DDG2P (Version 3.90)

The latest signed off version for the GMS is v3.1. The current version, shown here, may differ from the signed-off version.

Description

This panel is a component of super panel 'R27 Paediatric disorders' and is not directly used for analysis in the NHS Genomic Medicine Service outside of this context. Changes made to this panel will automatically be updated in the relevant super panel(s).

This panel represents gene-disease associations from the Developmental Disorders (DD) panel in the Gene2Phenotype (G2P) database (DDG2P). The scope of the DD panel is ‘Severe undiagnosed neurodevelopmental disorder and/or congenital anomalies, abnormal growth parameters, dysmorphic features, and unusual behavioural phenotypes’.

More information about the G2P database can be found at https://www.ebi.ac.uk/gene2phenotype, and in the following publication: Thormann et al. 2019; doi: 10.1038/s41467-019-10016-3.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see ‘Latest signed off version’ in the panel header information).
Since the last NHS Genomic Medicine Service signed off version (v3.1), this panel has been updated using the DD panel download from the 28 July 2023 static release from G2P. Therefore, the latest signed off version does not yet contain these changes.

DDG2P confidence categories were mapped to PanelApp ratings as follows (after consultation with the G2P team and under NHS Genomic Medicine Service governance):
- Definitive, Strong and Moderate: Green rating.
- Limited: Red rating.
- Genes that were previously present but since removed from the DD panel were made Grey.

Additional Notes and Considerations for gene ratings:
- Where one gene was associated with multiple DDG2P disorders with different confidence categories, the highest DDG2P disease confidence was selected.
- Where one gene was associated with multiple DDG2P disorders with different confidence categories, the Mode of Inheritance (MOI) reflects the disorder(s) with the highest PanelApp rating (Green).
- DDG2P confidence categories, allelic requirements (MOIs) and mutation consequences (modes of Pathogenicity (MOPs)) are recorded as Comments within each gene.

Please note that the above criteria for mapping DDG2P confidence categories to PanelApp ratings are used from version 3.11 onwards. Previous versions of the panel were based on earlier DD panel downloads from G2P (downloaded 05 November 2019 or before). In these previous versions the DDG2P confidence categories that existed at that time were mapped to PanelApp ratings as follows:
- Confirmed: Green rating
- Both RD and IF: Green rating (formerly 'Both DD and IF')
- Child IF: Amber rating
- Probable: Amber rating
- Possible: Red rating

External reviews added to this panel will not be reviewed and curated as it represents the knowledge from an external resource. Reviewers are therefore recommended to add their comments to other relevant GMS panels. This panel will continue to be periodically updated to reflect changes made in the G2P database.

Some of the genes in this panel may cause conditions that typically present in adulthood. Please consider this when applying the panel.

Panel Activity

16 reviewers

Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Lu Raymond (university of cambridge )

Group: GeCIP domain
Workplace: Research lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
alisdair mcneill (Sheffield childrens hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Kate Downes (Uni of Cambridge / CUH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Irina Ziravecka (BKUS)

