidence)	TF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Atransferrinemia, 209300 (3) 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, 242300 (3) 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 Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive 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), 609560 (3) 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, 614465 (3) 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, 608091 (3) 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, 614970 (3) 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, 614424 (3) Tags
Green Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 6, 610688 (3) 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, 617255 (3), Autosomal recessive 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, 614969 (3), Autosomal recessive 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, 204500 (3) Tags
Green Green List (high evidence)	TRDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) 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, 225750 (3) 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, type 2H, 254110 (3) 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, 253250 (3) 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, 613070 (3) 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, 602014 (3) 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, 612389 (3) 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, 277470 (3) 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, 610505 (3) Tags
Green Green List (high evidence)	TSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypothryoidism, congenital, nongoitrous 4, 275100 (3) 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, 222470 (3) 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, 615985 (3) 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, 277460 (3) Tags
Green Green List (high evidence)	TULP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 14, 600132 (3) 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), 271245 (3) 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), 603041 (3) Tags
Green Green List (high evidence)	TYR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type IA, 203100 (3) 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, 203290 (3) Tags
Green Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive 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, 616435 (3) 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, 243800 (3) Tags
Green Green List (high evidence)	UGT1A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Crigler-Najjar syndrome, type I, 218800 (3) 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, 608898 (3) 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 Mental retardation, X-linked, syndromic 14, 300676 (3) 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, 276904 (3) 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, 606943 (3) 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, 276901 (3) Tags
Green Green List (high evidence)	USP9X	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 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 and mental retardation with or without quadrupedal locomotion 1, 224050 (3) 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, 616683 (3), Autosomal recessive 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, 216550 (3) Tags
Green Green List (high evidence)	VPS45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) 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, 615851 (3) 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, 607596 (3) 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, 610092 (3) 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 Wiskott-Aldrich syndrome, 301000 (3) 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, 615633 (3) 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, 604317 (3) 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, 610185 (3) 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, 611383 (3) Tags
Green Green List (high evidence)	WISP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) 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, 277700 (3) Tags
Green Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 28, 616211 (3) 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 syndrome, X-linked, 2, 300635 (3) 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, 278700 (3) 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, 278720 (3) 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, 613561 (3) 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, 614069 (3) 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 Mental retardation, X-linked syndromic, Raymond type, 300799 (3) Tags
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, 270700 (3) 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 Mental retardation, X-linked 97, 300803 (3) 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

Major version comments

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

Prepair 500+ (Version 1.165)

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