Group: Other
Workplace: Other

2350 Entities

2350 reviewed, 2014 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 2350 Entitiess
Green Green List (high evidence)	AAAS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550 Tags
Green Green List (high evidence)	AARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT Tags new-gene-name
Green Green List (high evidence)	AASS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Hyperlysinemia, OMIM:238700 Hyperlysinemia (disease), MONDO:0009388 Tags
Green Green List (high evidence)	ABAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ABAT-related GABA-transaminase Deficiency Tags
Green Green List (high evidence)	ABCB11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847 Tags
Green Green List (high evidence)	ABCB7	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310 Tags
Green Green List (high evidence)	ABCC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473 Tags
Green Green List (high evidence)	ABCC9	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850 Tags
Green Green List (high evidence)	ABCD1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADRENOLEUKODYSTROPHY, X-LINKED 300100 Tags
Green Green List (high evidence)	ABCD4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857 Tags
Green Green List (high evidence)	ABHD16A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum Tags
Green Green List (high evidence)	ABHD5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHANARIN-DORFMAN SYNDROME 275630 Tags
Green Green List (high evidence)	ABL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital heart defects and skeletal malformations 617602 Tags
Green Green List (high evidence)	ACAD9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126 Tags
Green Green List (high evidence)	ACADM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450 Tags
Green Green List (high evidence)	ACADS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470 Tags
Green Green List (high evidence)	ACADVL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475 Tags
Green Green List (high evidence)	ACAN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813 SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361 Tags
Green Green List (high evidence)	ACAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALPHA-METHYLACETOACETIC ACIDURIA 203750 Tags
Green Green List (high evidence)	ACBD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACBD5 deficiency, OMIM:618863 Tags
Green Green List (high evidence)	ACER3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACER3-related leukodystrophy, OMIM:617762 Tags
Green Green List (high evidence)	ACO2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559 Tags
Green Green List (high evidence)	ACOX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470 Tags
Green Green List (high evidence)	ACP5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944 Tags
Green Green List (high evidence)	ACSL4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 63 300387 ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194 Tags
Green Green List (high evidence)	ACTA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEMALINE MYOPATHY 3, 161800 Tags
Green Green List (high evidence)	ACTA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788 MOYAMOYA DISEASE 5 614042 Tags
Green Green List (high evidence)	ACTB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME ACTB Haploinsufficiency syndtome Tags
Green Green List (high evidence)	ACTG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME Tags
Green Green List (high evidence)	ACTL6B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 Tags
Green Green List (high evidence)	ACVR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100 Tags
Green Green List (high evidence)	ACY1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMINOACYLASE-1 DEFICIENCY 609924 Tags
Green Green List (high evidence)	ADA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADENOSINE DEAMINASE DEFICIENCY 102700 Tags
Green Green List (high evidence)	ADAM22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADAM22-associated developmental and epileptic encephalopathy Tags
Green Green List (high evidence)	ADAMTS18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KNOBLOCH SYNDROME 2 608454 Tags
Green Green List (high evidence)	ADAMTS9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Nephronophthisis Related Ciliopathy Tags gene-checked
Green Green List (high evidence)	ADAMTSL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GELEOPHYSIC DYSPLASIA 1 Tags
Green Green List (high evidence)	ADAR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400 Tags
Green Green List (high evidence)	ADCY5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADCY5-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	ADGRG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POLYMICROGYRIA 606854 Tags
Green Green List (high evidence)	ADGRG6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503 Tags
Green Green List (high evidence)	ADNP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873 Tags
Green Green List (high evidence)	ADPRHL2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 Tags new-gene-name
Green Green List (high evidence)	ADSL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADENYLOSUCCINASE DEFICIENCY 103050 Tags
Green Green List (high evidence)	AFF2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRAGILE X-E MENTAL RETARDATION SYNDROME 309548 Tags
Green Green List (high evidence)	AFF3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Skeletal dysplasia with severe neurological disease Tags
Green Green List (high evidence)	AFF4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE-LIKE SYNDROME Tags
Green Green List (high evidence)	AGA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ASPARTYLGLUCOSAMINURIA 208400 Tags
Green Green List (high evidence)	AGK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SENGERS SYNDROME 212350 Tags
Green Green List (high evidence)	AGL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE TYPE III 232400 Tags
Green Green List (high evidence)	AGO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AGO1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	AGPS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121 Tags
Green Green List (high evidence)	AGTPBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276 Tags
Green Green List (high evidence)	AGXT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPEROXALURIA, PRIMARY, TYPE 1 259900 Tags
Green Green List (high evidence)	AHDC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XIA-GIBBS SYNDROME 615829 Tags
Green Green List (high evidence)	AHI1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 614615 Tags
Green Green List (high evidence)	AIFM1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816 COWCHOCK SYNDROME 310490 Tags
Green Green List (high evidence)	AIMP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY, HYPOMYELINATING, 3 260600 Tags
Green Green List (high evidence)	AIPL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 4 604393 Tags
Green Green List (high evidence)	AIRE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300 Tags
Green Green List (high evidence)	AK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETICULAR DYSGENESIS 267500 Tags
Green Green List (high evidence)	AKR1D1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555 Tags
Green Green List (high evidence)	AKT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROTEUS SYNDROME 176920 Tags mosaicism
Green Green List (high evidence)	AKT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900 Tags
Green Green List (high evidence)	AKT3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEMIMEGALENCEPHALY AKT3 603387 Tags mosaicism
Green Green List (high evidence)	ALDH18A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162 CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603 MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652 Tags
Green Green List (high evidence)	ALDH1A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia Tags
Green Green List (high evidence)	ALDH1A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANOPHTHALMIA/MICROPHTHALMIA Tags
Green Green List (high evidence)	ALDH3A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SJOEGREN-LARSSON SYNDROME 270200 Tags
Green Green List (high evidence)	ALDH4A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPROLINEMIA TYPE 2 239510 Tags
Green Green List (high evidence)	ALDH5A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980 Tags
Green Green List (high evidence)	ALDH7A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYRIDOXINE-DEPENDENT EPILEPSY 266100 Tags
Green Green List (high evidence)	ALDOA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE XII 611881 Tags
Green Green List (high evidence)	ALG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG1-CDG 300141 Tags
Green Green List (high evidence)	ALG11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG11-CDG 319490 Tags
Green Green List (high evidence)	ALG12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143 Tags
Green Green List (high evidence)	ALG13	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 DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS 300884 EPILEPTIC ENCEPHALOPATHIES. Tags
Green Green List (high evidence)	ALG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG2-CDG 237149 Tags
Green Green List (high evidence)	ALG3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG3-CDG 237128 Tags
Green Green List (high evidence)	ALG6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG6-CDG 237124 Tags
Green Green List (high evidence)	ALG8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih OMIM:608104 ALG8-CDG MONDO:0011969 Tags
Green Green List (high evidence)	ALG9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG9-CDG 300153 Tags
Green Green List (high evidence)	ALKBH8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504 Tags
Green Green List (high evidence)	ALMS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALSTROM SYNDROME 203800 Tags
Green Green List (high evidence)	ALPL	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOPHOSPHATASIA 241500 Tags
Green Green List (high evidence)	ALS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALS2-RELATED DISORDERS 240656 Tags
Green Green List (high evidence)	ALX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRONTONASAL DYSPLASIA TYPE 3 136760 Tags
Green Green List (high evidence)	ALX3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRONTONASAL DYSPLASIA TYPE 1 136760 Tags
Green Green List (high evidence)	ALX4	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PARIETAL FORAMINA 2 609597 FRONTONASAL DYSPLASIA 2 613451 Tags
Green Green List (high evidence)	AMER1	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 DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373 Tags
Green Green List (high evidence)	AMOTL1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Other Phenotypes tall stature cardiac anomalies orofacial clefting AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature Tags gene-checked
Green Green List (high evidence)	AMPD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA Tags
Green Green List (high evidence)	AMT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCINE ENCEPHALOPATHY 605899 Tags
Green Green List (high evidence)	ANAPC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Rothmund-Thomson Syndrome Type 1 Tags
Green Green List (high evidence)	ANKH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHONDROCALCINOSIS 2 118600 CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000 Tags
Green Green List (high evidence)	ANKRD11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KBG SYNDROME 148050 Tags
Green Green List (high evidence)	ANKRD17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANKRD17-associated neurodevelopmental disorder Tags
Green Green List (high evidence)	ANKRD26	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THROMBOCYTOPENIA 2 188000 Tags
Green Green List (high evidence)	ANO5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307 GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 Tags
Green Green List (high evidence)	ANTXR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GAPO syndrome, OMIM:230740 Tags
Green Green List (high evidence)	AP1G1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AP1G1-related intellectual disability, biallelic AP1G1-related intellectual disability and epilepsy, monoallelic Tags
Green Green List (high evidence)	AP1S2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 59 300630 Tags
Green Green List (high evidence)	AP2M1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental and Epileptic Encephalopathy Tags
Green Green List (high evidence)	AP2S1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AP2S1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	AP3B2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epileptic Encephalopathy with Optic Atrophy Tags
Green Green List (high evidence)	AP4B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066 Tags
Green Green List (high evidence)	AP4E1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744 Tags
Green Green List (high evidence)	AP4M1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 612936 Tags
Green Green List (high evidence)	AP4S1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067 Tags
Green Green List (high evidence)	APC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay Tags
Green Green List (high evidence)	APOPT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags new-gene-name
Green Green List (high evidence)	APTX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA WITH OCULOMOTOR APRAXIA 1 208920 Tags
Green Green List (high evidence)	AR	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200 ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 Tags
Green Green List (high evidence)	ARCN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Microcephalic dwarfism Tags
Green Green List (high evidence)	ARF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615 Tags
Green Green List (high evidence)	ARF3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARF3-related neurodevelopmental disorder Tags de novo gene-checked
Green Green List (high evidence)	ARFGEF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARFGEF1-related intellectual disability and epilepsy Tags
Green Green List (high evidence)	ARFGEF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097 Tags
Green Green List (high evidence)	ARG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININEMIA 207800 Tags
Green Green List (high evidence)	ARHGAP31	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME 1 100300 Tags
Green Green List (high evidence)	ARHGAP35	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARHGAP35-related developmental disorder (monoallelic) Tags gene-checked
Green Green List (high evidence)	ARHGEF9	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 DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607 Tags
Green Green List (high evidence)	ARID1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COFFIN-SIRIS SYNDROME 135900 Tags
Green Green List (high evidence)	ARID1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900 COFFIN SIRIS SYNDROME 135900 Tags
Green Green List (high evidence)	ARID2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARID2-Coffin-Siris like disorder Tags
Green Green List (high evidence)	ARL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME, 614615 Tags
Green Green List (high evidence)	ARL6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA TYPE 55 613575 BARDET-BIEDL SYNDROME TYPE 3 209900 Tags
Green Green List (high evidence)	ARMC4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 23 615451 Tags new-gene-name
Green Green List (high evidence)	ARMC9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Joubert syndrome 30 Tags
Green Green List (high evidence)	ARPC4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARPC4-related microcephaly and developmental delay Tags
Green Green List (high evidence)	ARSA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARYLSULFATASE A DEFICIENCY 250100 Tags
Green Green List (high evidence)	ARSB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 6 253200 Tags
Green Green List (high evidence)	ARSE	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950 Tags new-gene-name
Green Green List (high evidence)	ARX	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED ARX-RELATED 300419 AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004 LISSENCEPHALY X-LINKED TYPE 2 300215 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350 PARTINGTON SYNDROME 309510 Tags
Green Green List (high evidence)	ASAH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FARBER LIPOGRANULOMATOSIS 228000 SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 Tags
Green Green List (high evidence)	ASH1L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	ASL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININOSUCCINATE LYASE DEFICIENCY 207900 Tags
Green Green List (high evidence)	ASNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Asparagine synthetase deficiency, OMIM:615574 Tags
Green Green List (high evidence)	ASPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CANAVAN DISEASE 271900 Tags
Green Green List (high evidence)	ASPH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS Tags
Green Green List (high evidence)	ASPM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 Tags
Green Green List (high evidence)	ASS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CITRULLINEMIA TYPE I 615700 Tags
Green Green List (high evidence)	ASXL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BOHRING-OPITZ SYNDROME 605039 Tags
Green Green List (high evidence)	ASXL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental delay, macrocephaly, and dysmorphic features Tags
Green Green List (high evidence)	ASXL3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BAINBRIDGE-ROPERS SYNDROME 615485 Tags
Green Green List (high evidence)	ATAD3A	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy Tags
Green Green List (high evidence)	ATG7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Literature Phenotypes ATG7-related intellectual disability and ataxia, OMIM:619422 developmental delay ataxia Tags
Green Green List (high evidence)	ATIC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICA-RIBOSURIA 608688 Tags
Green Green List (high evidence)	ATL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATL1-associated hereditary spastic paraplegia Tags
Green Green List (high evidence)	ATM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA-TELANGIECTASIA 208900 Tags
Green Green List (high evidence)	ATN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 Tags
Green Green List (high evidence)	ATP13A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PARKINSON DISEASE 9 606693 Tags
Green Green List (high evidence)	ATP1A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Renal Hypomagnesemia Refractory Seizures and Intellectual Disability Tags
Green Green List (high evidence)	ATP1A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP1A2-related epileptic encephalopathy MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy Tags
Green Green List (high evidence)	ATP1A3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RAPID-ONSET DYSTONIA-PARKINSONISM 128235 ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290 Tags
Green Green List (high evidence)	ATP2B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP2B1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	ATP5A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP5F1A-related mitochondrial encephalopathy, OMIM:615228 ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia Tags new-gene-name
Green Green List (high evidence)	ATP5D	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP5F1D metabolic disorder Tags new-gene-name
Green Green List (high evidence)	ATP6V0A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP6V0A1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	ATP6V0C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP6V0C-related Developmental Disorder Tags
Green Green List (high evidence)	ATP6V1A	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal Recessive Cutis Laxa (AR) Epileptic encephalopathy, infantile or early childhood, 3 (AD) Tags
Green Green List (high evidence)	ATP6V1B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300 Tags
Green Green List (high evidence)	ATP6V1B2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZIMMERMANN-LABAND SYNDROME Tags
Green Green List (high evidence)	ATP6V1E1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa Tags
Green Green List (high evidence)	ATP7A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489 OCCIPITAL HORN SYNDROME 304150 MENKES DISEASE 309400 Tags
Green Green List (high evidence)	ATP8B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600 Tags
Green Green List (high evidence)	ATP9A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP9A-related neurodevelopmental disorder Tags
Green Green List (high evidence)	ATR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SECKEL SYNDROME TYPE 1 210600 Tags
Green Green List (high evidence)	ATRX	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580 ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 Tags
Green Green List (high evidence)	AUH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950 Tags
Green Green List (high evidence)	AUTS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags
Green Green List (high evidence)	B3GALNT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181 Tags
Green Green List (high evidence)	B3GALT6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640 EHLERS-DANLOS SYNDROME 130070 Tags
Green Green List (high evidence)	B4GALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091 Tags
Green Green List (high evidence)	B4GALT7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070 Tags
Green Green List (high evidence)	B9D1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MECKEL SYNDROME 9 614209 Tags
Green Green List (high evidence)	BANF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NESTOR-GUILLERMO PROGERIA SYNDROME 614008 Tags
Green Green List (high evidence)	BAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BAP1-associated neurodevelopmental syndrome Tags
Green Green List (high evidence)	BBS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Bardet-Biedl syndrome 1 OMIM:209900 Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green Green List (high evidence)	BBS10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 10 209900 Tags
Green Green List (high evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 12 209900 Tags
Green Green List (high evidence)	BBS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 2 209900 Tags
Green Green List (high evidence)	BBS4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 4 209900 Tags
Green Green List (high evidence)	BBS5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 5 209900 Tags
Green Green List (high evidence)	BBS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 7 209900 Tags
Green Green List (high evidence)	BBS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 9 209900 Tags
Green Green List (high evidence)	BCAP31	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS Tags
Green Green List (high evidence)	BCAS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy Tags
Green Green List (high evidence)	BCKDHA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAPLE SYRUP URINE DISEASE 248600 Tags
Green Green List (high evidence)	BCKDHB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAPLE SYRUP URINE DISEASE 248600 Tags
Green Green List (high evidence)	BCL11A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	BCL11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BCL11B-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	BCOR	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 DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 2 300166 Tags
Green Green List (high evidence)	BCS1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GRACILE SYNDROME 603358 Tags
Green Green List (high evidence)	BFSP2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597 Tags
Green Green List (high evidence)	BGN	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection X-Linked Spondyloepimetaphyseal Dysplasia Tags
Green Green List (high evidence)	BHLHA9	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPLIT HAND AND FOOT MALFORMATION 220600 MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432 Tags
Green Green List (high evidence)	BICD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE Tags
Green Green List (high evidence)	BICRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BICRA-related Developmental Disorder Tags
Green Green List (high evidence)	BIN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENTRONUCLEAR MYOPATHY 2 255200 Tags
Green Green List (high evidence)	BLM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BLOOM SYNDROME 210900 Tags
Green Green List (high evidence)	BLOC1S6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HERMANSKY-PUDLAK SYNDROME 9 614171 Tags
Green Green List (high evidence)	BMP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Short stature, palatal anomalies, congenital heart disease, and skeletal malformations Tags
Green Green List (high evidence)	BMP4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA, SYNDROMIC 6 607932 OROFACIAL CLEFT 11 600625 Tags
Green Green List (high evidence)	BMPER	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIAPHANOSPONDYLODYSOSTOSIS 608022 Tags
Green Green List (high evidence)	BMPR1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY TYPE A2 112600 Tags
Green Green List (high evidence)	BNC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital Lower Urinary Tract Obstruction Tags
Green Green List (high evidence)	BOLA3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299 Tags
Green Green List (high evidence)	BPTF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features Tags
Green Green List (high evidence)	BRAF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEOPARD SYNDROME TYPE 3 613707 NOONAN SYNDROME TYPE 7 613706 CARDIOFACIOCUTANEOUS SYNDROME 115150 Tags
Green Green List (high evidence)	BRAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 614498 Tags
Green Green List (high evidence)	BRCA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY 616579 Tags
Green Green List (high evidence)	BRCA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724 Tags
Green Green List (high evidence)	BRD4	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Cornelia de Lange syndrome 6, OMIM:620568 Tags
Green Green List (high evidence)	BRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRF1-related cerebellofaciodental syndrome, OMIM:616202 Tags
Green Green List (high evidence)	BRIP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054 Tags
Green Green List (high evidence)	BRPF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRPF1 associated syndromic intellectual disability with ptosis Tags
Green Green List (high evidence)	BRSK2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental Disorder Tags gene-checked
Green Green List (high evidence)	BRWD3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 93 300659 Tags
Green Green List (high evidence)	BSND	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARTTER SYNDROME TYPE 4A 602522 Tags
Green Green List (high evidence)	BTD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BIOTINIDASE DEFICIENCY 253260 Tags
Green Green List (high evidence)	BUB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BUB1-related microcephaly and developmental disorder Tags
Green Green List (high evidence)	BUB1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300 Tags
Green Green List (high evidence)	C11orf70	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags gene-checked new-gene-name
Green Green List (high evidence)	C12orf57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340 TEMTAMY SYNDROME Tags
Green Green List (high evidence)	C12orf65	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559 Tags new-gene-name
Green Green List (high evidence)	C1QBP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies Tags
Green Green List (high evidence)	C21orf2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Axial Spondylometaphyseal Dysplasia Tags new-gene-name
Green Green List (high evidence)	C21orf59	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags new-gene-name
Green Green List (high evidence)	C2CD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME XIV 615948 Tags
Green Green List (high evidence)	C2orf71	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA 54 613428 Tags new-gene-name
Green Green List (high evidence)	C4orf26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMYELOGENESIS 614832 Tags new-gene-name
Green Green List (high evidence)	C5orf42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 614615 Tags new-gene-name
Green Green List (high evidence)	C8orf37	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONE-ROD DYSTROPHY 16 614500 Tags new-gene-name
Green Green List (high evidence)	CA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730 Tags
Green Green List (high evidence)	CA5A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751 Tags
Green Green List (high evidence)	CA8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227 Tags
Green Green List (high evidence)	CACNA1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	CACNA1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497 Tags
Green Green List (high evidence)	CACNA1C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 CACNA1C-related disorder Tags
Green Green List (high evidence)	CACNA1D	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896 Tags
Green Green List (high evidence)	CACNA1E	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Tags
Green Green List (high evidence)	CACNA1G	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION CACNA1G-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	CAD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Uridine-responsive epileptic encephalopathy Tags
Green Green List (high evidence)	CAMK2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CAMK2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CAMK2G	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522 Tags
Green Green List (high evidence)	CAMSAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CAMSAP1-associated neuronal migration disorder Tags
Green Green List (high evidence)	CAMTA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756 Tags
Green Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Desbuquois dysplasia 1, OMIM:251450 Tags
Green Green List (high evidence)	CAPRIN1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 Tags
Green Green List (high evidence)	CARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Microcephaly Developmental Delay and Brittle Hair and Nails Tags new-gene-name
Green Green List (high evidence)	CARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epileptic encephalopathy with complex movement disorder and regression Tags
Green Green List (high evidence)	CASK	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 DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED CASK-RELATED 300749 FG SYNDROME TYPE 4 300422 MRX WITH/WITHOUT NYSTAGMUS 300749 Tags
Green Green List (high evidence)	CBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563 Tags
Green Green List (high evidence)	CBS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200 Tags
Green Green List (high evidence)	CC2D1A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443 Tags
Green Green List (high evidence)	CC2D2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 9 612285 COACH SYNDROME 216360 MECKEL SYNDROME, TYPE 6 612284 Tags
Green Green List (high evidence)	CCBE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510 Tags
Green Green List (high evidence)	CCDC103	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green Green List (high evidence)	CCDC114	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags new-gene-name
Green Green List (high evidence)	CCDC115	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Disorder of Golgi homeostasis Tags
Green Green List (high evidence)	CCDC151	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILLARY DYSKINEASIA 616037 Tags new-gene-name
Green Green List (high evidence)	CCDC22	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC X-LINKED INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CCDC32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CCDC32-associated neurodevelopmental syndrome Tags gene-checked
Green Green List (high evidence)	CCDC39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 14 613807 Tags
Green Green List (high evidence)	CCDC40	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 15 613808 Tags
Green Green List (high evidence)	CCDC47	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay Tags gene-checked
Green Green List (high evidence)	CCDC65	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green Green List (high evidence)	CCDC78	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807 Tags
Green Green List (high evidence)	CCDC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THREE M SYNDROME 3 614205 Tags
Green Green List (high evidence)	CCDC88C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600 Tags
Green Green List (high evidence)	CCND2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387 Tags
Green Green List (high evidence)	CCNO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 29 615872 Tags
Green Green List (high evidence)	CD151	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057 Tags
Green Green List (high evidence)	CDC42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CDC42-related Neurodevelopmental Disorder Tags
Green Green List (high evidence)	CDC45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Meier-Gorlin Syndrome and Craniosynostosis Tags
Green Green List (high evidence)	CDC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 5 613805 Tags
Green Green List (high evidence)	CDH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Blepharo-cheiro-dontic syndrome Tags
Green Green List (high evidence)	CDH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CDH11-related, OMIM:211380 Tags
Green Green List (high evidence)	CDH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects Tags
Green Green List (high evidence)	CDH23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes USHER SYNDROME TYPE 1D 601067 DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386 Tags
Green Green List (high evidence)	CDH3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EEM SYNDROME 225280 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 Tags
Green Green List (high evidence)	CDK13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Tags
Green Green List (high evidence)	CDK19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CDK19-associated Intellectual Disability and Epileptic Encephalopathy Tags
Green Green List (high evidence)	CDK5RAP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 Tags
Green Green List (high evidence)	CDK8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CDKL5	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 DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672 Tags
Green Green List (high evidence)	CDKN1C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 IMAGe Syndrome Tags
Green Green List (high evidence)	CDON	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOLOPROSENCEPHALY 11 614226 Tags
Green Green List (high evidence)	CDT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 4 613804 Tags
Green Green List (high evidence)	CELF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CELF2-related neurodevelopmental disorder Tags
Green Green List (high evidence)	CENPF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Stromme syndrome, OMIM:243605 Tags
Green Green List (high evidence)	CENPJ	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SECKEL SYNDROME TYPE 4 613676 MICROCEPHALY PRIMARY TYPE 6 608393 Tags
Green Green List (high evidence)	CEP104	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Joubert syndrome 25, 616781 Tags
Green Green List (high evidence)	CEP135	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673 Tags
Green Green List (high evidence)	CEP152	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY PRIMARY TYPE 4 604321 SECKEL SYNDROME TYPE 5 613823 Tags
Green Green List (high evidence)	CEP290	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 14 209900 LEBER CONGENITAL AMAUROSIS TYPE 10 611755 JOUBERT SYNDROME TYPE 5 610188 SENIOR-LOKEN SYNDROME TYPE 6 610189 MECKEL SYNDROME TYPE 4 611134 Tags
Green Green List (high evidence)	CEP41	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 15 614464 Tags
Green Green List (high evidence)	CEP57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114 Tags
Green Green List (high evidence)	CEP63	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SECKEL SYNDROME 6 614728 Tags
Green Green List (high evidence)	CEP83	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CEP85L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEP85L-associated posterior-predominant lissencephaly, OMIM:618873 Tags gene-checked
Green Green List (high evidence)	CFC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372 Tags
Green Green List (high evidence)	CFL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEMALINE MYOPATHY 7 610687 Tags
Green Green List (high evidence)	CHAMP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CHD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHD1-related neurodevelopment disorder Tags
Green Green List (high evidence)	CHD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	CHD3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Macrocephaly and impaired speech and language Tags
Green Green List (high evidence)	CHD4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Tags
Green Green List (high evidence)	CHD7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHARGE SYNDROME 214800 IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110 KALLMANN SYNDROME TYPE 5 612370 Tags
Green Green List (high evidence)	CHD8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTISM 209850 Tags
Green Green List (high evidence)	CHKA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHKA-related neurodevelopmental disorder Tags
Green Green List (high evidence)	CHM	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHOROIDEREMIA 303100 Tags
Green Green List (high evidence)	CHMP1A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961 Tags
Green Green List (high evidence)	CHRDL1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEGALOCORNEA, X-LINKED 309300 Tags
Green Green List (high evidence)	CHRNA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290 Tags
Green Green List (high evidence)	CHRNA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHRNA3-related congenital anomalies of the kidney and urinary tract Tags
Green Green List (high evidence)	CHRNA4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513 Tags
Green Green List (high evidence)	CHRNB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314 CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313 Tags
Green Green List (high evidence)	CHRNB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375 NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 Tags
Green Green List (high evidence)	CHRNG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000 Tags
Green Green List (high evidence)	CHST14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776 Tags
Green Green List (high evidence)	CHST3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095 Tags
Green Green List (high evidence)	CHSY1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282 Tags
Green Green List (high evidence)	CHUK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COCOON SYNDROME 613630 Tags
Green Green List (high evidence)	CIB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSYNDROMIC DEAFNESS DFNB48 609439 USHER SYNDROME TYPE 1J 614869 Tags
Green Green List (high evidence)	CIC	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CAPICUA, DROSOPHILA, HOMOLOG OF 612082 Tags
Green Green List (high evidence)	CISD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WOLFRAM SYNDROME TYPE 2 604928 Tags
Green Green List (high evidence)	CIT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY MICROCEPHALY 615414 Tags
Green Green List (high evidence)	CKAP2L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440 Tags
Green Green List (high evidence)	CLCN3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512 CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 Tags
Green Green List (high evidence)	CLCN4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CLCN6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLCN6-related Developmental Disorder Tags de novo
Green Green List (high evidence)	CLCN7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLCN7-RELATED OSTEOPETROSIS 611490 Tags
Green Green List (high evidence)	CLCNKB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARTTER SYNDROME TYPE 4B 613090 Tags
Green Green List (high evidence)	CLDN19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190 Tags
Green Green List (high evidence)	CLMP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL SHORT BOWEL SYNDROME 615237 Tags
Green Green List (high evidence)	CLN3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200 Tags
Green Green List (high evidence)	CLN5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 Tags
Green Green List (high evidence)	CLN8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003 NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143 Tags
Green Green List (high evidence)	CLP1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Pontocerebellar hypoplasia 10 OMIM:615803 Pontocerebellar hypoplasia type 10 MONDO:0014349 Tags founder-effect
Green Green List (high evidence)	CLPB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271 Tags
Green Green List (high evidence)	CLPP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERRAULT SYNDROME Tags
Green Green List (high evidence)	CLTC	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Overgrowth intellectual disability Epilepsy and intellectual disability Tags
Green Green List (high evidence)	CNKSR2	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY WITH EPILEPSY Tags
Green Green List (high evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CNNM2-related neurodevelopmental disorder with hypomagnesemia autosomal recessive form Tags
Green Green List (high evidence)	CNOT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes pancreatic agenesis and holoprosencephaly syndrome HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500 Tags
Green Green List (high evidence)	CNOT3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CNOT3 syndrome Tags
Green Green List (high evidence)	CNPY3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EARLY ONSET EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	CNTNAP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286 Tags
Green Green List (high evidence)	CNTNAP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042 Tags
Green Green List (high evidence)	COASY	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEGENERATION WITH BRAIN IRON ACCUMULATION Tags
Green Green List (high evidence)	COG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG1-CDG 300197 Tags
Green Green List (high evidence)	COG4	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG4-CDG 319493 Saul-Wilson syndrome 618150 Tags
Green Green List (high evidence)	COG5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG5-CDG 319494 Tags
Green Green List (high evidence)	COG7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG7-CDG 300171 Tags
Green Green List (high evidence)	COG8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG8-CDG 300204 Tags
Green Green List (high evidence)	COL10A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500 Tags
Green Green List (high evidence)	COL11A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes STICKLER SYNDROME, TYPE II 604841 FIBROCHONDROGENESIS 228520 Tags
Green Green List (high evidence)	COL11A2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WEISSENBACHER-ZWEYMUELLER SYNDROME 184840 AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150 DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868 STICKLER SYNDROME TYPE 3 184840 DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 Tags
Green Green List (high evidence)	COL13A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital Myasthenic Syndrome Type 19 Tags
Green Green List (high evidence)	COL18A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Knobloch syndrome, type 1, OMIM:267750 Tags
Green Green List (high evidence)	COL1A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CAFFEY DISEASE 114000 OSTEOGENESIS IMPERFECTA TYPE IIA 166210 OSTEOGENESIS IMPERFECTA TYPE III 259420 COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060 OSTEOGENESIS IMPERFECTA TYPE I 166200 EHLERS-DANLOS SYNDROME TYPE VIIA 319158 Tags
Green Green List (high evidence)	COL25A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219 Tags
Green Green List (high evidence)	COL27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Steel Syndrome Tags
Green Green List (high evidence)	COL2A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACHONDROGENESIS TYPE 2 200610 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210 SPONDYLOPERIPHERAL DYSPLASIA 271700 PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805 SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900 RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508 KNIEST DYSPLASIA 156550 STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 Tags
Green Green List (high evidence)	COL4A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PORENCEPHALY 1 175780 Tags
Green Green List (high evidence)	COL4A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PORENCEPHALY 2 614483 Tags
Green Green List (high evidence)	COL4A3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780 ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 Tags
Green Green List (high evidence)	COL4A3BP	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags new-gene-name
Green Green List (high evidence)	COL4A4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780 Tags
Green Green List (high evidence)	COL6A1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COL6A1 associated myopathy Tags
Green Green List (high evidence)	COL6A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090 COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090 Tags
Green Green List (high evidence)	COL6A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSTONIA 27 616411 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090 Tags
Green Green List (high evidence)	COL9A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes STICKLER SYNDROME TYPE 4 614134 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135 Tags
Green Green List (high evidence)	COL9A2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204 STICKLER SYNDROME, TYPE V 614284 Tags
Green Green List (high evidence)	COL9A3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969 Stickler syndrome Tags
Green Green List (high evidence)	COLEC10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3MC Tags
Green Green List (high evidence)	COLEC11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3MC SYNDROME 2 265050 Tags
Green Green List (high evidence)	COPB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COPB2-associated developmental delay and microcephaly, OMIM:617800 COPB2-related developmental delay and osteopenia Tags
Green Green List (high evidence)	COQ2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY 607426 Tags
Green Green List (high evidence)	COQ4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276 Tags
Green Green List (high evidence)	COQ8A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY 607426 Tags
Green Green List (high evidence)	COQ9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY 607426 Tags
Green Green List (high evidence)	COX10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000 MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	COX15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000 MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	COX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COX16-related Developmental Disorder Tags gene-checked
Green Green List (high evidence)	COX6B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	COX7B	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 DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887 Tags
Green Green List (high evidence)	CPAMD8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Anterior Segment Dysgenesis Tags
Green Green List (high evidence)	CPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300 Tags
Green Green List (high evidence)	CPSF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CPSF3-associated neurodevelopmental disorder with seizures and microcephaly Tags
Green Green List (high evidence)	CRB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105 LEBER CONGENITAL AMAUROSIS 8 613835 Tags
Green Green List (high evidence)	CRB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730 Tags
Green Green List (high evidence)	CREBBP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849 CREBBP intellectual disability without typical RTS features Tags
Green Green List (high evidence)	CRELD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HETEROTAXY SYNDROME 207574 Tags
Green Green List (high evidence)	CRX	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829 Tags
Green Green List (high evidence)	CRYAA	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, NUCLEAR 123580 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219 Tags
Green Green List (high evidence)	CRYBA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881 Tags
Green Green List (high evidence)	CRYBB1	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT 17, MULTIPLE TYPES, MONOALLELIC CATARACT 17, MULTIPLE TYPES CATARACT 17, MULTIPLE TYPES, BIALLELIC Tags
Green Green List (high evidence)	CRYBB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547 CATARACT, COPPOCK-LIKE 604307 Tags
Green Green List (high evidence)	CRYBB3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741 Tags
Green Green List (high evidence)	CRYGC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT AUTOSOMAL DOMINANT 604219 CATARACT COPPOCK-LIKE 604307 Tags
Green Green List (high evidence)	CSF1R	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476 Tags
Green Green List (high evidence)	CSNK2A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CSNK2A1 syndrome Tags
Green Green List (high evidence)	CSNK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CSNK2B-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	CSPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY Tags
Green Green List (high evidence)	CSTA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE 607936 Tags
Green Green List (high evidence)	CSTB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UNVERRICHT-LUNDBORG DISEASE 254800 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	CTBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CTBP1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	CTC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199 Tags
Green Green List (high evidence)	CTCF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CTDP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168 Tags
Green Green List (high evidence)	CTNNA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Disordered cortical neuronal migration Tags
Green Green List (high evidence)	CTNNB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075 Tags
Green Green List (high evidence)	CTNND1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Blepharo-cheiro-dontic syndrome Tags
Green Green List (high evidence)	CTNND2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CTNND2-related neurodevelopmental disorder Tags gene-checked
Green Green List (high evidence)	CTNS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750 CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900 CYSTINOSIS NEPHROPATHIC TYPE 219800 Tags
Green Green List (high evidence)	CTSA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALACTOSIALIDOSIS 256540 Tags
Green Green List (high evidence)	CTSD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127 Tags
Green Green List (high evidence)	CTSK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYCNODYSOSTOSIS 265800 Tags
Green Green List (high evidence)	CTU2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142 Tags
Green Green List (high evidence)	CUL3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CUL3-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	CUL4B	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354 Tags
Green Green List (high evidence)	CUL7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-M SYNDROME 1 273750 Tags
Green Green List (high evidence)	CUX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental epileptic encephalopathy Tags
Green Green List (high evidence)	CWC27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Retinitis pigmentosa, skeletal anomalies and intellectual disability Tags
Green Green List (high evidence)	CYB5R3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 319395 Tags
Green Green List (high evidence)	CYC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453 Tags
Green Green List (high evidence)	CYFIP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468 Tags
Green Green List (high evidence)	CYP1B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 Tags
Green Green List (high evidence)	CYP27A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Cerebrotendinous xanthomatosis Tags
Green Green List (high evidence)	CYP2U1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY SPASTIC PARAPLEGIA 615030 Tags
Green Green List (high evidence)	DAG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818 Tags
Green Green List (high evidence)	DARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281 Tags new-gene-name
Green Green List (high evidence)	DARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105 Tags
Green Green List (high evidence)	DAW1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DAW1-associated ciliopathy Tags gene-checked
Green Green List (high evidence)	DBT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAPLE SYRUP URINE DISEASEQ 248600 Tags
Green Green List (high evidence)	DCC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability Tags
Green Green List (high evidence)	DCDC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL-HEPATIC CILIOPATHY 616217 Tags
Green Green List (high evidence)	DCHS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA Tags
Green Green List (high evidence)	DCX	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 DD-Gene2Phenotype Expert Review Green Phenotypes SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067 LISSENCEPHALY X-LINKED TYPE 1 300067 Tags
Green Green List (high evidence)	DDB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DDB1-associated neurodevelopmental syndrome Tags
Green Green List (high evidence)	DDB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE 278740 Tags
Green Green List (high evidence)	DDC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643 Tags
Green Green List (high evidence)	DDHD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY SPASTIC PARAPLEGIA 615030 Tags
Green Green List (high evidence)	DDHD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033 Tags
Green Green List (high evidence)	DDOST	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR 614507 Tags
Green Green List (high evidence)	DDR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665 Tags
Green Green List (high evidence)	DDX11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WARSAW BREAKAGE SYNDROME 613398 Tags
Green Green List (high evidence)	DDX23	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DDX23-related developmental disorder (monoallelic) Tags gene-checked
Green Green List (high evidence)	DDX3X	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 DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DIABILITY Tags
Green Green List (high evidence)	DDX59	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME Tags
Green Green List (high evidence)	DDX6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	DEAF1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autism, intellectual disability, basal ganglia dysfunction and epilepsy MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828 Tags
Green Green List (high evidence)	DEGS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY, HYPOMYELINATING, 18, 618404 Tags
Green Green List (high evidence)	DENND5A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	DEPDC5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364 Tags
Green Green List (high evidence)	DHCR24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DESMOSTEROLOSIS 238860 Tags
Green Green List (high evidence)	DHCR7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMITH-LEMLI-OPITZ SYNDROME 270400 Tags
Green Green List (high evidence)	DHDDS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epilepsy and intellectual disability Tags
Green Green List (high evidence)	DHFR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839 Tags
Green Green List (high evidence)	DHODH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POSTAXIAL ACROFACIAL DYSOSTOSIS 263750 Tags
Green Green List (high evidence)	DHPS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental Disorder of Hypusination Tags
Green Green List (high evidence)	DHTKD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750 Tags
Green Green List (high evidence)	DHX30	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental Disorder Tags
Green Green List (high evidence)	DIS3L2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERLMAN SYNDROME 267000 Tags
Green Green List (high evidence)	DKC1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, X-LINKED, 305000 DKC1-RELATED DYSKERATOSIS CONGENITA 314912 Tags
Green Green List (high evidence)	DLAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348 Tags
Green Green List (high evidence)	DLD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600 LEIGH SYNDROME 256000 Tags
Green Green List (high evidence)	DLG3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 90 300189 Tags
Green Green List (high evidence)	DLG4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DLG4 related intellectual disability Tags
Green Green List (high evidence)	DLL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300 Tags
Green Green List (high evidence)	DLL4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME 6 616589 Tags
Green Green List (high evidence)	DMD	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DUCHENNE MUSCULAR DYSTROPHY 310200 BECKER MUSCULAR DYSTROPHY 300376 CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045 Tags Skewed X-inactivation
Green Green List (high evidence)	DMP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOPHOSPHATEMIC RICKETS, AR 241520 Tags
Green Green List (high evidence)	DMPK_CTG STR	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green Green List (high evidence)	DNAAF3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINEASIA 606763 Tags
Green Green List (high evidence)	DNAAF4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSPLASIA Tags
Green Green List (high evidence)	DNAAF5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 18 614874 Tags
Green Green List (high evidence)	DNAH5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 3 Tags
Green Green List (high evidence)	DNAH9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Motile Cilia Defects and Situs Inversus Tags
Green Green List (high evidence)	DNAJC12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Hyperphenylalaninemia, Dystonia, and Intellectual Disability Tags
Green Green List (high evidence)	DNM1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	DNM1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DNM1L-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	DNMT3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879 Microcephalic primordial dwarfism Tags
Green Green List (high evidence)	DNMT3B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860 Tags
Green Green List (high evidence)	DOCK6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME 2 614219 Tags
Green Green List (high evidence)	DOCK7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 615859 Tags
Green Green List (high evidence)	DOCK8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700 Tags
Green Green List (high evidence)	DOHH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DOHH-related neurodevelopmental disorder Tags
Green Green List (high evidence)	DOLK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	DPAGT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750 DPAGT1-CDG 300129 Tags
Green Green List (high evidence)	DPF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Coffin Siris like disorder Tags
Green Green List (high evidence)	DPH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DPH5-related neurodevelopmental disorder Tags
Green Green List (high evidence)	DPM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	DPM3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 612937 Tags
Green Green List (high evidence)	DPYSL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DPYSL5-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	DRC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILARY DYSKINEASIA 244400 Tags
Green Green List (high evidence)	DSG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508 Tags
Green Green List (high evidence)	DSP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DSP-related developmental disorder Tags
Green Green List (high evidence)	DSPP	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II 125490 DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594 Tags
Green Green List (high evidence)	DSTYK	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 Autosomal Recessive Complicated Spastic Paraparesis SPG23 Tags
Green Green List (high evidence)	DVL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-DOMINANT ROBINOW SYNDROME Tags
Green Green List (high evidence)	DVL3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-DOMINANT ROBINOW SYNDROME Tags
Green Green List (high evidence)	DYM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYGGVE-MELCHIOR-CLAUSEN SYNDROME 223800 SMITH-MCCORT DYSPLASIA 607326 Tags
Green Green List (high evidence)	DYNC1H1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600 SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112 Tags
Green Green List (high evidence)	DYNC1I2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 618492 Tags
Green Green List (high evidence)	DYNC2H1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091 SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510 Tags
Green Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYNC2LI1-related short-rib polydactyly, OMIM:617088 Tags
Green Green List (high evidence)	DYRK1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104 Tags
Green Green List (high evidence)	EBF3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Hypotonia, ataxia, and delayed development syndrome OMIM:617330 hypotonia, ataxia, and delayed development syndrome MONDO:0015021 Tags
Green Green List (high evidence)	EBP	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 DD-Gene2Phenotype Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960 Tags
Green Green List (high evidence)	ECEL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL ARTHROGRYPOSIS TYPE 5D 615065 Tags
Green Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY Tags
Green Green List (high evidence)	ECM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100 Tags
Green Green List (high evidence)	EDA	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500 ECTODERMAL DYSPLASIA TYPE 1 305100 Tags
Green Green List (high evidence)	EDAR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Tags
Green Green List (high evidence)	EDEM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EDEM3-related congenital disorder of glycosylation, OMIM:619493 Tags
Green Green List (high evidence)	EDN1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AURICULOCONDYLAR SYNDROME 602483 Tags
Green Green List (high evidence)	EDNRA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 616367 Tags
Green Green List (high evidence)	EDNRB	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ABCD SYNDROME, OMIM:600501 Tags
Green Green List (high evidence)	EED	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Weaver-like overgrowth syndrome Tags
Green Green List (high evidence)	EEF1A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	EFEMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437 Tags
Green Green List (high evidence)	EFNB1	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 DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOFRONTONASAL SYNDROME, OMIM:304110 Tags
Green Green List (high evidence)	EFTUD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536 Tags
Green Green List (high evidence)	EGR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253 Tags
Green Green List (high evidence)	EHMT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Kleefstra syndrome Tags
Green Green List (high evidence)	EIF2AK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation Tags
Green Green List (high evidence)	EIF2AK3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WOLCOTT-RALLISON SYNDROME 226980 Tags
Green Green List (high evidence)	EIF2B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896 Tags
Green Green List (high evidence)	EIF2B5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896 Tags
Green Green List (high evidence)	EIF2S3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic ID with severe microcephaly Tags
Green Green List (high evidence)	EIF3F	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EIF3F related developmental disorder Tags
Green Green List (high evidence)	EIF4A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RICHIERI-COSTA-PEREIRA SYNDROME Tags
Green Green List (high evidence)	EIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EIF5A-related craniofacial-neurodevelopmental disorder Tags
Green Green List (high evidence)	ELAC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	ELMO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intraosseous Vascular Malformation Tags
Green Green List (high evidence)	ELN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ELN-RELATED CUTIS LAXA 314088 SUPRAVALVAR AORTIC STENOSIS 185500 Tags
Green Green List (high evidence)	ELOVL4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457 Tags
Green Green List (high evidence)	EMC1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic Tags
Green Green List (high evidence)	EMC10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EMC10-related neurodevelopmental disorder Tags
Green Green List (high evidence)	EMG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Bowen-Conradi syndrome Tags
Green Green List (high evidence)	ENPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000 Tags
Green Green List (high evidence)	EOGT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADAMS OLIVER SYNDROME Tags
Green Green List (high evidence)	EP300	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 2 613684 Tags
Green Green List (high evidence)	EPCAM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217 Tags
Green Green List (high evidence)	EPG5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840 Tags
Green Green List (high evidence)	EPRS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Hypomyelinating Leukodystrophy Tags new-gene-name
Green Green List (high evidence)	ERBB3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Hirschprung disease with intestinal pseudo-obstruction LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598 Tags
Green Green List (high evidence)	ERCC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA 229154 CEREBROOCULOFACIOSKELETAL SYNDROME 4 610758 Tags
Green Green List (high evidence)	ERCC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730 CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756 TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 Tags
Green Green List (high evidence)	ERCC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651 TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 Tags
Green Green List (high evidence)	ERCC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMORDIAL DWARFISM 615272 XFE PROGEROID SYNDROME 610965 XERODERMA PIGMENTOSUM, GROUP F 278760 FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272 Tags
Green Green List (high evidence)	ERCC5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780 Tags
Green Green List (high evidence)	ERCC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DE SANCTIS-CACCHIONE SYNDROME 278800 UV-SENSITIVE SYNDROME 609413 CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150 COCKAYNE SYNDROME TYPE B 133540 Tags
Green Green List (high evidence)	ERCC6L2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BONE MARROW FAILURE SYNDROME 2 615715 Tags
Green Green List (high evidence)	ERCC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COCKAYNE SYNDROME TYPE A 216400 Tags
Green Green List (high evidence)	ERF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMPLEX CRANIOSYNOSTOSIS Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia Tags
Green Green List (high evidence)	ESCO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SC PHOCOMELIA SYNDROME 269000 ROBERTS SYNDROME 268300 Tags
Green Green List (high evidence)	ETFA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2C 231680 Tags
Green Green List (high evidence)	ETHE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ETHYLMALONIC ENCEPHALOPATHY 602473 Tags
Green Green List (high evidence)	EVC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ELLIS-VAN CREVELD SYNDROME 225500 ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 Tags
Green Green List (high evidence)	EVC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 ELLIS-VAN CREVELD SYNDROME 225500 Tags
Green Green List (high evidence)	EXOSC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 Tags
Green Green List (high evidence)	EXOSC9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Cerebellar Atrophy with Spinal Motor Neuronopathy Tags
Green Green List (high evidence)	EXPH5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INHERITED SKIN FRAGILITY 615028 Tags
Green Green List (high evidence)	EXT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700 TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230 Tags
Green Green List (high evidence)	EXT2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EXOSTOSES, MULTIPLE, TYPE 2 133701 Tags
Green Green List (high evidence)	EXTL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neuro immuno skeletal Dysplasia Syndrome Tags
Green Green List (high evidence)	EYA1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650 Tags
Green Green List (high evidence)	EZH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WEAVER SYNDROME 2 614421 Tags
Green Green List (high evidence)	FAH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TYROSINEMIA TYPE 1 276700 Tags
Green Green List (high evidence)	FAM111A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KENNY-CAFFEY SYNDROME 127000 Tags
Green Green List (high evidence)	FAM126A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532 Tags new-gene-name
Green Green List (high evidence)	FAM149B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Ciliopathy-related syndromic intellectual disability Tags gene-checked
Green Green List (high evidence)	FAM161A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA 28 606068 Tags
Green Green List (high evidence)	FAM20A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253 Tags
Green Green List (high evidence)	FAM20C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RAINE SYNDROME 259775 Tags
Green Green List (high evidence)	FAM58A	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 DD-Gene2Phenotype Expert Review Green Phenotypes STAR SYNDROME 300707 Tags new-gene-name
Green Green List (high evidence)	FANCA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650 Tags
Green Green List (high evidence)	FANCB	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCB-RELATED FANCONI ANEMIA 229139 Tags
Green Green List (high evidence)	FANCC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645 Tags
Green Green List (high evidence)	FANCD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646 Tags
Green Green List (high evidence)	FANCE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901 Tags
Green Green List (high evidence)	FANCF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467 Tags
Green Green List (high evidence)	FANCG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082 Tags
Green Green List (high evidence)	FANCI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCI-RELATED FANCONI ANEMIA 234476 FANCONI ANEMIA 229154 Tags
Green Green List (high evidence)	FANCL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCL-RELATED FANCONI ANEMIA 234480 FANCONI ANEMIA 229154 Tags
Green Green List (high evidence)	FANCM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCM-RELATED FANCONI ANEMIA 287713 FANCONI ANEMIA 229154 Tags
Green Green List (high evidence)	FAR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS Tags
Green Green List (high evidence)	FARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurometabolic disorder due to FARS2 deficiency Tags
Green Green List (high evidence)	FAT4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006 VAN MALDERGEM SYNDROME 615546 Tags
Green Green List (high evidence)	FBN1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 MARFAN SYNDROME, OMIM:154700 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 Marfan Syndrome, biallelic, OMIM:154700 Tags
Green Green List (high evidence)	FBN2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Contractural arachnodactyly, congenital OMIM:121050 congenital contractural arachnodactyly MONDO:0007363 Tags
Green Green List (high evidence)	FBP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700 Tags
Green Green List (high evidence)	FBXL4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE Tags
Green Green List (high evidence)	FBXO11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Variable Neurodevelopmental Disorder Tags
Green Green List (high evidence)	FBXO28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FBX028-related developmental and epileptic encephalopathy with profound intellectual disability Tags
Green Green List (high evidence)	FBXW11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags
Green Green List (high evidence)	FBXW7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FBXW7-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	FEZF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA 616030 Tags
Green Green List (high evidence)	FGD1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AARSKOG-SCOTT SYNDROME 305400 Tags
Green Green List (high evidence)	FGF10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LADD SYNDROME 149730 Tags
Green Green List (high evidence)	FGF12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	FGF13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FGF13-related neurodevelopmental disorder (X-linked dominant) FGF13-related neurodevelopmental disorder (hemizygous) Tags
Green Green List (high evidence)	FGF14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FGF14-related episodic ataxia Tags
Green Green List (high evidence)	FGF3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA 610706 Tags
Green Green List (high evidence)	FGF9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 3 612961 Tags
Green Green List (high evidence)	FGFR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 Encephalocraniocutaneous lipomatosis, OMIM:613001 PFEIFFER SYNDROME, OMIM:101600 OSTEOGLOPHONIC DYSPLASIA, OMIM:166250 Hartsfield syndrome, OMIM:615465 Tags mosaicism
Green Green List (high evidence)	FGFR2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790 ANTLEY-BIXLER SYNDROME 207410 FAMILIAL SCAPHOCEPHALY SYNDROME 609579 JACKSON-WEISS SYNDROME 123150 APERT SYNDROME 101200 CROUZON SYNDROME 123500 LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 ACROCEPHALOSYNDACTYLY TYPE V 101600 Tags
Green Green List (high evidence)	FGFR3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THANATOPHORIC DYSPLASIA TYPE 2 187601 THANATOPHORIC DYSPLASIA TYPE 1 187600 MUENKE SYNDROME 602849 ACHONDROPLASIA 100800 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247 CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474 LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 HYPOCHONDROPLASIA 146000 Tags
Green Green List (high evidence)	FH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FUMARASE DEFICIENCY 606812 Tags
Green Green List (high evidence)	FHL1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696 Tags
Green Green List (high evidence)	FIG4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340 Tags
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRUCK SYNDROME TYPE 1 Tags
Green Green List (high evidence)	FKBP14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS Tags
Green Green List (high evidence)	FKRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 613153 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155 Tags
Green Green List (high evidence)	FKTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588 CARDIOMYOPATHY DILATED TYPE 1X 611615 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152 Tags
Green Green List (high evidence)	FLAD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Tags
Green Green List (high evidence)	FLNA	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 DD-Gene2Phenotype Expert Review Green Phenotypes PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049 FRONTOMETAPHYSEAL DYSPLASIA 305620 FG SYNDROME TYPE 2 300321 X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048 MELNICK-NEEDLES SYNDROME 309350 Childhood Interstitial Lung Disease EPILEPTIC ENCEPHALOPATHY OTOPALATODIGITAL SYNDROME TYPE 1 311300 OTOPALATODIGITAL SYNDROME TYPE 2 304120 TERMINAL OSSEOUS DYSPLASIA 300244 Tags mosaicism
Green Green List (high evidence)	FLNB	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250 ATELOSTEOGENESIS TYPE 3 108721 ATELOSTEOGENESIS TYPE 1 108720 BOOMERANG DYSPLASIA 112310 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460 Tags
Green Green List (high evidence)	FLT4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MILROY DISEASE 153100 Tags
Green Green List (high evidence)	FLVCR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033 Tags
Green Green List (high evidence)	FLVCR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME 225790 Tags
Green Green List (high evidence)	FMN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	FMR1	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 DD-Gene2Phenotype Expert Review Green Phenotypes FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 FRAGILE X SYNDROME, OMIM:300624 Tags
Green Green List (high evidence)	FN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Spondylometaphyseal Dysplasia with Corner Fractures 184255 Tags
Green Green List (high evidence)	FOLR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068 Tags
Green Green List (high evidence)	FOXC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IRIDOGONIODYSGENESIS ANOMALY 601631 AXENFELD-RIEGER SYNDROME TYPE 3 602482 PETERS ANOMALY 604229 Tags
Green Green List (high evidence)	FOXC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LYMPHEDEMA-DISTICHIASIS SYNDROME 153400 HEREDITARY LYMPHEDEMA II 241432 Tags
Green Green List (high evidence)	FOXE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BAMFORTH-LAZARUS SYNDROME 241850 Tags
Green Green List (high evidence)	FOXE3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL PRIMARY APHAKIA 610256 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 Tags
Green Green List (high evidence)	FOXF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380 Tags
Green Green List (high evidence)	FOXG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL VARIANT OF RETT SYNDROME 613454 Tags
Green Green List (high evidence)	FOXJ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry Tags
Green Green List (high evidence)	FOXL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100 Tags
Green Green List (high evidence)	FOXN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705 Tags
Green Green List (high evidence)	FOXP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 613670 Tags
Green Green List (high evidence)	FOXP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPEECH-LANGUAGE DISORDER 1 602081 Tags
Green Green List (high evidence)	FOXP3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IPEX SYNDROME 304790 Tags
Green Green List (high evidence)	FOXRED1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	FRA10AC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRA10AC1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	FRAS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRASER SYNDROME 219000 Tags
Green Green List (high evidence)	FREM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MANITOBA OCULOTRICHOANAL SYNDROME 248450 Tags
Green Green List (high evidence)	FREM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRASER SYNDROME 219000 Tags
Green Green List (high evidence)	FRMD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRMD5-related developmental disorder Tags de novo
Green Green List (high evidence)	FRMPD4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability Tags
Green Green List (high evidence)	FRRS1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epileptic encephalopathy with continuous spike-and-wave during sleep Tags
Green Green List (high evidence)	FTCD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 229100 Tags
Green Green List (high evidence)	FTL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886 Tags
Green Green List (high evidence)	FTSJ1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 44 309549 Tags
Green Green List (high evidence)	FUCA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FUCOSIDOSIS 230000 Tags
Green Green List (high evidence)	FUK	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION Tags new-gene-name
Green Green List (high evidence)	FUT8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital Disorder of Glycosylation with Defective Fucosylation Tags
Green Green List (high evidence)	FXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FXR1-related congenital myopathy Tags
Green Green List (high evidence)	FYCO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019 Tags
Green Green List (high evidence)	FZD5	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Microphthalmia/coloboma 11, OMIM:620731 Tags
Green Green List (high evidence)	FZD6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 614157 Tags
Green Green List (high evidence)	FZR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FZR1-related intellectual disability and epilepsy Tags
Green Green List (high evidence)	GAA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE TYPE II 232300 Tags
Green Green List (high evidence)	GABBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GABBR1-associated neurodevelopmental disorder Tags
Green Green List (high evidence)	GABBR2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	GABRA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JUVENILE MYOCLONIC EPILEPSY 611136 EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	GABRB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epilepsy and intellectual disability Tags
Green Green List (high evidence)	GABRB3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHIES CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269 Tags
Green Green List (high evidence)	GABRG2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3 611277 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 611277 Tags
Green Green List (high evidence)	GALC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KRABBE DISEASE 245200 Tags
Green Green List (high evidence)	GALE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPIMERASE-DEFICIENCY GALACTOSEMIA 230350 Tags
Green Green List (high evidence)	GALK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALACTOSEMIA II 230200 Tags
Green Green List (high evidence)	GALNS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A 253000 Tags
Green Green List (high evidence)	GALT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALACTOSEMIA 230400 Tags
Green Green List (high evidence)	GAMT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736 Tags
Green Green List (high evidence)	GAN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Giant axonal neuropathy 1 Tags
Green Green List (high evidence)	GAS2L2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Impaired Cilia Orientation and Mucociliary Clearance Tags
Green Green List (high evidence)	GAS8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green Green List (high evidence)	GATA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EMBERGER SYNDROME 614038 Tags
Green Green List (high evidence)	GATA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255 Tags
Green Green List (high evidence)	GATA4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATRIAL SEPTAL DEFECT TYPE 2 607941 Tags
Green Green List (high evidence)	GATA6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001 ATRIOVENTRICULAR SEPTAL DEFECT 5 614474 ATRIAL SEPTAL DEFECT 9 614475 Tags
Green Green List (high evidence)	GATAD2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSPECIFIC SEVERE ID Tags
Green Green List (high evidence)	GATM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718 Tags
Green Green List (high evidence)	GBA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GAUCHER DISEASE TYPE 3 231000 GAUCHER DISEASE PERINATAL LETHAL 608013 GAUCHER DISEASE 230800 GAUCHER DISEASE TYPE 1 230800 GAUCHER DISEASE TYPE 2 230900 GAUCHER DISEASE TYPE 3C 231005 Tags new-gene-name
Green Green List (high evidence)	GBA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GBE1-associated Glycogen storage disease IV, OMIM:232500 Tags
Green Green List (high evidence)	GCDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUTARICACIDEMIA TYPE 1 231670 Tags
Green Green List (high evidence)	GCH1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSTONIA TYPE 5 128230 GTP CYCLOHYDROLASE 1 DEFICIENCY 233910 Tags
Green Green List (high evidence)	GCSH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCINE ENCEPHALOPATHY 605899 Tags
Green Green List (high evidence)	GDF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONOTRUNCAL HEART MALFORMATIONS 217095 TETRALOGY OF FALLOT 187500 TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854 Tags
Green Green List (high evidence)	GDF11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122 Tags
Green Green List (high evidence)	GDF5	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY TYPE C 113100 ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700 ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250 DU PAN SYNDROME 228900 SYMPHALANGISM PROXIMAL SYNDROME 185800 BRACHYDACTYLY TYPE A1 112500 BRACHYDACTYLY TYPE A2 112600 MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017 Tags
Green Green List (high evidence)	GDF6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KLIPPEL-FEIL SYNDROME TYPE 1 118100 MICROPHTHALMIA ISOLATED TYPE 4 613094 Tags
Green Green List (high evidence)	GEMIN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913 Tags
Green Green List (high evidence)	GEMIN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333 Tags
Green Green List (high evidence)	GFAP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALEXANDER DISEASE 203450 Tags
Green Green List (high evidence)	GFM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 609060 Tags
Green Green List (high evidence)	GHR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PITUITARY DWARFISM II 262500 Tags
Green Green List (high evidence)	GIGYF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GIGYF1-related developmental disorder (monoallelic) Tags gene-checked
Green Green List (high evidence)	GJA1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HALLERMANN-STREIFF SYNDROME, OMIM:234100 SYNDACTYLY TYPE 3, OMIM:186100 AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200 HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 Tags
Green Green List (high evidence)	GJA3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885 Tags
Green Green List (high evidence)	GJA8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT ZONULAR PULVERULENT TYPE 1 116200 CATARACT-MICROCORNEA SYNDROME 116150 Tags
Green Green List (high evidence)	GJB3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 DEAFNESS, AUTOSOMAL RECESSIVE Tags
Green Green List (high evidence)	GJC2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA, 44 613206 LEUKODYSTROPHY, HYPOMYELINATING, 2 608804 LYMPHEDEMA, HEREDITARY, IC 613480 Tags
Green Green List (high evidence)	GK	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCEROL KINASE DEFICIENCY 307030 Tags
Green Green List (high evidence)	GLB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GM1-GANGLIOSIDOSIS TYPE 1 230500 MUCOPOLYSACCHARIDOSIS TYPE 4B 253010 GM1-GANGLIOSIDOSIS TYPE 2 230600 GM1-GANGLIOSIDOSIS TYPE 3 230650 Tags
Green Green List (high evidence)	GLDC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLDC-RELATED GLYCINE ENCEPHALOPATHY 605899 Tags
Green Green List (high evidence)	GLDN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Lethal arthroogryposis Tags
Green Green List (high evidence)	GLE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890 Tags
Green Green List (high evidence)	GLI2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLI2-RELATED HOLOPROSENCEPHALY 261768 Tags
Green Green List (high evidence)	GLI3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PREAXIAL POLYDACTYLY TYPE IV 269157 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700 POSTAXIAL POLYDACTYLY TYPE A 174200 PALLISTER-HALL SYNDROME 146510 Tags
Green Green List (high evidence)	GLIS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHRONOPHTHISIS 7 611498 Tags
Green Green List (high evidence)	GLIS3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199 Tags
Green Green List (high evidence)	GLMN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLOMUVENOUS MALFORMATIONS 138000 Tags
Green Green List (high evidence)	GLRA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLRA1-related hyperexplexia, biallelic, OMIM:149400 GLRA1-related hyperexplexia, monoallelic, OMIM:149400 Tags
Green Green List (high evidence)	GLRB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLRB-related hyperexplexia, biallelic, OMIM:614619 GLRB-related hyperexplexia, monoallelic Tags
Green Green List (high evidence)	GLUD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762 Tags
Green Green List (high evidence)	GLUL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015 Tags
Green Green List (high evidence)	GM2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GM2-GANGLIOSIDOSIS TYPE AB 272750 Tags
Green Green List (high evidence)	GMNN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome Tags
Green Green List (high evidence)	GMPPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION Tags
Green Green List (high evidence)	GMPPB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350 Tags
Green Green List (high evidence)	GNA11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital Hemangioma Tags mosaicism
Green Green List (high evidence)	GNA14	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital vascular tumours Tags gene-checked mosaicism
Green Green List (high evidence)	GNAI1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 Tags
Green Green List (high evidence)	GNAI3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AURICULOCONDYLAR SYNDROME 602483 Tags
Green Green List (high evidence)	GNAO1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	GNAQ	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital Hemangioma Tags mosaicism
Green Green List (high evidence)	GNAS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 Tags mosaicism
Green Green List (high evidence)	GNB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Green Green List (high evidence)	GNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GNB2-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	GNB5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Sinus Bradycardia and Cognitive Disability Tags
Green Green List (high evidence)	GNPAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765 Tags
Green Green List (high evidence)	GNPTAB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE II 252500 MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600 Tags
Green Green List (high evidence)	GNPTG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605 Tags
Green Green List (high evidence)	GNS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3D 252940 Tags
Green Green List (high evidence)	GOLGA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GOLGA2-related myopathy, seizures and microcephaly Tags
Green Green List (high evidence)	GORAB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Geroderma osteodysplasticum Tags
Green Green List (high evidence)	GOT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Malate-Aspartate Shuttle-Related Encephalopathy Tags
Green Green List (high evidence)	GPAA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia Tags
Green Green List (high evidence)	GPC3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870 Tags
Green Green List (high evidence)	GPC4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KEIPERT SYNDROME 301026 Tags
Green Green List (high evidence)	GPC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OMODYSPLASIA TYPE 1 (OMOD1) [ 258315 Tags
Green Green List (high evidence)	GPSM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHUDLEY-MCCULLOUGH SYNDROME Tags
Green Green List (high evidence)	GPX4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 250220 Tags
Green Green List (high evidence)	GREB1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Renal hypodysplasia/aplasia 3, OMIM:617805 Tags gene-checked
Green Green List (high evidence)	GRHL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029 Tags
Green Green List (high evidence)	GRHL3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VAN DER WOUDE SYNDROME 119300 Tags
Green Green List (high evidence)	GRIA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GRIA1-related neurodevelopmental disorder Tags de novo
Green Green List (high evidence)	GRIA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GRIA2-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	GRIA3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 94 300699 Tags
Green Green List (high evidence)	GRID2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GRID2-related cerebellar ataxia, biallelic GRID2-related cerebellar ataxia, monoallelic Tags
Green Green List (high evidence)	GRIK2	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092 Tags
Green Green List (high evidence)	GRIN1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 intellectual disability, autosomal dominant 8 MONDO:0013655 Tags
Green Green List (high evidence)	GRIN2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LANDAU-KLEFFNER SYNDROME 245570 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971 Tags
Green Green List (high evidence)	GRIN2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY AUTISM 209850 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970 Tags
Green Green List (high evidence)	GRIN2D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Tags
Green Green List (high evidence)	GRM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL CEREBELLAR ATAXIA 614831 Tags
Green Green List (high evidence)	GRM6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270 Tags
Green Green List (high evidence)	GRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GRM7-related neurodevelopmental disorder Tags
Green Green List (high evidence)	GSPT2	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XL INTELLECTUAL DISABILITY Tags gene-checked
Green Green List (high evidence)	GTF2E2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DNA Repair-Proficient Trichothiodystrophy Tags
Green Green List (high evidence)	GTF2H5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 Tags
Green Green List (high evidence)	GTPBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JABERI-ELAHI SYNDROME, OMIM:617988 Tags
Green Green List (high evidence)	GTPBP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY Tags
Green Green List (high evidence)	GUCY2C	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MECONIUM ILEUS FAMILIAL DIARRHEA DIARRHEA 6 614616 Tags
Green Green List (high evidence)	GUSB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 7 253220 Tags
Green Green List (high evidence)	GZF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LARSEN SYNDROME Tags
Green Green List (high evidence)	H3F3A	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Craniofacial with neurodevelopment disorders Tags new-gene-name
Green Green List (high evidence)	H3F3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes H3F3B associated neurodevelopmental disorder Tags new-gene-name
Green Green List (high evidence)	HAAO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NAD deficiency disorder Tags
Green Green List (high evidence)	HACD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HACD1-related congenital myopathy Tags
Green Green List (high evidence)	HACE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HACE1 related disorder Tags
Green Green List (high evidence)	HADH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530 Tags
Green Green List (high evidence)	HADHA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY 609016 Tags
Green Green List (high evidence)	HAX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738 Tags
Green Green List (high evidence)	HCCS	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 DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 7 309801 Tags
Green Green List (high evidence)	HCFC1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, X-LINKED 3 309541 COBALAMIN DISORDER Tags
Green Green List (high evidence)	HCN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871 Tags
Green Green List (high evidence)	HDAC4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430 Tags
Green Green List (high evidence)	HDAC8	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 DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR Cornelia de Lange Syndrome HDAC8 X-linked dominant Tags
Green Green List (high evidence)	HECW2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language Tags
Green Green List (high evidence)	HERC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011 Tags
Green Green List (high evidence)	HERC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HERC2-related neurodevelopmental disorder, OMIM:615516 Tags
Green Green List (high evidence)	HESX1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEPTOOPTIC DYSPLASIA 256657 HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358 Tags
Green Green List (high evidence)	HEXA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GM2-GANGLIOSIDOSIS TYPE 1 272800 Tags
Green Green List (high evidence)	HEXB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GM2-GANGLIOSIDOSIS TYPE 2 268800 Tags
Green Green List (high evidence)	HGSNAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3C 252930 Tags
Green Green List (high evidence)	HIBCH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HIBCH DEFICIENCY 250620 Tags
Green Green List (high evidence)	HINT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE 137200 Tags
Green Green List (high evidence)	HIST1H1E	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Childhood overgrowth Tags new-gene-name
Green Green List (high evidence)	HIST1H4C	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HIST1H4C Tags new-gene-name
Green Green List (high evidence)	HIST1H4J	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual disability with facial dysmorphism Tags new-gene-name
Green Green List (high evidence)	HIVEP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HIVEP2 associated syndromic developmental delay with intellectual disability Tags
Green Green List (high evidence)	HK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HK1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	HLCS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018 Tags
Green Green List (high evidence)	HMGB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome HMGB1-related intellectual disability Tags gene-checked
Green Green List (high evidence)	HMGCL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450 Tags
Green Green List (high evidence)	HMGCS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911 Tags
Green Green List (high evidence)	HMX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OCULOAURICULAR SYNDROME 612109 Tags
Green Green List (high evidence)	HNF1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL CYSTS AND DIABETES SYNDROME 137920 Tags
Green Green List (high evidence)	HNF4A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850 ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353 Tags
Green Green List (high evidence)	HNRNPA2B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Early-onset oculopharyngeal muscular dystrophy Tags
Green Green List (high evidence)	HNRNPD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HNRNPD-related developmental disorder (monoallelic) Tags gene-checked
Green Green List (high evidence)	HNRNPH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HNRNPH1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	HNRNPH2	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 DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental Disorder in Females Tags
Green Green List (high evidence)	HNRNPK	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Au-Kline Syndrome Tags
Green Green List (high evidence)	HNRNPR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 Tags
Green Green List (high evidence)	HNRNPU	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	HOXA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BOSLEY-SALIH-ALORAINY SYNDROME 601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME 601536 Tags
Green Green List (high evidence)	HOXA13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HAND-FOOT-GENITAL SYNDROME 140000 Tags
Green Green List (high evidence)	HOXB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744 Tags
Green Green List (high evidence)	HOXC13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PURE HAIR AND NAIL ECTODERMAL DYSPLASIA 614931 Tags
Green Green List (high evidence)	HOXD13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713 VACTERL ASSOCIATION 192350 BRACHYDACTYLY TYPE E 113300 SYNPOLYDACTYLY 1 186000 SYNDACTYLY TYPE 5 186300 BRACHYDACTYLY TYPE D 113200 Tags
Green Green List (high evidence)	HPD	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TYROSINEMIA TYPE 3 276710 HAWKINSINURIA 140350 Tags
Green Green List (high evidence)	HPDL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HPDL Neurodegenerative Disease Tags gene-checked
Green Green List (high evidence)	HPGD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOOSTEOARTHROPATHY 259100 Tags
Green Green List (high evidence)	HPRT1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LESCH-NYHAN SYNDROME 300322 GOUT HPRT-RELATED 300323 Tags
Green Green List (high evidence)	HPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HERMANSKY-PUDLAK SYNDROME 203300 Tags
Green Green List (high evidence)	HPSE2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UROFACIAL SYNDROME 236730 Tags
Green Green List (high evidence)	HR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALOPECIA UNIVERSALIS 146550 ATRICHIA WITH PAPULAR LESIONS 209500 Tags
Green Green List (high evidence)	HRAS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 218040 COSTELLO SYNDROME 218040 Tags
Green Green List (high evidence)	HS2ST1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HS2ST1-related Developmental Disorder Tags
Green Green List (high evidence)	HSD17B10	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY 300438 Tags
Green Green List (high evidence)	HSD17B4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes D-BIFUNCTIONAL PROTEIN DEFICIENCY 261515 PERRAULT SYNDROME Tags
Green Green List (high evidence)	HSD3B7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765 Tags
Green Green List (high evidence)	HSF4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT ZONULAR HSF4-RELATED 116800 CATARACT MARNER TYPE 116800 Tags
Green Green List (high evidence)	HSPD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 Tags
Green Green List (high evidence)	HSPG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHWARTZ-JAMPEL SYNDROME 255800 DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410 Tags
Green Green List (high evidence)	HUWE1	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 DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706 Tags
Green Green List (high evidence)	HYAL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 9 601492 Tags
Green Green List (high evidence)	HYAL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies Tags gene-checked
Green Green List (high evidence)	HYDIN	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 5 608647 Tags
Green Green List (high evidence)	HYLS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYDROLETHALUS SYNDROME TYPE 1 236680 Tags
Green Green List (high evidence)	IARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy Tags new-gene-name
Green Green List (high evidence)	IDS	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 2 309900 Tags
Green Green List (high evidence)	IDUA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015 MUCOPOLYSACCHARIDOSIS TYPE 1S 607016 MUCOPOLYSACCHARIDOSIS TYPE 1H 607014 Tags
Green Green List (high evidence)	IFIH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 SINGLETON-MERTEN SYNDROME, OMIM:182250 Tags
Green Green List (high evidence)	IFITM5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOGENESIS IMPERFECTA TYPE V 610967 Tags
Green Green List (high evidence)	IFT122	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOECTODERMAL DYSPLASIA 218330 Tags
Green Green List (high evidence)	IFT140	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAINZER-SALDINO SYNDROME 266920 Tags
Green Green List (high evidence)	IFT172	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JEUNE SYNDROME MAINZER-SALDINO SYNDROME 266920 Tags
Green Green List (high evidence)	IFT43	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOECTODERMAL DYSPLASIA TYPE 3 614099 Tags
Green Green List (high evidence)	IFT74	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IFT74-associated ciliopathy, OMIM:617119 Tags
Green Green List (high evidence)	IFT80	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ASPHYXIATING THORACIC DYSTROPHY 2 611263 Tags
Green Green List (high evidence)	IGF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Insulin-like growth factor I deficiency, OMIM:608747 Tags
Green Green List (high evidence)	IGF1R	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450 Tags
Green Green List (high evidence)	IGF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860 Tags
Green Green List (high evidence)	IGFBP7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 614224 Tags
Green Green List (high evidence)	IGHMBP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320 Tags
Green Green List (high evidence)	IGSF1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888 Tags
Green Green List (high evidence)	IHH	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROCAPITOFEMORAL DYSPLASIA 607778 BRACHYDACTYLY, TYPE A1 112500 Tags
Green Green List (high evidence)	IKBKG	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 DD-Gene2Phenotype Expert Review Green Phenotypes SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636 IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584 ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301 ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291 INCONTINENTIA PIGMENTI 308300 Tags
Green Green List (high evidence)	IL11RA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal Recessive Craniosynostosis Tags
Green Green List (high evidence)	IL1RAPL1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 21 300143 Tags
Green Green List (high evidence)	IMPAD1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078 Tags new-gene-name
Green Green List (high evidence)	INPP5E	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME TYPE 1 213300 MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156 Tags
Green Green List (high evidence)	INPP5K	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability Tags
Green Green List (high evidence)	INPPL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OPSISMODYSPLASIA 258480 Tags
Green Green List (high evidence)	IPO8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IPO8-related syndromic thoracic aortic aneurysm Tags
Green Green List (high evidence)	IQSEC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability, Developmental Delay, and Short Stature Tags
Green Green List (high evidence)	IQSEC2	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 DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 1 309530 Tags
Green Green List (high evidence)	IREB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IREB2-related neurodevelopmental disorder Tags
Green Green List (high evidence)	IRF2BPL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurological Phenotypes Tags
Green Green List (high evidence)	IRF6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VAN DER WOUDE SYNDROME 119300 POPLITEAL PTERYGIUM SYNDROME 119500 Tags
Green Green List (high evidence)	IRX5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174 Tags
Green Green List (high evidence)	ISPD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WALKER WARBURG SYNDROME 614643 Tags new-gene-name
Green Green List (high evidence)	ITCH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 613385 Tags
Green Green List (high evidence)	ITGA3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748 Tags
Green Green List (high evidence)	ITGA7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL MUSCULAR DYSTROPHY 607855 Tags
Green Green List (high evidence)	ITGA8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL HYPODYSPLASIA/APLASIA 1 191830 Tags
Green Green List (high evidence)	ITPR1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Gillespie Syndrome, OMIM:206700 Gillespie Syndrome, monoallelic, OMIM:206700 SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 Tags
Green Green List (high evidence)	IVD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ISOVALERIC ACIDEMIA 243500 Tags
Green Green List (high evidence)	JAG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALAGILLE SYNDROME 279357 Tags
Green Green List (high evidence)	JAG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JAG2-related muscular dystrophy Tags
Green Green List (high evidence)	JAGN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE CONGENITAL NEUTROPENIA Tags
Green Green List (high evidence)	JAK3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802 Tags
Green Green List (high evidence)	JAM3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730 Tags
Green Green List (high evidence)	JARID2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JARID2-related Neurodevelopmental Disorder Tags
Green Green List (high evidence)	KANSL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443 Tags
Green Green List (high evidence)	KARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916 KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 Tags new-gene-name
Green Green List (high evidence)	KAT5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KAT5-related Neurodevelopmental Syndrome Tags
Green Green List (high evidence)	KAT6A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268 Tags
Green Green List (high evidence)	KAT6B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE GENITOPATELLAR SYNDROME 606170 Tags
Green Green List (high evidence)	KATNB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS Tags
Green Green List (high evidence)	KBTBD13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEMALINE MYOPATHY 6 609273 Tags
Green Green List (high evidence)	KCNA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Loss-of-function EPILEPTIC ENCEPHALOPATHY Gain-of-function Tags
Green Green List (high evidence)	KCNB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056 Tags
Green Green List (high evidence)	KCNC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187 Tags
Green Green List (high evidence)	KCNC3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINOCEREBELLAR ATAXIA TYPE 13 605259 Tags
Green Green List (high evidence)	KCND3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KCND3-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	KCNE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695 Tags
Green Green List (high evidence)	KCNH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TEMPLE BARRAISTER SYNDROME 611816 Tags
Green Green List (high evidence)	KCNH5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental and epileptic encephalopathy 112, OMIM:620537 Tags
Green Green List (high evidence)	KCNJ10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780 Tags
Green Green List (high evidence)	KCNJ11	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090 FAMILIAL HYPERINSULINISM 3272 Tags
Green Green List (high evidence)	KCNJ6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KEPPEN-LUBINSKY SYNDROME 614098 Tags
Green Green List (high evidence)	KCNJ8	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Cantu syndrome Tags gene-checked
Green Green List (high evidence)	KCNK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KCNK3-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	KCNK4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth Tags
Green Green List (high evidence)	KCNMA1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446 Tags
Green Green List (high evidence)	KCNN3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZIMMERMANN-LABAND SYNDROME Tags
Green Green List (high evidence)	KCNQ1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400 Tags
Green Green List (high evidence)	KCNQ2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720 BENIGN NEONATAL EPILEPSY TYPE 1 121200 Tags
Green Green List (high evidence)	KCNQ3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KCNQ3 syndrome Tags
Green Green List (high evidence)	KCNQ5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability with or without Epileptic Encephalopathy Tags
Green Green List (high evidence)	KCNT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959 MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Tags
Green Green List (high evidence)	KCTD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCALP-EAR-NIPPLE SYNDROME Tags
Green Green List (high evidence)	KCTD7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726 Tags
Green Green List (high evidence)	KDELR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KDELR2-related Osteogenesis Imperfecta Tags
Green Green List (high evidence)	KDM1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental delay and distinctive facial features Tags
Green Green List (high evidence)	KDM2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KDM2B-related neurodevelopmental disorder Tags gene-checked
Green Green List (high evidence)	KDM3B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Diets-Jongmans syndrome, OMIM:618846 Diets-Jongmans syndrome, MONDO:0030012 Tags
Green Green List (high evidence)	KDM4B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KDM4B-related Developmental Disorder Tags
Green Green List (high evidence)	KDM5B	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autism Tags
Green Green List (high evidence)	KDM5C	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534 Tags
Green Green List (high evidence)	KDM6A	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 DD-Gene2Phenotype Expert Review Green Phenotypes KABUKI SYNDROME 2 300867 Tags
Green Green List (high evidence)	KDM6B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION KDM6B-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	KIAA0586	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 614615 Tags
Green Green List (high evidence)	KIAA1109	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Brain atrophy, Dandy Walker and Contractures Tags new-gene-name
Green Green List (high evidence)	KIDINS220	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity. Tags
Green Green List (high evidence)	KIF11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950 Tags
Green Green List (high evidence)	KIF14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe microcephaly and short stature Tags
Green Green List (high evidence)	KIF1A	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213 NESCAV SYNDROME, 614255 Tags
Green Green List (high evidence)	KIF1BP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460 Tags new-gene-name
Green Green List (high evidence)	KIF22	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546 Tags
Green Green List (high evidence)	KIF2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. Tags
Green Green List (high evidence)	KIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KIF5A-associated severe neonatal myoclonus, OMIM:617235 Tags
Green Green List (high evidence)	KIF5B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KIF5B-related disease Tags gene-checked
Green Green List (high evidence)	KIF5C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282 Tags
Green Green List (high evidence)	KIF7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROCALLOSAL SYNDROME 200990 AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	KIT	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HUMAN PIEBALDISM 172800 Tags
Green Green List (high evidence)	KLF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673 Tags
Green Green List (high evidence)	KLF7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KLF7-related developmental disorder Tags gene-checked
Green Green List (high evidence)	KLHL40	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348 Tags
Green Green List (high evidence)	KLHL7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa Tags
Green Green List (high evidence)	KMT2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WIEDEMANN-STEINER SYNDROME 605130 Tags
Green Green List (high evidence)	KMT2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Complex early-onset dystonia Tags
Green Green List (high evidence)	KMT2C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	KMT2D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KABUKI SYNDROME 147920 Tags
Green Green List (high evidence)	KMT2E	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Neurodevelopmental disorder and Epilepsy 618512 Tags
Green Green List (high evidence)	KMT5B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KMT5B syndrome Tags
Green Green List (high evidence)	KPTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES Tags
Green Green List (high evidence)	KRAS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 NOONAN SYNDROME TYPE 3 609942 Tags
Green Green List (high evidence)	KRIT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 Tags
Green Green List (high evidence)	KRT74	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 613981 Tags
Green Green List (high evidence)	L1CAM	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350 SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350 HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000 PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100 Tags
Green Green List (high evidence)	L2HGDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes L-2-HYDROXYGLUTARIC ACIDURIA 236792 Tags
Green Green List (high evidence)	LAMA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960 AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	LAMA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL MUSCULAR DYSTROPHY 607855 Tags
Green Green List (high evidence)	LAMB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES 615191 Tags
Green Green List (high evidence)	LAMC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OCCIPITAL CORTICAL MALFORMATIONS 614115 Tags
Green Green List (high evidence)	LAMP2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DANON DISEASE 300257 Tags
Green Green List (high evidence)	LARGE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840 Tags
Green Green List (high evidence)	LARP7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALAZAMI SYNDROME 615071 Tags
Green Green List (high evidence)	LARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERRAULT SYNDROME Tags
Green Green List (high evidence)	LBR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140 Tags
Green Green List (high evidence)	LEMD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Nuclear Envelopathy with Early Progeroid Appearance Tags
Green Green List (high evidence)	LEMD3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MELORHEOSTOSIS 155950 BUSCHKE-OLLENDORFF SYNDROME 166700 Tags
Green Green List (high evidence)	LETM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LETM1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	LFNG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813 Tags
Green Green List (high evidence)	LGI4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA Tags
Green Green List (high evidence)	LHX3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750 Tags
Green Green List (high evidence)	LHX4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135 Tags
Green Green List (high evidence)	LIAS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation Tags
Green Green List (high evidence)	LIFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Stuve-Wiedeman syndrome, OMIM:601559 Tags
Green Green List (high evidence)	LIG4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION 602450 LIG4 SYNDROME 606593 Tags
Green Green List (high evidence)	LINGO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LINGO1 related intellectual disability with microcephaly, speech and motor delay Tags
Green Green List (high evidence)	LINS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	LIPN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ICHTHYOSIS, LAMELLAR, 4 613943 Tags
Green Green List (high evidence)	LIPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Tags
Green Green List (high evidence)	LIPT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy Tags
Green Green List (high evidence)	LMBRD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF 277380 Tags
Green Green List (high evidence)	LMNA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 Tags
Green Green List (high evidence)	LMNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LMNB1-associated developmental disorder Tags
Green Green List (high evidence)	LMNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LMNB2-related Primary Microcephaly Tags
Green Green List (high evidence)	LMOD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEMALINE MYOPATHY 10, OMIM:616165 Tags
Green Green List (high evidence)	LMX1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NAIL-PATELLA SYNDROME 161200 Tags
Green Green List (high evidence)	LNPK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Recessive Neurodevelopmental Syndrome Tags
Green Green List (high evidence)	LONP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CODAS SYNDROME 600373 Tags
Green Green List (high evidence)	LRAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 608553 Tags
Green Green List (high evidence)	LRBA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA 614700 Tags
Green Green List (high evidence)	LRIG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UROFACIAL SYNDROME 236730 Tags
Green Green List (high evidence)	LRIT3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS 615058 Tags
Green Green List (high evidence)	LRP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DONNAI-BARROW SYNDROME, OMIM:222448 INTELLECTUAL DISABILITY, OMIM:616579 Tags
Green Green List (high evidence)	LRP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENANI-LENZ SYNDACTYLY SYNDROME 212780 Tags
Green Green List (high evidence)	LRP5	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 601813 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770 HIGH BONE MASS TRAIT 601884 OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634 ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750 Tags
Green Green List (high evidence)	LRPPRC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111 Tags
Green Green List (high evidence)	LRRC56	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mucociliary Clearance and Laterality Defects Tags gene-checked
Green Green List (high evidence)	LRRC6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DISKINESIA 614935 Tags new-gene-name
Green Green List (high evidence)	LTBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LTBP1-related cutis laxa and craniosynostosis Tags
Green Green List (high evidence)	LTBP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROSPHEROPHAKIA 251750 PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086 Tags
Green Green List (high evidence)	LTBP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216 Tags
Green Green List (high evidence)	LYST	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHEDIAK-HIGASHI SYNDROME 214500 Tags
Green Green List (high evidence)	LZTR1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Noonan syndrome Tags
Green Green List (high evidence)	MAB21L1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Cerebello-Oculo-Facio-Genital syndrome Tags
Green Green List (high evidence)	MAB21L2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA, SYNDROMIC 14 615877 Tags
Green Green List (high evidence)	MACF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Defects in Neuronal Migration and Axon Guidance Tags
Green Green List (high evidence)	MADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MADD-related developmental disorder Tags
Green Green List (high evidence)	MAF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202 CATARACT CONGENITAL CERULEAN TYPE 4 610202 Tags
Green Green List (high evidence)	MAFB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300 Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects Tags
Green Green List (high evidence)	MAGEL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Schaaf-Yang syndrome, OMIM:615547 Tags
Green Green List (high evidence)	MAMLD1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes X-LINKED HYPOSPADIAS TYPE 2 300758 Tags
Green Green List (high evidence)	MAN1B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	MAN2B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LYSOSOMAL ALPHA-MANNOSIDOSIS 248500 Tags
Green Green List (high evidence)	MAN2C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAN2C1-associated neurodevelopmental disorder with cerebral malformations Tags
Green Green List (high evidence)	MANBA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LYSOSOMAL BETA-MANNOSIDOSIS 248510 Tags
Green Green List (high evidence)	MAOA	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRUNNER SYNDROME 300615 Tags
Green Green List (high evidence)	MAP2K1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 Tags
Green Green List (high evidence)	MAP2K2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 Tags
Green Green List (high evidence)	MAP3K1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 46XY SEX REVERSAL 6 613762 Tags
Green Green List (high evidence)	MAP3K7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRONTOMETAPHYSEAL DYSPLASIA 305620 Cardiospondylocarpofacial syndrome Tags
Green Green List (high evidence)	MAPK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAPK1-related Neurodevelopmental Disorder Tags
Green Green List (high evidence)	MAPK8IP3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability with Variable Brain Anomalies Tags
Green Green List (high evidence)	MAPKAPK5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAPKAPK5-associated syndrome with synpolydactyly Tags
Green Green List (high evidence)	MAPRE2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Circumferential Skin Creases Kunze Type Tags
Green Green List (high evidence)	MASP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3MC SYNDROME 1 257920 Tags
Green Green List (high evidence)	MAST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAST1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	MAT1A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 250850 Tags
Green Green List (high evidence)	MATN3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078 Tags
Green Green List (high evidence)	MBD5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHMT1-LIKE INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	MBOAT7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability Accompanied by Epilepsy and Autistic Features Tags
Green Green List (high evidence)	MC2R	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUCOCORTICOID DEFICIENCY 1 202200 Tags
Green Green List (high evidence)	MCCC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200 Tags
Green Green List (high evidence)	MCCC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210 Tags
Green Green List (high evidence)	MCEE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONYL-COA EPIMERASE DEFICIENCY 251120 Tags
Green Green List (high evidence)	MCOLN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOLIPIDOSIS IV 252650 Tags
Green Green List (high evidence)	MCPH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY PRIMARY TYPE 1 251200 Tags
Green Green List (high evidence)	MDH2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Early-Onset Severe Encephalopathy Tags
Green Green List (high evidence)	MECOM	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Tags
Green Green List (high evidence)	MECP2	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 DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260 MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055 CHROMOSOME XQ28 DUPLICATION SYNDROME 300815 ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673 RETT SYNDROME (RTT)[ 312750 Tags
Green Green List (high evidence)	MECR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Childhood-Onset Dystonia and Optic Atrophy Tags
Green Green List (high evidence)	MED11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MED11-associated neurodevelopmental disorder Tags
Green Green List (high evidence)	MED12	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 DD-Gene2Phenotype Expert Review Green Phenotypes OPITZ-KAVEGGIA SYNDROME 305450 LUJAN-FRYNS SYNDROME 309520 Tags
Green Green List (high evidence)	MED13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MED13 - Neurodevelopment disorder Tags
Green Green List (high evidence)	MED13L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	MED17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY 613668 Tags
Green Green List (high evidence)	MED25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449 Tags
Green Green List (high evidence)	MED27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MED27-related neurodevelopmental disorder Tags
Green Green List (high evidence)	MEF2C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443 Tags
Green Green List (high evidence)	MEGF10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399 Tags
Green Green List (high evidence)	MEGF8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARPENTER SYNDROME 201000 Tags
Green Green List (high evidence)	MEIS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIS2-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	MEOX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KLIPPEL-FEIL ANOMALY 118100 Tags
Green Green List (high evidence)	MESD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOGENESIS IMPERFECTA Tags
Green Green List (high evidence)	MESP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 608681 Tags
Green Green List (high evidence)	METTL23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METTL23-related Intellectual Disability Tags
Green Green List (high evidence)	METTL5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal-Recessive Intellectual Disability and Microcephaly Tags gene-checked
Green Green List (high evidence)	MFF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, OMIM:617086 Tags
Green Green List (high evidence)	MFN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MFN2-related developmental disorder Tags
Green Green List (high evidence)	MFRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NANOPHTHALMOS 2 609549 MICROPHTHALMIA ISOLATED TYPE 5 611040 Tags
Green Green List (high evidence)	MFSD2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Microcephaly 15, primary, autosomal recessive, 616486 Tags
Green Green List (high evidence)	MFSD8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951 Tags
Green Green List (high evidence)	MGAT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A 212066 Tags
Green Green List (high evidence)	MGP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KEUTEL SYNDROME 245150 Tags
Green Green List (high evidence)	MICU1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673 Tags
Green Green List (high evidence)	MID1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OPITZ G/BBB SYNDROME, X-LINKED 300000 Tags
Green Green List (high evidence)	MIR17HG	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FEINGOLD SYNDROME 614326 Tags gene-checked
Green Green List (high evidence)	MITF	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TIETZ SYNDROME, OMIM:103500 WAARDENBURG SYNDROME TYPE 2A, OMIM:193510 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 Tags
Green Green List (high evidence)	MKKS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 6 209900 MCKUSICK-KAUFMAN SYNDROME 236700 Tags
Green Green List (high evidence)	MKS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MECKEL SYNDROME TYPE 1 249000 BARDET-BIEDL SYNDROME TYPE 13 209900 Tags
Green Green List (high evidence)	MLC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS 604004 Tags
Green Green List (high evidence)	MLYCD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MALONYL-COA DECARBOXYLASE DEFICIENCY 167676 Tags
Green Green List (high evidence)	MMAA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE CBLA 251100 Tags
Green Green List (high evidence)	MMAB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE CBLB 251110 Tags
Green Green List (high evidence)	MMACHC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400 Tags
Green Green List (high evidence)	MMADHC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410 Tags
Green Green List (high evidence)	MMGT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MMGT1-related developmental disorder Tags gene-checked
Green Green List (high evidence)	MMP13	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METAPHYSEAL ANADYSPLASIA TYPE 1 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111 Tags
Green Green List (high evidence)	MMP21	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MMP21-associated heterotaxy Tags
Green Green List (high evidence)	MN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MN1 C-terminal truncation syndrome Tags
Green Green List (high evidence)	MNX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CURRARINO SYNDROME 176450 Tags
Green Green List (high evidence)	MOCS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOLYBDENUM COFACTOR DEFICIENCY 603707 Tags
Green Green List (high evidence)	MOCS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOLYBDENUM COFACTOR DEFICIENCY 603707 Tags
Green Green List (high evidence)	MOGS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	MORC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MORC2 - axonal neuropathy Tags
Green Green List (high evidence)	MPDU1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	MPI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	MPLKIP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050 Tags
Green Green List (high evidence)	MPV17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810 Tags
Green Green List (high evidence)	MPZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184 Tags
Green Green List (high evidence)	MRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME 11, OMIM:618499 Tags
Green Green List (high evidence)	MRE11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA TELANGIECTASIA-LIKE DISORDER 604391 Tags
Green Green List (high evidence)	MRPS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies Tags
Green Green List (high evidence)	MRPS22	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 611719 Tags
Green Green List (high evidence)	MRPS34	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Leigh Syndrome with Instability of the Small Mitoribosomal Subunit Tags
Green Green List (high evidence)	MSL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MSL2-related developmental disorder (monoallelic) Tags gene-checked
Green Green List (high evidence)	MSL3	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 DD-Gene2Phenotype Expert Review Green Phenotypes MSL3 syndrome Tags
Green Green List (high evidence)	MSX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLEFT LIP +/- CLEFT PALATE 608874 Tags
Green Green List (high evidence)	MSX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550 CRANIOSYNOSTOSIS, TYPE 2 604757 Tags
Green Green List (high evidence)	MT-TP	2 reviews 1 green	MITOCHONDRIAL	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MERRF 545000 Tags gene-checked
Green Green List (high evidence)	MTHFR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250 Tags
Green Green List (high evidence)	MTM1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYOTUBULAR MYOPATHY, X-LINKED 310400 Tags
Green Green List (high evidence)	MTO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702 Tags
Green Green List (high evidence)	MTOR	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Smith-Kingsmore syndrome, OMIM:616638 Tags
Green Green List (high evidence)	MTR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLCOBALAMIN DEFICIENCY TYPE G 250940 Tags
Green Green List (high evidence)	MTRR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270 Tags
Green Green List (high evidence)	MTSS1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MTSS2-associated syndromic intellectual disability Tags new-gene-name
Green Green List (high evidence)	MUT	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE MUT 251000 Tags new-gene-name
Green Green List (high evidence)	MYBPC1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915 MYBPC1-related arthrogryposis and myopathy Tags
Green Green List (high evidence)	MYCN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FEINGOLD SYNDROME TYPE 1 164280 Tags
Green Green List (high evidence)	MYF5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes External Ophthalmoplegia Rib and Vertebral Anomalies Tags
Green Green List (high evidence)	MYH3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 Recessive Spondylocarpotarsal Synostosis Syndrome Tags
Green Green List (high evidence)	MYH9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622 SEBASTIAN SYNDROME 155100 MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100 EPSTEIN SYNDROME 155100 MAY-HEGGLIN ANOMALY 155100 FECHTNER SYNDROME 155100 Tags
Green Green List (high evidence)	MYLK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Tags
Green Green List (high evidence)	MYLPF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYLPF arthrogryposis (monoallelic) MYLPF arthrogryposis (biallelic) Tags new-gene-name
Green Green List (high evidence)	MYO18B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM, OMIM:616549 Tags
Green Green List (high evidence)	MYO5A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ELEJALDE SYNDROME 256710 GRISCELLI SYNDROME TYPE 3 609227 Tags
Green Green List (high evidence)	MYO5B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROVILLUS INCLUSION DISEASE 251850 Tags
Green Green List (high evidence)	MYO7A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes USHER SYNDROME TYPE 1B 276900 DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 600060 Tags
Green Green List (high evidence)	MYOCD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital megabladder Tags
Green Green List (high evidence)	MYPN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Childhood-Onset, Slowly Progressive Nemaline Myopathy Tags
Green Green List (high evidence)	MYRF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome Tags
Green Green List (high evidence)	MYT1L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYT1L syndrome Tags
Green Green List (high evidence)	NAA10	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 DD-Gene2Phenotype Expert Review Green Phenotypes X-linked anophthalmia syndrome/Lenz NONPECIFIC SEVERE ID X-linked anophthalmia syndrome OGDEN SYNDROME 300855 Tags
Green Green List (high evidence)	NAA15	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER Tags
Green Green List (high evidence)	NACC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Infantile Epilepsy, Cataracts, and Profound Developmental Delay Tags
Green Green List (high evidence)	NADSYN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NADSYN1-related Congenital NAD Deficiency Disorder Tags
Green Green List (high evidence)	NAE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration Tags
Green Green List (high evidence)	NAGA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHINDLER DISEASE 609241 KANZAKI DISEASE 609242 Tags
Green Green List (high evidence)	NAGLU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3B 252920 Tags
Green Green List (high evidence)	NAGS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 237310 Tags
Green Green List (high evidence)	NALCN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 616266 SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY Tags
Green Green List (high evidence)	NANS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes infantile-onset severe developmental delay and skeletal dysplasia Tags
Green Green List (high evidence)	NAPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NAPB-related Neurodevelopmental Disorder Tags
Green Green List (high evidence)	NARS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NARS1 Neurodevelopmental Disorder (monoallelic) NARS1 Neurodevelopmental Disorder (biallelic) Tags new-gene-name
Green Green List (high evidence)	NARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NARS2-associated oxidative phosphorylation deficiency Tags
Green Green List (high evidence)	NAXD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodegenerative disorder exacerbated by febrile illnesses Tags
Green Green List (high evidence)	NAXE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Lethal Neurometabolic Disorder of Early Childhood Tags
Green Green List (high evidence)	NBAS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483 Tags
Green Green List (high evidence)	NBEA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NBEA Neurodevelopment disorder with seizures Tags
Green Green List (high evidence)	NBN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIJMEGEN BREAKAGE SYNDROME 251260 Tags
Green Green List (high evidence)	NCAPG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe Neurodevelopmental Syndrome Tags
Green Green List (high evidence)	NCDN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NCDN-associated neurodevelopmental disorder with seizures (monoallelic) NCDN-associated neurodevelopmental disorder with seizures (biallelic) Tags
Green Green List (high evidence)	NDE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LISSENCEPHALY 4 614019 Tags
Green Green List (high evidence)	NDNF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NDNF-related Congenital Hypogonadotrophic Hypogonadism Tags
Green Green List (high evidence)	NDP	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NORRIE DISEASE 310600 Tags
Green Green List (high evidence)	NDUFA1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NDUFA10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME DUP 256000 Tags
Green Green List (high evidence)	NDUFA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244 Tags
Green Green List (high evidence)	NDUFA6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Early Onset Isolated Mitochondrial Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NDUFA8-related developmental disorder Tags
Green Green List (high evidence)	NDUFAF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000 Tags
Green Green List (high evidence)	NDUFAF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NDUFAF8-related Leigh Syndrome Tags gene-checked
Green Green List (high evidence)	NDUFB11	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 DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Tags
Green Green List (high evidence)	NDUFB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246 Tags
Green Green List (high evidence)	NDUFB8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, 252010 Tags
Green Green List (high evidence)	NDUFS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 LEIGH SYNDROME 256000 Tags
Green Green List (high evidence)	NDUFS4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 LEIGH SYNDROME 256000 LEIGH SYNDROME DUP 256000 Tags
Green Green List (high evidence)	NDUFS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NDUFS8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NDUFV1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NDUFV2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Tags
Green Green List (high evidence)	NEB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY 256030 Tags
Green Green List (high evidence)	NECTIN4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 613573 Tags
Green Green List (high evidence)	NEDD4L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly Tags
Green Green List (high evidence)	NEK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520 Tags monogenic-polygenic
Green Green List (high evidence)	NEK8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 615415 NEPHRONOPHTHISIS 9 613824 Tags
Green Green List (high evidence)	NEU1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SIALIDOSIS 256550 Tags
Green Green List (high evidence)	NEXMIF	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 DD-Gene2Phenotype Expert Review Green Phenotypes KIAA2022 300912 Intellectual disability and epilepsy Tags
Green Green List (high evidence)	NF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WATSON SYNDROME 193520 NEUROFIBROMATOSIS TYPE 1 162200 NEUROFIBROMATOSIS-NOONAN SYNDROME 601321 FAMILIAL SPINAL NEUROFIBROMATOSIS 162210 Tags
Green Green List (high evidence)	NFE2L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744 Tags
Green Green List (high evidence)	NFIA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Macrocephaly with intellectual disability Tags
Green Green List (high evidence)	NFIB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual disability with macrocephaly Intellectual Disability and Macrocephaly Tags
Green Green List (high evidence)	NFIX	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MARSHALL-SMITH SYNDROME 602535 SOTOS-LIKE SYNDROME 614753 Tags
Green Green List (high evidence)	NFU1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711 Tags
Green Green List (high evidence)	NGLY1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF DEGLYCOSYLATION 615273 Tags
Green Green List (high evidence)	NHLRC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278 Tags gene-checked
Green Green List (high evidence)	NHP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987 Tags
Green Green List (high evidence)	NHS	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NANCE-HORAN SYNDROME 302350 CATARACT CONGENITAL X-LINKED 302200 Tags
Green Green List (high evidence)	NIPBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE SYNDROME TYPE 1 122470 Tags
Green Green List (high evidence)	NKAP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Marfanoid Habitus and Cognitive Impairment Tags
Green Green List (high evidence)	NKX2-1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 610978 BENIGN HEREDITARY CHOREA 118700 Tags
Green Green List (high evidence)	NKX2-5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900 TETRALOGY OF FALLOT 187500 CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 225250 Tags
Green Green List (high evidence)	NKX3-2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA 613330 Tags
Green Green List (high evidence)	NKX6-2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Progressive Spastic Ataxia and Hypomyelination Tags
Green Green List (high evidence)	NLGN3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTISM SPECTRUM DISORDERS 198890 Tags
Green Green List (high evidence)	NMNAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 608553 Tags
Green Green List (high evidence)	NODAL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HETEROTAXY SYNDROME 207574 Tags
Green Green List (high evidence)	NOG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TARSAL-CARPAL COALITION SYNDROME 186570 MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460 BRACHYDACTYLY TYPE B2 611377 SYMPHALANGISM PROXIMAL SYNDROME 185800 Tags
Green Green List (high evidence)	NONO	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags
Green Green List (high evidence)	NOTCH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION 109730 ADAMS OLIVER SYNDROME Tags
Green Green List (high evidence)	NOTCH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HAJDU-CHENEY SYNDROME 102500 Tags
Green Green List (high evidence)	NOVA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual disability with ataxia/spasticity Tags
Green Green List (high evidence)	NPC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C1 257220 Tags
Green Green List (high evidence)	NPC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C2 607625 Tags
Green Green List (high evidence)	NPHP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME TYPE 4 609583 NEPHRONOPHTHISIS TYPE 1 256100 SENIOR-LOKEN SYNDROME TYPE 1 266900 Tags
Green Green List (high evidence)	NPHP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHRONOPHTHISIS TYPE 3 604387 RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540 MECKEL SYNDROME TYPE 7 267010 Tags
Green Green List (high evidence)	NPHP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHRONOPHTHISIS TYPE 4 606966 Tags
Green Green List (high evidence)	NPHS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHROTIC SYNDROME TYPE 1 256300 Tags
Green Green List (high evidence)	NPHS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHROTIC SYNDROME, TYPE 2 600995 Tags
Green Green List (high evidence)	NPM1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Dyskeratosis Congenita Tags
Green Green List (high evidence)	NPR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875 Tags
Green Green List (high evidence)	NPR3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Enhanced Growth and Connective Tissue Abnormalities Tags
Green Green List (high evidence)	NR2F1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME 615722 Tags
Green Green List (high evidence)	NR2F2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL HEART DEFECTS and XX sex reversal Tags
Green Green List (high evidence)	NR4A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NR4A2-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	NRAS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME TYPE 6 613224 Tags
Green Green List (high evidence)	NRCAM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity Tags
Green Green List (high evidence)	NRROS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification Tags
Green Green List (high evidence)	NRXN1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PITT HOPKINS 2 AUTISM 209850 Tags
Green Green List (high evidence)	NRXN2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTISM 209850 Tags gene-checked
Green Green List (high evidence)	NSD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WEAVER SYNDROME 277590 BECKWITH-WIEDEMANN SYNDROME 130650 SOTOS SYNDROME 117550 Tags
Green Green List (high evidence)	NSD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219 Tags
Green Green List (high evidence)	NSDHL	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 DD-Gene2Phenotype Expert Review Green Phenotypes CK SYNDROME 300831 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS 308050 Tags
Green Green List (high evidence)	NSRP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly Tags
Green Green List (high evidence)	NSUN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 611091 Tags
Green Green List (high evidence)	NT5C3A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY 266120 Tags
Green Green List (high evidence)	NTNG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental delay, hypotonia, and autistic features Tags gene-checked
Green Green List (high evidence)	NTRK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800 Tags
Green Green List (high evidence)	NTRK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epilepsy and intellectual disability Tags
Green Green List (high evidence)	NUBPL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NUDT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NUDT2-related Developmental Disorder Tags
Green Green List (high evidence)	NUP133	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALLOWAY-MOWAT SYNDROME 8, 618349 Tags
Green Green List (high evidence)	NUP214	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Acute Febrile Encephalopathy 618426 Tags
Green Green List (high evidence)	NUP54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NUP54-related early-onset dystonia with striatal lesions Tags
Green Green List (high evidence)	NUP62	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE STRIATONIGRAL DEGENERATION 271930 Tags
Green Green List (high evidence)	NUS1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epilepsy and intellectual disability Tags
Green Green List (high evidence)	NYX	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 310500 Tags
Green Green List (high evidence)	OBSL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-M SYNDROME 2 612921 Tags
Green Green List (high evidence)	OCLN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria Tags
Green Green List (high evidence)	OCRL	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DENT DISEASE TYPE 2 300555 LOWE OCULOCEREBRORENAL SYNDROME 309000 Tags
Green Green List (high evidence)	ODC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ODC1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	OFD1	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 DD-Gene2Phenotype Expert Review Green Phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 300209 ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 311200 JOUBERT SYNDROME TYPE 10 300804 Tags
Green Green List (high evidence)	OGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OGDH-related neurodevelopmental disorder Tags
Green Green List (high evidence)	OGDHL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia Tags
Green Green List (high evidence)	OGT	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 DD-Gene2Phenotype Expert Review Green Phenotypes OGT-related developmental disorder (hemizygous) OGT-related developmental disorder (X-linked dominant) Tags
Green Green List (high evidence)	ONECUT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ONECUT1-associated neonatal diabetes Tags gene-checked
Green Green List (high evidence)	OPHN1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486 Tags
Green Green List (high evidence)	ORC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 1 224690 Tags
Green Green List (high evidence)	ORC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 2 613800 Tags
Green Green List (high evidence)	ORC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 3 613803 Tags
Green Green List (high evidence)	OSGEP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Nephrotic syndrome with primary microcephaly Tags
Green Green List (high evidence)	OTC	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250 Tags
Green Green List (high evidence)	OTOGL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MODERATE SENSORINEURAL HEARING LOSS 614944 Tags
Green Green List (high evidence)	OTUD5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OTUD5-associated neurodevelopmental disorder Tags
Green Green List (high evidence)	OTUD6B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features Tags
Green Green List (high evidence)	OTULIN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Otulin-related auto inflammatory syndrome Tags
Green Green List (high evidence)	OTX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 5 610125 Tags
Green Green List (high evidence)	OXCT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY 245050 Tags
Green Green List (high evidence)	OXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction Tags
Green Green List (high evidence)	P3H1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOGENESIS IMPERFECTA, TYPE VIII 610915 Tags
Green Green List (high evidence)	P4HB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COLE-CARPENTER SYNDROME 112240 Tags
Green Green List (high evidence)	P4HTM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493 Tags
Green Green List (high evidence)	PACS1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PACS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Unspecified Neurodevelopmental Disorder Tags
Green Green List (high evidence)	PAFAH1B1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUBCORTICAL BAND HETEROTOPIA 607432 LISSENCEPHALY TYPE 1 607432 Tags
Green Green List (high evidence)	PAH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600 PHENYLKETONURIA 261600 Tags
Green Green List (high evidence)	PAK1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental Disorder Tags
Green Green List (high evidence)	PAK3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AGENESIS OF THE CORPUS CALLOSUM MENTAL RETARDATION X-LINKED TYPE 30 300558 Tags
Green Green List (high evidence)	PALB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832 Tags
Green Green List (high evidence)	PAN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PAN2-related neurodevelopmental disorder with multiple congenital anomalies Tags gene-checked
Green Green List (high evidence)	PAPSS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE 612847 Tags
Green Green List (high evidence)	PARN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 6 Tags
Green Green List (high evidence)	PAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OTOFACIOCERVICAL SYNDROME, OMIM:166780 Tags
Green Green List (high evidence)	PAX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL-COLOBOMA SYNDROME 120330 Tags
Green Green List (high evidence)	PAX3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WAARDENBURG SYNDROME, TYPE 1 193500 CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880 Tags
Green Green List (high evidence)	PAX6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COLOBOMA OF OPTIC NERVE 120430 ANIRIDIA 106210 FOVEAL HYPOPLASIA 136520 BILATERAL OPTIC NERVE HYPOPLASIA 165550 KERATITIS HEREDITARY 148190 PETERS ANOMALY 604229 ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700 Tags
Green Green List (high evidence)	PAX8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700 Tags
Green Green List (high evidence)	PAX9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOOTH AGENESIS, SELECTIVE, 3 604625 Tags
Green Green List (high evidence)	PBX1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Literature Phenotypes PBX1-related developmental disorder (monoallelic) Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Tags
Green Green List (high evidence)	PC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYRUVATE CARBOXYLASE DEFICIENCY 266150 Tags
Green Green List (high evidence)	PCBD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070 Tags
Green Green List (high evidence)	PCCA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROPIONIC ACIDEMIA 606054 Tags
Green Green List (high evidence)	PCCB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROPIONIC ACIDEMIA 606054 Tags
Green Green List (high evidence)	PCDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280 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 DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 Tags
Green Green List (high evidence)	PCDHGC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures Tags
Green Green List (high evidence)	PCGF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DUSBILITY Craniofacial Neurological Cardiovascular and Skeletal Features Tags
Green Green List (high evidence)	PCNT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 Tags
Green Green List (high evidence)	PCYT1A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 608940 Tags
Green Green List (high evidence)	PCYT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033 Tags
Green Green List (high evidence)	PDCD10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 603285 Tags
Green Green List (high evidence)	PDE10A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Childhood-Onset Chorea with Bilateral Striatal Lesions Tags
Green Green List (high evidence)	PDE4D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACRODYSOSTOSIS 101800 Tags
Green Green List (high evidence)	PDE6G	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA 57 613582 Tags
Green Green List (high evidence)	PDE6H	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINAL CONE DYSTROPHY 3 PDE6H 610024 ACHROMATOPSIA Tags
Green Green List (high evidence)	PDGFRB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812 FAMILIAL INFANTILE MYOFIBROMATOSIS 228550 Tags
Green Green List (high evidence)	PDHA1	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 DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILTIY 312170 X-LINKED LEIGH SYNDROME 312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170 Tags
Green Green List (high evidence)	PDHX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349 Tags
Green Green List (high evidence)	PDSS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651 Tags
Green Green List (high evidence)	PDSS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652 Tags
Green Green List (high evidence)	PEPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROLIDASE DEFICIENCY 170100 Tags
Green Green List (high evidence)	PET100	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	PEX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136 ADRENOLEUKODYSTROPHY NEONATAL 202370 INFANTILE REFSUM DISEASE 266510 Tags
Green Green List (high evidence)	PEX10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 ADRENOLEUKODYSTROPHY NEONATAL 202370 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859 Tags
Green Green List (high evidence)	PEX11B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Peroxisome biogenesis disorder 14B Tags
Green Green List (high evidence)	PEX12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758 Tags
Green Green List (high evidence)	PEX13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789 ADRENOLEUKODYSTROPHY NEONATAL 202370 Tags
Green Green List (high evidence)	PEX14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791 Tags
Green Green List (high evidence)	PEX16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360 Tags
Green Green List (high evidence)	PEX19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279 Tags
Green Green List (high evidence)	PEX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 170993 INFANTILE REFSUM DISEASE 266510 Tags
Green Green List (high evidence)	PEX26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 608666 ADRENOLEUKODYSTROPHY NEONATAL 202370 INFANTILE REFSUM DISEASE 266510 Tags
Green Green List (high evidence)	PEX3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 603164 Tags
Green Green List (high evidence)	PEX5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 ADRENOLEUKODYSTROPHY NEONATAL 202370 INFANTILE REFSUM DISEASE 266510 Tags
Green Green List (high evidence)	PEX6	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Heimler syndrome 2, OMIM:616617 Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green Green List (high evidence)	PEX7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes REFSUM DISEASE 266500 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757 Tags
Green Green List (high evidence)	PGAP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual disability, encephalopathy, impaired GPI-anchor maturation Tags
Green Green List (high evidence)	PGAP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PGAP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716 Tags
Green Green List (high evidence)	PGK1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653 Tags
Green Green List (high evidence)	PGM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921 Tags
Green Green List (high evidence)	PGM2L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PGM2L1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	PGM3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IMMUNODEFICIENCY 23 615816 Tags
Green Green List (high evidence)	PHACTR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHACTR1-associated neurodevelopment disorder Tags
Green Green List (high evidence)	PHF21A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POTOCKI-SHAFFER SYNDROME 601224 Tags
Green Green List (high evidence)	PHF6	3 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 DD-Gene2Phenotype Expert Review Green Phenotypes BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900 Tags
Green Green List (high evidence)	PHF8	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263 Tags
Green Green List (high evidence)	PHGDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815 NEU-LAXOVA SYNDROME 256520 Tags
Green Green List (high evidence)	PHIP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental delay, ID, obesity and dysmorphic features Tags
Green Green List (high evidence)	PHOX2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880 NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013 Tags
Green Green List (high evidence)	PI4KA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags
Green Green List (high evidence)	PIBF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 33, OMIM:617767 Tags
Green Green List (high evidence)	PIDD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PIDD1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	PIEZO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital lymphatic dysplasia with hydrops and/or lymphoedema Tags
Green Green List (high evidence)	PIEZO2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, DISTAL, TYPE 3 114300 Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception Tags
Green Green List (high evidence)	PIGA	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868 Tags Skewed X-inactivation
Green Green List (high evidence)	PIGB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality Tags
Green Green List (high evidence)	PIGG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability with Seizures and Hypotonia Tags
Green Green List (high evidence)	PIGH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010 Tags
Green Green List (high evidence)	PIGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PIGK-associated Neurodevelopmental Syndrome Tags
Green Green List (high evidence)	PIGL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZUNICH NEUROECTODERMAL SYNDROME 280000 Tags
Green Green List (high evidence)	PIGN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 614080 Tags
Green Green List (high evidence)	PIGO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749 Tags
Green Green List (high evidence)	PIGS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy Tags
Green Green List (high evidence)	PIGT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398 Tags
Green Green List (high evidence)	PIGU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability, Central Nervous System anomalies and Scoliosis Tags
Green Green List (high evidence)	PIGV	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300 Tags
Green Green List (high evidence)	PIGY	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Glycosylphosphatidylinositol deficiency Tags
Green Green List (high evidence)	PIH1D3	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Tags new-gene-name
Green Green List (high evidence)	PIK3CA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEMIMEGALENCEPHALY PIK3CA CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 Tags mosaicism
Green Green List (high evidence)	PIK3R1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHORT SYNDROME 269880 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214 Tags
Green Green List (high evidence)	PIK3R2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387 Tags
Green Green List (high evidence)	PITX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL CLUBFOOT 119800 HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS Tags
Green Green List (high evidence)	PITX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AXENFELD-RIEGER SYNDROME TYPE 1 180500 PETERS ANOMALY 604229 RING DERMOID OF CORNEA 180550 IRIDOGONIODYSGENESIS TYPE 2 137600 Tags
Green Green List (high evidence)	PITX3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT AUTOSOMAL DOMINANT 604219 CATARACT POSTERIOR POLAR TYPE 4 610623 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 Tags
Green Green List (high evidence)	PKD1L1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Laterality defects Tags
Green Green List (high evidence)	PKHD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200 Tags
Green Green List (high evidence)	PLA2G6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 Tags
Green Green List (high evidence)	PLAA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Lethal Infantile Epileptic Encephalopathy Tags
Green Green List (high evidence)	PLCB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 613722 Tags
Green Green List (high evidence)	PLCB4	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AURICULOCONDYLAR SYNDROME 602483 Tags
Green Green List (high evidence)	PLCE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHROTIC SYNDROME, TYPE 3 610725 Tags
Green Green List (high evidence)	PLEC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA 612138 Tags
Green Green List (high evidence)	PLK4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171 Tags
Green Green List (high evidence)	PLOD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400 Tags
Green Green List (high evidence)	PLOD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRUCK SYNDROME TYPE 2 609220 Tags
Green Green List (high evidence)	PLP1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920 LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080 Tags
Green Green List (high evidence)	PLPBP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Vitamin-B6-Dependent Epilepsy Tags
Green Green List (high evidence)	PLXND1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOEBIUS SYNDROME TRUNCUS ARTERIOSIS Tags
Green Green List (high evidence)	PMM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	PMPCB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodegeneration in Early Childhood Tags
Green Green List (high evidence)	PMS2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MISMATCH REPAIR CANCER SYNDROME 276300 Tags
Green Green List (high evidence)	PNKP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402 ATAXIA-OCULOMOTOR APRAXIA 4 616267 Tags
Green Green List (high evidence)	PNPLA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL ICHTHYOSIS Tags
Green Green List (high evidence)	PNPLA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY 610717 Tags
Green Green List (high evidence)	PNPLA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PNPLA6-related Disorder Tags
Green Green List (high evidence)	PNPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090 Tags
Green Green List (high evidence)	PNPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEARING LOSS RESPIRATORY CHAIN DISORDER 614932 Tags
Green Green List (high evidence)	POC1A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMORDIAL DWARFISM 615272 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813 Tags
Green Green List (high evidence)	POC1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY Tags
Green Green List (high evidence)	POGZ	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	POLA1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VAN ESCH-O'DRISCOLL SYNDROME 301030 Tags
Green Green List (high evidence)	POLD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM Tags
Green Green List (high evidence)	POLE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IMAGe Syndrome with variable immunodeficiency Tags
Green Green List (high evidence)	POLG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700 Tags
Green Green List (high evidence)	POLR1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE Tags
Green Green List (high evidence)	POLR1C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TREACHER COLLINS SYNDROME TYPE 3 248390 Tags
Green Green List (high evidence)	POLR1D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TREACHER COLLINS SYNDROME TYPE 2 613717 Tags
Green Green List (high evidence)	POLR2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags
Green Green List (high evidence)	POLR3A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal Recessive Wiedemann Rautenstrauch Syndrome LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 Tags
Green Green List (high evidence)	POLR3B	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal recessive mental retardation Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism POLR3B-related neurodevelopmental disorder Tags
Green Green List (high evidence)	POMGNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 613157 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 253280 Tags
Green Green List (high evidence)	POMGNT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WALKER WARBERG SYNDROME 614830 Tags
Green Green List (high evidence)	POMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 Tags
Green Green List (high evidence)	POMT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 613155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 236670 Tags
Green Green List (high evidence)	POMT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 613150 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156 Tags
Green Green List (high evidence)	PORCN	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 DD-Gene2Phenotype Expert Review Green Phenotypes FOCAL DERMAL HYPOPLASIA 305600 Tags
Green Green List (high evidence)	POU1F1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038 Tags
Green Green List (high evidence)	POU3F3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY 616579 Tags
Green Green List (high evidence)	POU4F1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352 Tags
Green Green List (high evidence)	PPA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Sudden arrhythmic cardiac death after infectious or alcohol trigger Tags
Green Green List (high evidence)	PPFIBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PPFIBP1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	PPIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tags
Green Green List (high evidence)	PPM1D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PPM1D syndrome Tags
Green Green List (high evidence)	PPP1CB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair Tags
Green Green List (high evidence)	PPP1R12A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations Tags
Green Green List (high evidence)	PPP1R13L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PPP1R13L-related dilated cardiomyopathy Tags
Green Green List (high evidence)	PPP1R21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PPP1R21-related neurodevelopmental disorder Tags gene-checked
Green Green List (high evidence)	PPP2CA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders Tags
Green Green List (high evidence)	PPP2R1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PPP2R5D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PPP3CA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe Neurodevelopmental Disease with Seizures Tags
Green Green List (high evidence)	PPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 256730 Tags
Green Green List (high evidence)	PQBP1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENPENNING S(YNDROME 1 309500 Tags
Green Green List (high evidence)	PRDM12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 Tags
Green Green List (high evidence)	PRDM13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRDM13-related olivopentocerebellar hypoplasia syndrome Tags
Green Green List (high evidence)	PRDX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRDX3-associated cerebellar ataxia Tags
Green Green List (high evidence)	PREPL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOTONIA-CYSTINURIA SYNDROME 606407 Tags
Green Green List (high evidence)	PRIM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIM1-related Primordial Dwarfism Tags
Green Green List (high evidence)	PRKACA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRKACA-related Multiple Congenital Malformation Syndrome Tags
Green Green List (high evidence)	PRKACB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRKACB-related Multiple Congenital Malformation Syndrome Tags
Green Green List (high evidence)	PRKAR1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACRODYSOSTOSIS 101800 Tags
Green Green List (high evidence)	PRKAR1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRKAR1B-related developmental disorder Tags
Green Green List (high evidence)	PRKD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic congenital heart defects Tags
Green Green List (high evidence)	PRKG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636 Tags
Green Green List (high evidence)	PRMT7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Pseudohypoparathyroidism-like disorder Tags
Green Green List (high evidence)	PROP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600 Tags
Green Green List (high evidence)	PRPF8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRPF8-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	PRPS1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTS SYNDROME 301835 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661 DEAFNESS X-LINKED TYPE 1 304500 CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070 Tags
Green Green List (high evidence)	PRR12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual disability and iris abnormalities Tags
Green Green List (high evidence)	PRRT2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066 Tags
Green Green List (high evidence)	PRSS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500 Tags
Green Green List (high evidence)	PRSS56	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED TYPE 6 613517 Tags
Green Green List (high evidence)	PRUNE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PEHO Like condition Tags
Green Green List (high evidence)	PSAP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATYPICAL KRABBE DISEASE 611722 Tags
Green Green List (high evidence)	PSAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992 NEU-LAXOVA SYNDROME 256520 Tags
Green Green List (high evidence)	PSMB8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NAKAJO SYNDROME 256040 Tags
Green Green List (high evidence)	PSMC5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PSMC5-related developmental disorder (monoallelic) Tags gene-checked
Green Green List (high evidence)	PSPH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023 NEU-LAXOVA 256520 Tags
Green Green List (high evidence)	PTCH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BASAL CELL NEVUS SYNDROME 109400 HOLOPROSENCEPHALY-7 610828 Tags
Green Green List (high evidence)	PTCHD1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTISM/ID 300830 Tags
Green Green List (high evidence)	PTDSS1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050 Tags
Green Green List (high evidence)	PTEN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BANNAYAN-ZONANA SYNDROME 153480 COWDEN DISEASE 158350 MACROCEPHALY/AUTISM SYNDROME 605309 VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950 PROTEUS SYNDROME 176920 LHERMITTE-DUCLOS DISEASE 158350 Tags mosaicism
Green Green List (high evidence)	PTF1A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069 PANCREATIC AGENESIS Tags
Green Green List (high evidence)	PTH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200 Tags
Green Green List (high evidence)	PTH1R	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400 EIKEN SKELETAL DYSPLASIA 600002 PRIMARY FAILURE OF TOOTH ERUPTION 125350 CHONDRODYSPLASIA BLOMSTRAND TYPE 215045 Tags
Green Green List (high evidence)	PTHLH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY, TYPE E2 613382 CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS Tags
Green Green List (high evidence)	PTPN11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEOPARD SYNDROME TYPE 1 151100 NOONAN SYNDROME 1 163950 Tags
Green Green List (high evidence)	PTPN14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHOANAL ATRESIA AND LYMPHEDEMA 613611 Tags
Green Green List (high evidence)	PTRH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263 Tags
Green Green List (high evidence)	PTS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640 Tags
Green Green List (high evidence)	PUF60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PUF60 syndrome Tags
Green Green List (high evidence)	PURA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462 Tags
Green Green List (high evidence)	PUS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae Tags
Green Green List (high evidence)	PUS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior Tags
Green Green List (high evidence)	PXDN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA Tags
Green Green List (high evidence)	PYCR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940 Tags
Green Green List (high evidence)	PYCR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME Tags
Green Green List (high evidence)	PYGL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE TYPE VI 232700 Tags
Green Green List (high evidence)	PYROXD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Tags
Green Green List (high evidence)	QARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760 Tags new-gene-name
Green Green List (high evidence)	QDPR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BH4-DEFICIENT HYPERPHENYLALANINEMIA C 261630 Tags
Green Green List (high evidence)	QRICH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes QRICH1 syndrome Tags
Green Green List (high evidence)	RAB11A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epilepsy and intellectual disability Tags gene-checked
Green Green List (high evidence)	RAB11B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	RAB14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RAB14-related developmental disorder (monoallelic) Tags gene-checked
Green Green List (high evidence)	RAB18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WARBURG MICRO SYNDROME TYPE 3 614222 Tags
Green Green List (high evidence)	RAB23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000 Tags
Green Green List (high evidence)	RAB39B	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271 Tags
Green Green List (high evidence)	RAB3GAP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WARBURG MICRO SYNDROME TYPE 1 600118 Tags
Green Green List (high evidence)	RAB3GAP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MARTSOLF SYNDROME 212720 Tags
Green Green List (high evidence)	RAC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental Disorders with Diverse Phenotypes Tags
Green Green List (high evidence)	RAC3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopment disorder Tags
Green Green List (high evidence)	RAD21	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COHESINOPATHY 614701 Tags
Green Green List (high evidence)	RAD51C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP 0 613390 Tags
Green Green List (high evidence)	RAF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME 5 611553 Tags
Green Green List (high evidence)	RAI1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMITH-MAGENIS SYNDROME 182290 Tags
Green Green List (high evidence)	RALA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RALA-related Neurodevelopmental Syndrome Tags
Green Green List (high evidence)	RALGAPA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RALGAPA1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	RAPSN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931 FETAL AKINESIA DEFORMATION SEQUENCE 208150 Tags
Green Green List (high evidence)	RARB	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA Tags
Green Green List (high evidence)	RARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RARS1 related hypomyelinating leukodystrophy Tags new-gene-name
Green Green List (high evidence)	RARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922 Tags
Green Green List (high evidence)	RAX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED TYPE 3 611038 Tags
Green Green List (high evidence)	RBBP8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RBBP8-related microcephaly and intellectual disability, OMIM:251255 Tags
Green Green List (high evidence)	RBM10	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TARP SYNDROME 311900 Tags
Green Green List (high evidence)	RBM8A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000 Tags
Green Green List (high evidence)	RBPJ	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADAMS OLIVER SYNDROME Tags
Green Green List (high evidence)	RECQL4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RAPADILINO SYNDROME 266280 BALLER-GEROLD SYNDROME 218600 ROTHMUND-THOMSON SYNDROME 268400 Tags
Green Green List (high evidence)	RELN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LISSENCEPHALY 2 319306 Tags
Green Green List (high evidence)	RERE	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Phenocopy of Proximal 1p36 Deletions Tags
Green Green List (high evidence)	REST	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes REST-related gingival fibromatosis and sensorineural hearing loss Tags
Green Green List (high evidence)	RET	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL AGENESIS 191830 MULTIPLE ENDOCRINE NEOPLASIA IIB 162300 Tags
Green Green List (high evidence)	RETREG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115 Tags
Green Green List (high evidence)	RFT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N 612015 Tags
Green Green List (high evidence)	RFX6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MARTINEZ-FRIAS SYNDROME 601346 Tags
Green Green List (high evidence)	RHOBTB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental and Epileptic Encephalopathy Tags
Green Green List (high evidence)	RIMS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease Tags
Green Green List (high evidence)	RIN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS Tags
Green Green List (high evidence)	RINT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities Tags
Green Green List (high evidence)	RIPK4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650 Tags
Green Green List (high evidence)	RIT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME 8 615355 Tags
Green Green List (high evidence)	RLIM	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	RMND1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT 614922 Tags
Green Green List (high evidence)	RMRP	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARTILAGE-HAIR HYPOPLASIA 250250 Tags
Green Green List (high evidence)	RNASEH2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 4 610333 Tags
Green Green List (high evidence)	RNASEH2B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 2 610181 Tags
Green Green List (high evidence)	RNASEH2C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 3 610329 Tags
Green Green List (high evidence)	RNASET2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY 612951 Tags
Green Green List (high evidence)	RNF13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive Tags
Green Green List (high evidence)	RNPC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RNPC3-associated growth hormone deficiency and short stature, OMIM:618160 Tags gene-checked
Green Green List (high evidence)	RNU4ATAC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710 Tags
Green Green List (high evidence)	ROBO3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS 607313 Tags
Green Green List (high evidence)	ROBO4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Bicuspid Aortic Valve and Aortic Aneurysm 618496 Tags
Green Green List (high evidence)	ROGDI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KOHLSCHTTER-TNZ SYNDROME 226750 Tags
Green Green List (high evidence)	ROR2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Brachydactyly, type B1, OMIM:113000 (AD) Robinow syndrome, autosomal recessive, OMIM:268310 (AR) Tags
Green Green List (high evidence)	RORA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	RORB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RORB-epilepsy and neurodevelopmental disorder, OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699 Tags
Green Green List (high evidence)	RPE65	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 608553 Tags
Green Green List (high evidence)	RPGRIP1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 6 613826 CONE-ROD DYSTROPHY 13 608194 Tags
Green Green List (high evidence)	RPGRIP1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MECKEL SYNDROME TYPE 5 611561 JOUBERT SYNDROME TYPE 7 611560 COACH SYNDROME 216360 Tags
Green Green List (high evidence)	RPL10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998 Tags
Green Green List (high evidence)	RPL11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Diamond-Blackfan anemia with cleft palate and abnormal thumbs Tags
Green Green List (high evidence)	RPL26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 Tags
Green Green List (high evidence)	RPS19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176 Tags
Green Green List (high evidence)	RPS23	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Microcephaly, hearing loss, and dysmorphic features Tags
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309 Tags
Green Green List (high evidence)	RPS6KA3	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 DD-Gene2Phenotype Expert Review Green Phenotypes Coffin-Lowry Syndrome 2 RPS6KA3 XLD Coffin-Lowry Syndrome 2 RPS6KA3 XLR Tags
Green Green List (high evidence)	RRAS	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATYPICAL NOONAN SYNDROME Tags gene-checked
Green Green List (high evidence)	RRAS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Noonan syndrome Tags
Green Green List (high evidence)	RRM2B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mitochondrial depletion syndrome Tags
Green Green List (high evidence)	RSPH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS Tags
Green Green List (high evidence)	RSPH3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS Tags
Green Green List (high evidence)	RSPO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Tetra-amelia with lung agenesis Tags
Green Green List (high evidence)	RSPO4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANONYCHIA CONGENITA 206800 Tags
Green Green List (high evidence)	RSPRY1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA Tags
Green Green List (high evidence)	RSRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 Tags
Green Green List (high evidence)	RTEL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190 Tags
Green Green List (high evidence)	RTN4IP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EARLY-ONSET RECESSIVE OPTIC NEUROPATHY Tags
Green Green List (high evidence)	RTTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BILATERAL DIFFUSE POLYMICROGYRIA 614833 Tags
Green Green List (high evidence)	RUNX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLEIDOCRANIAL DYSPLASIA 119600 Tags
Green Green List (high evidence)	RYR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320 Tags
Green Green List (high evidence)	SACS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550 Tags
Green Green List (high evidence)	SALL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOWNES-BROCKS SYNDROME 107480 Tags
Green Green List (high evidence)	SALL4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACRO-RENAL-OCULAR SYNDROME 607323 DUANE-RADIAL RAY SYNDROME 607323 Tags
Green Green List (high evidence)	SAMD9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy Tags
Green Green List (high evidence)	SAMHD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 239588 Tags
Green Green List (high evidence)	SARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 Autosomal dominant SARS1-related neurodevelopmental disorder Tags new-gene-name
Green Green List (high evidence)	SARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845 Tags
Green Green List (high evidence)	SATB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SATB1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	SATB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSPECIFIC SEVERE ID CLEFT PALATE ISOLATED 119540 SYNDROMAL PIERRE ROBIN SEQUENCE Tags
Green Green List (high evidence)	SBDS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHWACHMAN-DIAMOND SYNDROME 607444 Tags
Green Green List (high evidence)	SC5D	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LATHOSTEROLOSIS 607330 Tags
Green Green List (high evidence)	SCAF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCAF4-related Neurodevelopmental Disorder Tags
Green Green List (high evidence)	SCARF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VAN DEN ENDE-GUPTA SYNDROME 600920 Tags
Green Green List (high evidence)	SCN11A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL INABILITY TO EXPERIENCE PAIN EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552 Tags
Green Green List (high evidence)	SCN1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCN1A-RELATED SEIZURE DISORDERS 607208 Tags
Green Green List (high evidence)	SCN1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233 BRUGADA SYNDROME 5 612838 Tags
Green Green List (high evidence)	SCN2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSPECIFIC SEVERE ID BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968 INFANTILE EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	SCN3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Focal epilepsy Tags
Green Green List (high evidence)	SCN4A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOKALEMIC PERIODIC PARALYSIS 613345 PARAMYOTONIA CONGENITA OF VON EULENBURG 168300 HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500 Tags
Green Green List (high evidence)	SCN8A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558 Tags
Green Green List (high evidence)	SCO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	SCO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377 Tags
Green Green List (high evidence)	SCUBE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCUBE3-related developmental disorder Tags
Green Green List (high evidence)	SCYL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia Tags
Green Green List (high evidence)	SDCCAG8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SENIOR-LOKEN SYNDROME 7 613615 Tags
Green Green List (high evidence)	SDHA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000 Tags
Green Green List (high evidence)	SDHAF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX II DEFICIENCY 252011 Tags
Green Green List (high evidence)	SEC23B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100 Tags
Green Green List (high evidence)	SEC24D	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC OSTEOGENESIS IMPERFECTA Tags
Green Green List (high evidence)	SECISBP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THYROID HORMONE METABOLISM, ABNORMAL 609698 Tags
Green Green List (high evidence)	SELENOI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPT1-related complex progressive hereditary spastic paraplegia Tags
Green Green List (high evidence)	SELENON	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SELENON-related myopathy Tags
Green Green List (high evidence)	SEMA3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEMA3A-related skeletal dysplasia Tags
Green Green List (high evidence)	SEMA6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEMA6B-related neurodevelopmental disorder Tags de novo
Green Green List (high evidence)	SEPSECS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2D Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Green Green List (high evidence)	SET	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SET syndrome Tags
Green Green List (high evidence)	SETBP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150 Tags
Green Green List (high evidence)	SETD1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	SETD1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SETD1B associated intellectual disability, epilepsy and autism Tags
Green Green List (high evidence)	SETD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SETD2-associated Overgrowth Syndrome Tags
Green Green List (high evidence)	SETD5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761 Tags
Green Green List (high evidence)	SF3B4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROFACIAL DYSOSTOSIS 1, NAGER TYPE 154400 Tags
Green Green List (high evidence)	SGSH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3A 252900 Tags
Green Green List (high evidence)	SH3PXD2B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRANK-TER HAAR SYNDROME 249420 Tags
Green Green List (high evidence)	SHANK1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTISM 209850 Tags gene-checked
Green Green List (high evidence)	SHANK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUSCEPTIBILITY TO AUTISM TYPE 17 613436 Tags
Green Green List (high evidence)	SHANK3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHELAN-MCDERMID SYNDROME 606232 Tags
Green Green List (high evidence)	SHH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250 HOLOPROSENCEPHALY TYPE 3 236100 Tags
Green Green List (high evidence)	SHMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHMT2-related neurodevelopmental syndrome Tags
Green Green List (high evidence)	SHOC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 607721 Tags
Green Green List (high evidence)	SHOX	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300 LANGER MESOMELIC DYSPLASIA 249700 Tags Pseudoautosomal region 1
Green Green List (high evidence)	SHROOM3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURAL TUBE DEFECT Tags gene-checked
Green Green List (high evidence)	SIAH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SIAH1-associated neurodevelopmental disorder Tags
Green Green List (high evidence)	SIK1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEONATAL EPILEPSY SPECTRUM Tags
Green Green List (high evidence)	SIL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MARINESCO-SJOEGREN SYNDROME 248800 Tags
Green Green List (high evidence)	SIM1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe obesity with neurobehavioral features Tags gene-checked multifactorial
Green Green List (high evidence)	SIN3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags
Green Green List (high evidence)	SIX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389 Non-syndromic craniosynostosis Tags
Green Green List (high evidence)	SIX3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOLOPROSENCEPHALY 609637 Tags
Green Green List (high evidence)	SIX5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRANCHIOOTORENAL SYNDROME TYPE 2 610896 Tags
Green Green List (high evidence)	SKI	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 Tags
Green Green List (high evidence)	SKIV2L	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRICHOHEPATOENTERIC SYNDROME 2 615602 Tags new-gene-name
Green Green List (high evidence)	SLC10A7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Chondrodysplasia with multiple dislocations and amelogenesis imperfecta Tags
Green Green List (high evidence)	SLC12A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FEBRILE SEIZURES Tags
Green Green List (high evidence)	SLC12A6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000 Tags
Green Green List (high evidence)	SLC13A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE Tags
Green Green List (high evidence)	SLC16A2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523 Tags
Green Green List (high evidence)	SLC17A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE SIALIC ACID STORAGE DISORDER 269920 SALLA DISEASE 604369 Tags
Green Green List (high evidence)	SLC19A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 607483 Tags
Green Green List (high evidence)	SLC1A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly Tags
Green Green List (high evidence)	SLC22A5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140 Tags
Green Green List (high evidence)	SLC24A4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMELOGENESIS IMPERFECTA. Tags
Green Green List (high evidence)	SLC25A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SLC25A1-related Neurometabolic Disorder Tags
Green Green List (high evidence)	SLC25A15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970 Tags
Green Green List (high evidence)	SLC25A19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMISH LETHAL MICROCEPHALY 216535 Tags
Green Green List (high evidence)	SLC25A20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138 Tags
Green Green List (high evidence)	SLC25A22	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 319213 Tags
Green Green List (high evidence)	SLC25A24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Gorlin-Chaudhry-Moss syndrome (GCMS) Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction Tags
Green Green List (high evidence)	SLC25A26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY Tags
Green Green List (high evidence)	SLC25A38	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950 Tags
Green Green List (high evidence)	SLC25A4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number Fontaine progeroid syndrome Tags
Green Green List (high evidence)	SLC25A42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 Tags
Green Green List (high evidence)	SLC26A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACHONDROGENESIS TYPE 1B 600972 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900 ATELOSTEOGENESIS TYPE 2 256050 DIASTROPHIC DYSPLASIA 222600 Tags
Green Green List (high evidence)	SLC27A4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ICHTHYOSIS PREMATURITY SYNDROME 608649 Tags
Green Green List (high evidence)	SLC2A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 612126 GLUT1 DEFICIENCY SYNDROME TYPE 1 606777 Tags
Green Green List (high evidence)	SLC2A10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTERIAL TORTUOSITY SYNDROME 208050 Tags
Green Green List (high evidence)	SLC2A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI-BICKEL SYNDROME 227810 Tags
Green Green List (high evidence)	SLC31A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	SLC32A1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental and epileptic encephalopathy 114, OMIM:620774 Tags
Green Green List (high evidence)	SLC33A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN Tags
Green Green List (high evidence)	SLC35A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	SLC35A2	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 DD-Gene2Phenotype Expert Review Green Phenotypes Epileptic Encephalopathy due to congenital disorder of glycosylation Tags
Green Green List (high evidence)	SLC35C1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265 Tags
Green Green List (high evidence)	SLC35D1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHNECKENBECKEN DYSPLASIA 269250 Tags
Green Green List (high evidence)	SLC37A4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SLC37A4-related congenital disorder of glycosylation with liver dysfunction Glycogen storage disease Ib, OMIM:232220 Tags
Green Green List (high evidence)	SLC38A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SLC38A3-associated epileptic encephalopathy. Tags
Green Green List (high evidence)	SLC39A13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA 612350 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668 Tags
Green Green List (high evidence)	SLC39A8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability with Cerebellar Atrophy Tags
Green Green List (high evidence)	SLC45A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual disability and epilepsy Tags
Green Green List (high evidence)	SLC46A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY FOLATE MALABSORPTION 229050 Tags
Green Green List (high evidence)	SLC4A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800 RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590 Tags
Green Green List (high evidence)	SLC4A11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268 Tags
Green Green List (high evidence)	SLC4A4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278 Tags
Green Green List (high evidence)	SLC52A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 2 Tags
Green Green List (high evidence)	SLC52A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BROWN-VIALETTO-VAN LAERE SYNDROME 211530 Tags
Green Green List (high evidence)	SLC5A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THYROID HORMONOGENESIS DEFECT I 274400 Tags
Green Green List (high evidence)	SLC5A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SLC5A6-related Neurodevelopmental Disorder Tags
Green Green List (high evidence)	SLC5A7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital Myasthenic Syndrome with Episodic Apnea Tags
Green Green List (high evidence)	SLC6A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES Tags
Green Green List (high evidence)	SLC6A17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 616269 Tags
Green Green List (high evidence)	SLC6A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PARKINSONISM-DYSTONIA, INFANTILE 319029 Tags
Green Green List (high evidence)	SLC6A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPEREKPLEXIA 149400 Tags
Green Green List (high evidence)	SLC6A8	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes X-LINKED CREATINE DEFICIENCY SYNDROME 300352 Tags
Green Green List (high evidence)	SLC6A9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Glycine Encephalopathy with Arthrogryposis Tags
Green Green List (high evidence)	SLC9A6	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243 Tags
Green Green List (high evidence)	SLF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SLF2-related developmental disorder Tags
Green Green List (high evidence)	SLX4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP P 613951 Tags
Green Green List (high evidence)	SMAD3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMAD3-RELATED LOEYS-DIETZ SYNDROME 319643 Tags
Green Green List (high evidence)	SMAD4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 MYHRE SYNDROME, OMIM:139210 Tags
Green Green List (high evidence)	SMARCA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COFFIN SIRIS 135900 NICOLAIDES-BARAITSER SYNDROME 601358 Tags
Green Green List (high evidence)	SMARCA4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COFFIN SIRIS 135900 RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325 Tags
Green Green List (high evidence)	SMARCAL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900 Tags
Green Green List (high evidence)	SMARCB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHMT1-like SYNDROME RHABDOID PREDISPOSITION SYNDROME 1 609322 Tags
Green Green List (high evidence)	SMARCC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic Intellectual Disability and Developmental Delay Tags
Green Green List (high evidence)	SMARCD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags
Green Green List (high evidence)	SMARCE1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COFFIN SIRIS 135900 Tags
Green Green List (high evidence)	SMC1A	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 DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE SYNDROME TYPE 2 300590 EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	SMC3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE SYNDROME TYPE 3 610759 Tags
Green Green List (high evidence)	SMC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMC5-related developmental disorder Tags
Green Green List (high evidence)	SMCHD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Isolated Arhinia/Bosma Arhinia syndrome Tags
Green Green List (high evidence)	SMG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMG8-related Developmental Disorder Tags
Green Green List (high evidence)	SMG9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMG9 Multiple Congenital Anomaly Syndrome Tags
Green Green List (high evidence)	SMO	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Curry-Jones Syndrome, OMIM:601707 SMO-related developmental disorder Tags mosaicism
Green Green List (high evidence)	SMOC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OPHTHALMOACROMELIC SYNDROME 206920 Tags
Green Green List (high evidence)	SMOC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH 125400 Tags
Green Green List (high evidence)	SMPD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIEMANN-PICK DISEASE TYPE B 607616 NIEMANN-PICK DISEASE TYPE A 257200 Tags
Green Green List (high evidence)	SMPD4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental Disorder with Microcephaly and Congenital Arthrogryposis Tags
Green Green List (high evidence)	SMS	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SNYDER-ROBINSON SYNDROME 309583 Tags
Green Green List (high evidence)	SNAP25	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epilepsy and intellectual disability Tags
Green Green List (high evidence)	SNAP29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEDNIK SYNDROME 609528 Tags
Green Green List (high evidence)	SNORD118	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Leukoencephalopathy with cerebral calcification & cysts 614561 Tags
Green Green List (high evidence)	SNRPB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRO-COSTO-MANDIBULAR SYNDROME Tags
Green Green List (high evidence)	SNRPE	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059 Tags
Green Green List (high evidence)	SNX14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA Tags
Green Green List (high evidence)	SON	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability, Congenital Malformations, and Failure to Thrive Tags
Green Green List (high evidence)	SOS1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME 4 610733 Tags
Green Green List (high evidence)	SOS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SOS-2 associated Noonan syndrome, OMIM:616559 Tags
Green Green List (high evidence)	SOX10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WAARDENBURG SYNDROME TYPE 2E 611584 KALLMANN SYNDROME WITH DEAFNESS WAARDENBURG SYNDROME TYPE 4C 613266 YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 601706 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136 Tags
Green Green List (high evidence)	SOX11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866 Tags
Green Green List (high evidence)	SOX17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VESICOURETERAL REFLUX TYPE 3 613674 Tags
Green Green List (high evidence)	SOX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AEG SYNDROME MICROPHTHALMIA SYNDROMIC TYPE 3 206900 Tags
Green Green List (high evidence)	SOX3	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 DD-Gene2Phenotype Expert Review Green Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Panhypopituitarism, X-linked, OMIM:312000 Panhypopituitarism, X-linked, MONDO:0010712 Tags
Green Green List (high evidence)	SOX4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental Disease Associated with Mild Dysmorphism Tags
Green Green List (high evidence)	SOX5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	SOX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SOX6-related neurodevelopmental syndrome Tags
Green Green List (high evidence)	SOX9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PIERRE ROBIN SEQUENCE CAMPOMELIC DYSPLASIA 114290 Tags
Green Green List (high evidence)	SPAG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. Tags
Green Green List (high evidence)	SPARC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOGENESIS IMPERFECTA, TYPE XVII 616507 Tags
Green Green List (high evidence)	SPAST	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPAST-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	SPATA5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577 Tags new-gene-name
Green Green List (high evidence)	SPATA5L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPATA5L1-associated sensorineural hearing loss and intellectual disability Tags gene-checked new-gene-name
Green Green List (high evidence)	SPECC1L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FACIAL CLEFTING, OBLIQUE, 1 600251 Tags
Green Green List (high evidence)	SPEG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959 Tags
Green Green List (high evidence)	SPEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPEN-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	SPG11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA-11 604360 Tags
Green Green List (high evidence)	SPOP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPOP-related Neurodevelopmental Disorder, gain of function SPOP-related Neurodevelopmental Disorder, dominant negative Tags
Green Green List (high evidence)	SPR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716 Tags
Green Green List (high evidence)	SPRED1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEGIUS SYNDROME 611431 Tags
Green Green List (high evidence)	SPRED2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPRED2-related Noonan syndrome Tags
Green Green List (high evidence)	SPTAN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477 Tags
Green Green List (high evidence)	SPTBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPTBN1-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	SPTBN2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCA14 Infantile ataxia with oculomotor and pyramidal signs Tags
Green Green List (high evidence)	SPTBN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519 Tags
Green Green List (high evidence)	SPTLC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 Tags
Green Green List (high evidence)	SRCAP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FLOATING-HARBOR SYNDROME 136140 Tags
Green Green List (high evidence)	SRD5A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	SRP54	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic neutropenia with Shwachman-Diamond-like features Tags
Green Green List (high evidence)	SRRM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SRRM2-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	SRY	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 46XY SEX REVERSAL 1 400044 Tags y-chromosome
Green Green List (high evidence)	ST14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS 610765 Tags
Green Green List (high evidence)	ST3GAL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612 Tags
Green Green List (high evidence)	ST3GAL5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMISH INFANTILE EPILEPSY SYNDROME 319543 Tags
Green Green List (high evidence)	STAC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995 Tags
Green Green List (high evidence)	STAG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes STAG1 syndromic intellectual disability Tags
Green Green List (high evidence)	STAG2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes STAG2-related developmental delay with microcephaly and congenital anomalies Tags
Green Green List (high evidence)	STAMBP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME Tags
Green Green List (high evidence)	STAR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710 Tags
Green Green List (high evidence)	STAT5B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590 Tags
Green Green List (high evidence)	STIL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY PRIMARY TYPE 7 612703 Tags
Green Green List (high evidence)	STN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 Tags
Green Green List (high evidence)	STRA6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 9 601186 Tags
Green Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 Tags
Green Green List (high evidence)	STS	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ICHTHYOSIS, X-LINKED 308100 Tags
Green Green List (high evidence)	STT3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596 Tags
Green Green List (high evidence)	STX1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172 Tags
Green Green List (high evidence)	STXBP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 612164 ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER Tags
Green Green List (high evidence)	SUCLG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FATAL INFANTILE LACTIC ACIDOSIS 308078 Tags
Green Green List (high evidence)	SUFU	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Joubert Syndrome with Cranio-facial and Skeletal Defects SUFU-related Joubert and congenital ocular motor apraxia Tags
Green Green List (high evidence)	SUMF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SULFATIDOSIS, JUVENILE, AUSTIN TYPE 272200 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Sulfite oxidase deficiency, OMIM:272300 Tags
Green Green List (high evidence)	SURF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000 COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	SUZ12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Weaver-like overgrowth syndrome Tags
Green Green List (high evidence)	SYN1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS 290927 Tags
Green Green List (high evidence)	SYNE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 Tags
Green Green List (high evidence)	SYNGAP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 612621 EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	SYP	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED SYP-RELATED 300802 Tags
Green Green List (high evidence)	SYT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	SYT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYT2-related congenital onset presynaptic myasthenic syndrome Tags
Green Green List (high evidence)	SZT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM Tags
Green Green List (high evidence)	TAB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 612863 Tags
Green Green List (high evidence)	TAC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOGONADOTROPIC HYPOGONADISM 146110 Tags
Green Green List (high evidence)	TACO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY 256000 Tags
Green Green List (high evidence)	TACR3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOGONADOTROPIC HYPOGONADISM 146110 Tags
Green Green List (high evidence)	TAF1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Dysmorphic Features, Intellectual Disability, and Neurological Manifestations Tags
Green Green List (high evidence)	TAF13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal-Recessive Intellectual Disability and Microcephaly Tags
Green Green List (high evidence)	TAF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TAF8-associated neurodevelopmental disorder Tags
Green Green List (high evidence)	TANGO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy Tags
Green Green List (high evidence)	TAOK1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY 616579 Tags
Green Green List (high evidence)	TAPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Tags
Green Green List (high evidence)	TARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Non-photosensitive trichothiodystrophy Tags new-gene-name
Green Green List (high evidence)	TASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TASP1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	TAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TYROSINEMIA TYPE 2 276600 Tags
Green Green List (high evidence)	TAZ	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARTH SYNDROME 302060 Tags new-gene-name
Green Green List (high evidence)	TBC1D20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Warburg micro syndrome 4 Tags
Green Green List (high evidence)	TBC1D23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Non-degenerative Pontocerebellar Hypoplasia Tags
Green Green List (high evidence)	TBC1D24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DOORS SYNDROME 220500 MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021 NON SYNDROMAL HEARING LOSS 614617 Tags
Green Green List (high evidence)	TBC1D2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TBC1D2B-related neurodevelopmental disorder Tags gene-checked
Green Green List (high evidence)	TBCD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Early-Onset Neurodegenerative Encephalopathy Tags
Green Green List (high evidence)	TBCE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 Tags
Green Green List (high evidence)	TBCK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe Infantile Syndromic Encephalopathy Tags
Green Green List (high evidence)	TBL1XR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Pierpont syndrome Intellectual disability with autism spectrum disorder Tags
Green Green List (high evidence)	TBR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTISM 209850 Tags
Green Green List (high evidence)	TBX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 22Q11.2 DELETION SYNDROME 188400 Tags
Green Green List (high evidence)	TBX15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature Cousin Syndrome Tags
Green Green List (high evidence)	TBX18	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 143400 Tags
Green Green List (high evidence)	TBX20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATRIAL SEPTAL DEFECT TYPE 4 611363 Tags
Green Green List (high evidence)	TBX22	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLEFT PALATE, X-LINKED 304011 Tags
Green Green List (high evidence)	TBX3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ULNAR-MAMMARY SYNDROME 181450 Tags
Green Green List (high evidence)	TBX4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMALL PATELLA SYNDROME 147891 Tags
Green Green List (high evidence)	TBX5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOLT-ORAM SYNDROME 142900 Tags
Green Green List (high evidence)	TBXAS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GHOSAL HEMATODIAPHYSEAL SYNDROME 231095 Tags
Green Green List (high evidence)	TCEAL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TCEAL1-related neurodevelopmental disorder Tags de novo
Green Green List (high evidence)	TCF12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORONAL CRANIOSYNOSTOSIS Tags
Green Green List (high evidence)	TCF20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TCF20 syndrome Tags
Green Green List (high evidence)	TCF4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PITT-HOPKINS SYNDROME 610954 Tags
Green Green List (high evidence)	TCF7L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TCF7L2-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	TCN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Transcobalamin II deficiency Tags
Green Green List (high evidence)	TCOF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TREACHER COLLINS SYNDROME TYPE 1 154500 Tags
Green Green List (high evidence)	TCTN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME AND RELATED DISORDERS 194263 Tags
Green Green List (high evidence)	TCTN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME AND RELATED DISORDERS 194263 Tags
Green Green List (high evidence)	TCTN3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOHR-MAJEWSKI SYNDROME 258860 Tags
Green Green List (high evidence)	TECPR2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY SPASTIC PARAPARESIS 615031 Tags
Green Green List (high evidence)	TEK	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 600195 Tags
Green Green List (high evidence)	TELO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TELO2 Syndromic Intellectual Disability Disorder Tags
Green Green List (high evidence)	TERC	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 1 Tags
Green Green List (high evidence)	TERT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 4 Tags
Green Green List (high evidence)	TET3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TET3 DNA Demethylation Disorder biallelic TET3 DNA Demethylation Disorder monoallelic Tags
Green Green List (high evidence)	TFAP2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRANCHIOOCULOFACIAL SYNDROME 113620 Tags
Green Green List (high evidence)	TFAP2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHAR SYNDROME 169100 Tags
Green Green List (high evidence)	TFE3	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 DD-Gene2Phenotype Expert Review Green Phenotypes TFE3-related intellectual disability with pigmentary mosaicism Intellectual disability with pigmentary mosaicism and storage disorder Tags
Green Green List (high evidence)	TGDS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATEL-MANZKE SYNDROME 616145 Tags
Green Green List (high evidence)	TGFB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Camurati-Engelmann disease, OMIM:131300 Tags
Green Green List (high evidence)	TGFB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 Tags
Green Green List (high evidence)	TGFB3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME 615582 Tags
Green Green List (high evidence)	TGFBR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME TYPE 2A 608967 LOEYS-DIETZ SYNDROME TYPE 1A 609192 AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 609192 Tags
Green Green List (high evidence)	TGFBR2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME TGFBR2-RELATED LOEYS-DIETZ SYNDROME 249163 Tags
Green Green List (high evidence)	TGIF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOLOPROSENCEPHALY 609637 Tags
Green Green List (high evidence)	TH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DOPA-RESPONSIVE DYSTONIA 605407 Tags
Green Green List (high evidence)	THAP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSTONIA 6, TORSION 602629 Tags
Green Green List (high evidence)	THOC2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, X-LINKED 12 300957 Tags
Green Green List (high evidence)	THOC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Beaulieu-Boycott-Innes syndrome Tags
Green Green List (high evidence)	THRA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450 Tags
Green Green List (high evidence)	THUMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THUMPD1 neurodevelopment disorder Tags
Green Green List (high evidence)	TIMM8A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOHR-TRANEBJAERG SYNDROME 304700 JENSEN SYNDROME 311150 Tags
Green Green List (high evidence)	TINF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE Tags
Green Green List (high evidence)	TK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 258276 Tags
Green Green List (high evidence)	TKT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Short Stature, Developmental Delay, and Congenital Heart Defects Tags
Green Green List (high evidence)	TLK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TLK2 syndrome Tags
Green Green List (high evidence)	TMCO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980 Tags
Green Green List (high evidence)	TMEM106B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TMEM106B related hypomyelinating leukodystrophy Tags
Green Green List (high evidence)	TMEM126B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Muscle Weakness and Isolated Complex I Deficiency Tags
Green Green List (high evidence)	TMEM147	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TMEM147-related developmental disorder Tags
Green Green List (high evidence)	TMEM163	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TMEM163-related hypomyelinating leukodystrophy Tags de novo gene-checked
Green Green List (high evidence)	TMEM165	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK 614727 Tags
Green Green List (high evidence)	TMEM199	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Disorder of Golgi homeostasis Tags
Green Green List (high evidence)	TMEM216	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 2 608091 Tags
Green Green List (high evidence)	TMEM218	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TMEM218-associated ciliopathy Tags gene-checked
Green Green List (high evidence)	TMEM222	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470 Tags gene-checked
Green Green List (high evidence)	TMEM237	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 14 614424 Tags
Green Green List (high evidence)	TMEM240	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454 Tags
Green Green List (high evidence)	TMEM251	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TMEM251-related skeletal dysplasia Tags gene-checked new-gene-name
Green Green List (high evidence)	TMEM260	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Structural heart defects and renal anomalies syndrome OMIM:617478 Structural heart defects and renal anomalies syndrome MONDO:0044321 Tags
Green Green List (high evidence)	TMEM5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE COBBLESTONE LISSENCEPHALY 615041 Tags new-gene-name
Green Green List (high evidence)	TMEM63A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Transient Hypomyelination during Infancy Tags gene-checked
Green Green List (high evidence)	TMEM63C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TMEM63C-associated hereditary spastic paraplegia Tags gene-checked
Green Green List (high evidence)	TMEM67	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHRONOPHTHISIS TYPE 11 613550 MECKEL SYNDROME TYPE 3 607361 COACH SYNDROM 216360 JOUBERT SYNDROME TYPE 6 610688 Tags
Green Green List (high evidence)	TMEM70	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052 Tags
Green Green List (high evidence)	TMEM94	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism Tags gene-checked
Green Green List (high evidence)	TMPRSS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IRON-REFRACTORY IRON DEFICIENCY ANEMIA 206200 Tags
Green Green List (high evidence)	TMTC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Cobblestone Lissencephaly Tags
Green Green List (high evidence)	TMX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Primary microcephaly, cortical malformation and epileptic encephalopathy Tags
Green Green List (high evidence)	TNFRSF13B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500 Tags
Green Green List (high evidence)	TNNT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TNNT3-associated congenital myopathy (biallelic) Tags
Green Green List (high evidence)	TNRC6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TNRC6B-related neurodevelopmental disorder Tags
Green Green List (high evidence)	TOE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA Tags
Green Green List (high evidence)	TOGARAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOGARAM1-related ciliopathy Tags
Green Green List (high evidence)	TOP3A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Bloom Syndrome like Disorder Tags
Green Green List (high evidence)	TP53RK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALLOWAY-MOWAT SYNDROME 4, 617730 Tags
Green Green List (high evidence)	TP63	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE 129400 NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 129400 SPLIT-HAND/FOOT MALFORMATION TYPE 4 605289 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260 ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 604292 LIMB-MAMMARY SYNDROME 603543 ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 103285 Tags
Green Green List (high evidence)	TP73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466 Tags
Green Green List (high evidence)	TPM2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, DISTAL, TYPE 1 108120 Tags
Green Green List (high evidence)	TPM3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Nemaline/Cap myopathy Tags
Green Green List (high evidence)	TPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500 Tags
Green Green List (high evidence)	TPP2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Literature Phenotypes autoimmunity Developmental delay immunodefficiency TPP2-related immune deficiency, autoimmune disease and intellectual disability Tags
Green Green List (high evidence)	TRA2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRA2B-associated neurodevelopmental syndrome Tags gene-checked
Green Green List (high evidence)	TRAF7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental Delay Congenital Anomalies and Dysmorphic Features Tags
Green Green List (high evidence)	TRAIP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMORDIAL DWARFISM 615272 Tags
Green Green List (high evidence)	TRAPPC11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356 Tags
Green Green List (high evidence)	TRAPPC12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Progressive Childhood Encephalopathy and Golgi Dysfunction Tags polygenic
Green Green List (high evidence)	TRAPPC2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400 Tags
Green Green List (high evidence)	TRAPPC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, OMIM:618741 Tags
Green Green List (high evidence)	TRAPPC9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 613192 Tags
Green Green List (high evidence)	TREX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750 Tags
Green Green List (high evidence)	TRIM32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 11 209900 LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H 254110 Tags
Green Green List (high evidence)	TRIM37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULIBREY NANISM 213300 Tags
Green Green List (high evidence)	TRIM8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRIM8-related neurodevelopmental disorder Tags
Green Green List (high evidence)	TRIO	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	TRIP11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACHONDROGENESIS TYPE 1A 200600 Tags
Green Green List (high evidence)	TRIP12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRIP12-related intellectual disability with/without autism spectrum disorder Tags
Green Green List (high evidence)	TRIP13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mosaic Variegated Aneuploidy and Wilms Tumour Tags
Green Green List (high evidence)	TRIP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures Tags
Green Green List (high evidence)	TRIT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes tRNA isopentenyltransferase deficiency Tags gene-checked
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302 Tags
Green Green List (high evidence)	TRMT10C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies Tags
Green Green List (high evidence)	TRNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959 Tags
Green Green List (high evidence)	TRPM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 613216 Tags
Green Green List (high evidence)	TRPM3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRPM3-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	TRPS1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 190350 Tags
Green Green List (high evidence)	TRPV3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OLMSTED SYNDROME 614594 Tags
Green Green List (high evidence)	TRPV4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METATROPIC DYSPLASIA 156530 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252 Tags
Green Green List (high evidence)	TRPV6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Transient Neonatal Hyperparathyroidism Tags
Green Green List (high evidence)	TRRAP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autism and Syndromic Intellectual Disability Tags
Green Green List (high evidence)	TSC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TUBEROUS SCLEROSIS TYPE 1 191100 Tags
Green Green List (high evidence)	TSC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TUBEROUS SCLEROSIS TYPE 2 613254 LYMPHANGIOLEIOMYOMATOSIS 606690 Tags
Green Green List (high evidence)	TSEN15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Pontocerebellar Hypoplasia and Progressive Microcephaly Tags
Green Green List (high evidence)	TSEN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Tags
Green Green List (high evidence)	TSEN34	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Tags
Green Green List (high evidence)	TSEN54	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Tags
Green Green List (high evidence)	TSHB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 275100 Tags
Green Green List (high evidence)	TSHR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200 Tags
Green Green List (high evidence)	TSPAN7	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 58 300210 Tags
Green Green List (high evidence)	TTC19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY 124000 Tags
Green Green List (high evidence)	TTC25	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization Tags new-gene-name
Green Green List (high evidence)	TTC37	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRICHOHEPATOENTERIC SYNDROME 222470 Tags new-gene-name
Green Green List (high evidence)	TTC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TTC5-associated neurodevelopmental disorder Tags gene-checked
Green Green List (high evidence)	TTC7A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTESTINAL ATRESIA, MULTIPLE 243150 Tags
Green Green List (high evidence)	TTC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 8 209900 RETINITIS PIGMENTOSA TYPE 51 613464 Tags
Green Green List (high evidence)	TTI2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	TTN	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705 Tags
Green Green List (high evidence)	TUBA1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LISSENCEPHALY TYPE 3 611603 INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	TUBB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Circumferential Skin Creases Kunze Type 156610 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 Tags
Green Green List (high evidence)	TUBB2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 615763 Tags
Green Green List (high evidence)	TUBB2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POLYMICROGYRIA ASYMMETRIC 610031 Tags
Green Green List (high evidence)	TUBB3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 614039 Tags
Green Green List (high evidence)	TUBB4A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM Tags
Green Green List (high evidence)	TUBG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Posteriorly predominant pachygyria and severe microcephaly Tags
Green Green List (high evidence)	TUBGCP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Microcephaly and Lissencephaly Spectrum Disorders Tags gene-checked
Green Green List (high evidence)	TUBGCP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. Tags
Green Green List (high evidence)	TUBGCP6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION 251270 Tags
Green Green List (high evidence)	TUFM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678 Tags
Green Green List (high evidence)	TUSC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 611093 Tags
Green Green List (high evidence)	TWIST1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOSYNOSTOSIS, TYPE 1 123100 SAETHRE-CHOTZEN SYNDROME 101400 Tags
Green Green List (high evidence)	TWIST2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SETLEIS SYNDROME, OMIM:227260 ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 Tags
Green Green List (high evidence)	TXNL4A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BURN MCKEOWN SYNDROME 608572 Tags
Green Green List (high evidence)	TYR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OCULOCUTANEOUS ALBINISM TYPE 1 203100 Tags
Green Green List (high evidence)	TYRP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OCULOCUTANEOUS ALBINISM TYPE 3 203290 Tags
Green Green List (high evidence)	U2AF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes U2AF2-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	UBA5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe Infantile-Onset Encephalopathy Tags
Green Green List (high evidence)	UBAP2L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UBAP2L-associated neurodevelopmental disorder Tags
Green Green List (high evidence)	UBE2A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION 319562 Tags
Green Green List (high evidence)	UBE2T	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP T 616435 Tags
Green Green List (high evidence)	UBE3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANGELMAN SYNDROME 105830 Tags
Green Green List (high evidence)	UBE3B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BLEPHAROPHIMOSIS-MENTAL RETARDATION 615057 Tags
Green Green List (high evidence)	UBE4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UBE4A-associated neurodevelopmental disorder Tags
Green Green List (high evidence)	UBR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOHANSON-BLIZZARD SYNDROME 243800 Tags
Green Green List (high evidence)	UBR7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	UBTF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Childhood-Onset Neurodegeneration Tags
Green Green List (high evidence)	UFC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe early-onset encephalopathy with progressive microcephaly Tags
Green Green List (high evidence)	UFM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe early-onset encephalopathy with progressive microcephaly, Tags
Green Green List (high evidence)	UGP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UGP2 Epileptic Encephalopathy Tags
Green Green List (high evidence)	UGT1A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRIGLER-NAJJAR SYNDROME, TYPE I 218800 Tags
Green Green List (high evidence)	UMPS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OROTIC ACIDURIA TYPE 1 258900 Tags
Green Green List (high evidence)	UNC45A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Osteootohepatoenteric syndrome Tags
Green Green List (high evidence)	UNC45B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UNC45B-associated Progressive Myopathy with Eccentric Cores Tags
Green Green List (high evidence)	UNC80	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability Tags
Green Green List (high evidence)	UPF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UPF1-related developmental disorder (monoallelic) Tags gene-checked
Green Green List (high evidence)	UPF3B	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 300676 Tags
Green Green List (high evidence)	UQCRB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED 257827 Tags
Green Green List (high evidence)	UQCRFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis Tags
Green Green List (high evidence)	UQCRQ	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED 319211 Tags
Green Green List (high evidence)	UROC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UROCANASE DEFICIENCY 276880 Tags
Green Green List (high evidence)	UROS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700 Tags
Green Green List (high evidence)	USB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Poikiloderma with neutropenia Tags
Green Green List (high evidence)	USP18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe pseudo-TORCH syndrome Tags
Green Green List (high evidence)	USP27X	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	USP7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes USP7-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	USP9X	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 DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, X-LINKED 99 300919 Tags
Green Green List (high evidence)	UVSSA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UV-SENSITIVE SYNDROME 609413 Tags
Green Green List (high evidence)	VAMP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY 616579 Tags
Green Green List (high evidence)	VDR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RICKETS VITAMIN D-DEPENDENT TYPE 2A 277440 Tags
Green Green List (high evidence)	VIPAS39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404 Tags
Green Green List (high evidence)	VLDLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 224050 Tags
Green Green List (high evidence)	VPS13B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COHEN SYNDROME 193538 Tags
Green Green List (high evidence)	VPS33B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164 Tags
Green Green List (high evidence)	VPS4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CIMDAG Syndrome, biallelic CIMDAG Syndrome, monoallelic Tags
Green Green List (high evidence)	VPS53	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Progressive cerebella-cerebral atrophy type 2 Tags
Green Green List (high evidence)	VRK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 Tags
Green Green List (high evidence)	VSX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED TYPE 2 610093 MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 610092 MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092 Tags
Green Green List (high evidence)	WAC	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY WAC syndrome Tags
Green Green List (high evidence)	WARS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WARS1-associated neurodevelopmental syndrome Distal hereditary motor neuropathy Tags new-gene-name
Green Green List (high evidence)	WASF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability with Seizures Tags
Green Green List (high evidence)	WASHC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210 Tags
Green Green List (high evidence)	WDFY3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Primary Microcephaly or macrocephaly with developmental delay Tags
Green Green List (high evidence)	WDPCP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 15 209900 Tags
Green Green List (high evidence)	WDR11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KALLMANN SYNDROME Tags
Green Green List (high evidence)	WDR19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOECTODERMAL DYSPLASIA 4 614378 ASPHYXIATING THORACIC DYSTROPHY 5 614376 Tags
Green Green List (high evidence)	WDR26	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features Tags
Green Green List (high evidence)	WDR34	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHORT-RIB POLYDACTYLY SYNDROME TYPE III SEVERE ASPHYXIATING THORACIC DYSPLASIA Tags new-gene-name
Green Green List (high evidence)	WDR35	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOECTODERMAL DYSPLASIA 2 613610 SHORT RIB-POLYDACTYLY SYNDROME, TYPE V 614091 Tags
Green Green List (high evidence)	WDR37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags gene-checked
Green Green List (high evidence)	WDR45	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 DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEGENERATION WITH BRAIN IRON ACCUMULATION Tags
Green Green List (high evidence)	WDR45B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	WDR5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WDR5-related neurodevelopmental disorder Tags de novo gene-checked
Green Green List (high evidence)	WDR60	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JEUNE SYNDROMES SHORT-RIB POLYDACTYLY Tags new-gene-name
Green Green List (high evidence)	WDR62	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317 Tags
Green Green List (high evidence)	WDR73	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME Tags
Green Green List (high evidence)	WFS1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Wolfram-like syndrome, autosomal dominant, OMIM:614296 WOLFRAM SYNDROME 1, OMIM:222300 Tags
Green Green List (high evidence)	WNK3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WNK3-related neurodevelopmental disorder Prieto syndrome, OMIM:309610 Tags
Green Green List (high evidence)	WNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOGENESIS IMPERFECTA Tags
Green Green List (high evidence)	WNT10B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Split-hand/foot malformation 6, OMIM:225300 Tags
Green Green List (high evidence)	WNT3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TETRA-AMELIA SYNDROME 276069 Tags
Green Green List (high evidence)	WNT4	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM 158330 SERKAL SYNDROME 611812 Tags
Green Green List (high evidence)	WNT5A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700 Tags
Green Green List (high evidence)	WNT7A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FUHRMANN SYNDROME 228930 LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME 276820 Tags
Green Green List (high evidence)	WRAP53	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 613988 Tags
Green Green List (high evidence)	WT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DENYS-DRASH SYNDROME 194080 FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME 136680 Tags
Green Green List (high evidence)	WWOX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 614322 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 616211 Tags
Green Green List (high evidence)	XPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM, GROUP A 278700 Tags
Green Green List (high evidence)	XPC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM, GROUP C 278720 Tags
Green Green List (high evidence)	XRCC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMORDIAL DWARFISM 615272 Tags
Green Green List (high evidence)	XYLT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DESBUQUOIS DYSPLASIA 2, OMIM:615777 Baratela Scott Syndrome, OMIM:615777 Tags
Green Green List (high evidence)	XYLT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOOCULAR SYNDROME 605822 Tags
Green Green List (high evidence)	YAP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 120433 Tags
Green Green List (high evidence)	YARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561 Tags
Green Green List (high evidence)	YRDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes YRDC-associated nephrotic syndrome and microcephaly Tags
Green Green List (high evidence)	YWHAG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Early-Onset Epilepsy Tags
Green Green List (high evidence)	YY1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY, OMIM:616579 Tags
Green Green List (high evidence)	ZBTB18	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZBTB18 syndrome Tags
Green Green List (high evidence)	ZBTB20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMROSE SYNDROME 259050 Tags
Green Green List (high evidence)	ZC4H2	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 DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 Tags
Green Green List (high evidence)	ZDHHC9	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mental retardation, X-linked syndromic, Raymond type, OMIM:300799 Tags
Green Green List (high evidence)	ZEB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOWAT-WILSON SYNDROME 235730 Tags
Green Green List (high evidence)	ZFHX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZFHX4-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	ZFP57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL 601410 Tags
Green Green List (high evidence)	ZFYVE19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZFYVE19-related congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis Tags gene-checked
Green Green List (high evidence)	ZFYVE26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700 Tags
Green Green List (high evidence)	ZIC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOSYNOSTOSIS 6 616602 Tags
Green Green List (high evidence)	ZIC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOLOPROSENCEPHALY 609637 Tags
Green Green List (high evidence)	ZIC3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 319683 HETEROTAXY SYNDROME 207574 Tags
Green Green List (high evidence)	ZMIZ1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic Neurodevelopmental Disorder Tags
Green Green List (high evidence)	ZMPSTE24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 608612 LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED 319186 Tags
Green Green List (high evidence)	ZMYM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZMYM2-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	ZMYM3	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 DD-Gene2Phenotype Expert Review Green Phenotypes ZMYM3-related neurodevelopmental disorder Tags
Green Green List (high evidence)	ZMYND10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA-22 615444 Tags
Green Green List (high evidence)	ZMYND11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	ZMYND8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZMYND8-related neurodevelopmental disorder Tags gene-checked
Green Green List (high evidence)	ZNF142	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZNF142-related neurodevelopmental disorder, OMIM:618425 Tags
Green Green List (high evidence)	ZNF148	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZNF148-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	ZNF292	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZNF292-related developmental disorder (monoallelic) Tags
Green Green List (high evidence)	ZNF462	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay Tags
Green Green List (high evidence)	ZNF711	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED ZNF711-RELATED 300803 Tags
Green Green List (high evidence)	ZNF750	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS 610227 Tags
Green Green List (high evidence)	ZSWIM6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROMELIC FRONTONASAL DYSOSTOSIS 603671 Tags
Red Red List (low evidence)	ABCB6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497 Tags
Red Red List (low evidence)	ACBD6	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ACVR2B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes HETEROTAXY SYNDROME 207574 Tags
Red Red List (low evidence)	ADARB1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ADARB1-associated Microcephaly, Intellectual Disability, and Seizures Tags
Red Red List (low evidence)	ADK	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ADRA2B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	AFG3L2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SPINOCEREBELLAR ATAXIA 28 610246 ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE 614487 Tags
Red Red List (low evidence)	ALAD	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ACUTE HEPATIC PORPHYRIA 612740 Tags
Red Red List (low evidence)	ANK2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ANK2-related neurodevelopmental disorder Tags
Red Red List (low evidence)	ANO1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ANO1-associated intestinal disease Tags
Red Red List (low evidence)	AP1B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MEDNIK-like Syndrome Tags
Red Red List (low evidence)	ARHGEF6	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION X-LINKED TYPE 46 300436 Tags
Red Red List (low evidence)	ARL14EP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ARNT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926 Tags
Red Red List (low evidence)	ASCC1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures Tags
Red Red List (low evidence)	ASCC3	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 Tags
Red Red List (low evidence)	ASCL1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ATG4D	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ATG4D-related neurodevelopmental disorder Tags
Red Red List (low evidence)	ATOH7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900 Tags
Red Red List (low evidence)	ATP6AP2	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423 Tags
Red Red List (low evidence)	ATP8A2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268 Tags
Red Red List (low evidence)	AXIN1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CAUDAL DUPLICATION ANOMALY, OMIM:607864 Tags
Red Red List (low evidence)	B3GAT3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600 Tags
Red Red List (low evidence)	BAZ2B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes BAZ2B-associated neurodevelopmental disorder Tags
Red Red List (low evidence)	BCORL1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Shukla-Vernon Syndrome Tags
Red Red List (low evidence)	BSN	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes BSN-related epilepsy Tags
Red Red List (low evidence)	CACNA1H	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942 Tags
Red Red List (low evidence)	CACNA2D1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CACNA2D1-related neurodevelopmental disorder Tags
Red Red List (low evidence)	CACNB4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 Tags
Red Red List (low evidence)	CAPN10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	CASP2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	CAV1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 612526 Tags
Red Red List (low evidence)	CCDC88A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PEHO-like syndrome Tags
Red Red List (low evidence)	CCNA2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	CCNK	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism Tags
Red Red List (low evidence)	CD96	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes C SYNDROME 211750 Tags
Red Red List (low evidence)	CDC40	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tags
Red Red List (low evidence)	CDC42BPB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CDC42BPB-related Neurodevelopmental Disorder Tags
Red Red List (low evidence)	CDH15	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 612580 Tags
Red Red List (low evidence)	CDK10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Severe Growth Retardation, Spine Malformations, and Developmental Delays Tags
Red Red List (low evidence)	CDK16	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	CHD5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy Tags
Red Red List (low evidence)	CHRM1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CHRM1-associated intellectual disability Tags
Red Red List (low evidence)	CHRNA2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 Tags
Red Red List (low evidence)	CLCNKA	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags polygenic
Red Red List (low evidence)	CLDN5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CLDN5-related neurodevelopmental disorder Tags
Red Red List (low evidence)	CLIC2	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Mental retardation, X-linked, syndromic 32 300886 Tags
Red Red List (low evidence)	CNKSR1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	COA5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Red Red List (low evidence)	COMP	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 Tags
Red Red List (low evidence)	COPB1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly Tags
Red Red List (low evidence)	COQ5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	COX14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Red Red List (low evidence)	CRADD	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 Tags
Red Red List (low evidence)	CRBN	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A 607417 Tags
Red Red List (low evidence)	CRIM1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Colobomatous macrophthalmia with microcornea syndrome Tags gene-checked
Red Red List (low evidence)	CRIPT	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789 Tags
Red Red List (low evidence)	CRKL	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Bladder exstrophy plus Tags
Red Red List (low evidence)	CRLS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CRLS1-related mitochondrial disorder Tags
Red Red List (low evidence)	CRYAB	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869 CATARACT POSTERIOR POLAR TYPE 2 613763 Tags
Red Red List (low evidence)	CRYBA4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 Tags
Red Red List (low evidence)	CRYGD	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Cataract 2, multiple types, OMIM:115700 Tags
Red Red List (low evidence)	CSDE1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CSDE1-associated intellectual disability and autism Tags
Red Red List (low evidence)	CSNK1G1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY Tags
Red Red List (low evidence)	CUX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT Tags
Red Red List (low evidence)	CYP24A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Hereditary 1,25-dihydroxyvitamin D-resistant rickets Tags
Red Red List (low evidence)	D2HGDH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes D-2-HYDROXYGLUTARIC ACIDURIA 1 600721 Tags
Red Red List (low evidence)	DACT1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems Tags
Red Red List (low evidence)	DCAF17	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes WOODHOUSE-SAKATI SYNDROME 241080 Tags
Red Red List (low evidence)	DDX54	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Intellectual Disability and Central Nervous System anomalies Tags
Red Red List (low evidence)	DDX58	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SINGLETON-MERTEN SYNDROME 182250 Tags new-gene-name
Red Red List (low evidence)	DGAT1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CONGENITAL DIARRHEAL DISORDERS Tags
Red Red List (low evidence)	DHRS3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DHRS3 related craniosynostosis Tags
Red Red List (low evidence)	DHX16	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Intellectual Disability, Central Nervous System anomalies and Seizures Tags
Red Red List (low evidence)	DHX34	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY 616579 Tags
Red Red List (low evidence)	DHX37	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Intellectual Disability and Central Nervous System anomalies Tags
Red Red List (low evidence)	DIP2B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION, FRA12A TYPE 136630 Tags
Red Red List (low evidence)	DISP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes HOLOPROSENCEPHALY, OMIM:609637 Tags
Red Red List (low evidence)	DLG5	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DLG5-associated developmental disorder (biallelic) DLG5-associated developmental disorder (monoallelic) Tags
Red Red List (low evidence)	DLL1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY 616579 Tags
Red Red List (low evidence)	DLX5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SPLIT HAND AND FOOT MALFORMATION 220600 Tags
Red Red List (low evidence)	DMPK	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DNA2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807 Tags
Red Red List (low evidence)	DNAH14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DNAH14-related Neurodevelopmental disorder Tags
Red Red List (low evidence)	DNAJB13	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Primary Ciliary Dyskinesia and Male Infertility Tags
Red Red List (low evidence)	DNAJB4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DNAJB4-related myopathy with early respiratory failure Tags
Red Red List (low evidence)	DSE	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539 Tags
Red Red List (low evidence)	EEF1B2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	EEF2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EEF2-related developmental disorder (monoallelic) Tags
Red Red List (low evidence)	EIF2AK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EIF2AK1-associated Neurodevelopmental Syndrome Tags
Red Red List (low evidence)	ELFN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ELFN1-related intellectual disability and epilepsy Tags
Red Red List (low evidence)	ELP2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	EMX2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes FAMILIAL SCHIZENCEPHALY, EMX2-RELATED 269160 Tags
Red Red List (low evidence)	ENTPD1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	EOMES	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS Tags
Red Red List (low evidence)	EPB41L1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	EPHB4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Capillary malformation-arteriovenous malformation 2 Tags
Red Red List (low evidence)	ERLIN2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ERMARD	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PERIVENTRICULAR HETEROTOPIA Tags
Red Red List (low evidence)	EXOSC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome Tags
Red Red List (low evidence)	FASN	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	FBLN1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180 Tags
Red Red List (low evidence)	FBXW4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560 Tags
Red Red List (low evidence)	FDFT1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Defect in Cholesterol Biosynthesis Tags
Red Red List (low evidence)	FEM1C	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes FEM1C-related developmental disorder Tags de novo
Red Red List (low evidence)	FLG	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ICHTHYOSIS VULGARIS 146700 Tags
Red Red List (low evidence)	FOXI3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes FOXI3-related microtia and craniofacial microsomia Tags
Red Red List (low evidence)	FOXP4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes FOXP4-related Developmental Disorder Tags
Red Red List (low evidence)	FRMD7	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NYSTAGMUS 1, CONGENITAL, X-LINKED 310700 Tags
Red Red List (low evidence)	FRY	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	FTO	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938 Tags
Red Red List (low evidence)	GABRG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GABRG1-associated epileptic encephalopathy Tags
Red Red List (low evidence)	GAD1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513 Tags
Red Red List (low evidence)	GDF3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MICROPHTHALMIA ISOLATED TYPE 7 613704 KLIPPEL-FEIL SYNDROME TYPE 3 613702 MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 6 613703 Tags
Red Red List (low evidence)	GDI1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION X-LINKED TYPE 48 300849 MENTAL RETARDATION X-LINKED TYPE 41 300849 Tags
Red Red List (low evidence)	GFER	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD 613076 Tags
Red Red List (low evidence)	GNB3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GNB3 Autosomal-Recessive Congenital Stationary Night Blindness. Tags
Red Red List (low evidence)	GNE	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GNE-associated congenital myopathy GNE-associated sialuria, OMIM:269921 Tags
Red Red List (low evidence)	GON4L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	GPHN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GPHN-related molybdenum cofactor deficiency, OMIM:615501 Tags
Red Red List (low evidence)	GRIA4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864 Tags
Red Red List (low evidence)	GTF2IRD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GTF2IRD1-related neurodevelopmental disorder Tags
Red Red List (low evidence)	HARS	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes USHER SYNDROME 614504 Tags new-gene-name
Red Red List (low evidence)	HIRA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes HIRA-related neurodevelopmental disorder Tags
Red Red List (low evidence)	HIST1H2AC	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes HIST1H2AC-related developmental disorder (monoallelic) Tags new-gene-name
Red Red List (low evidence)	HIST1H4B	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags new-gene-name
Red Red List (low evidence)	HIST3H3	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags new-gene-name
Red Red List (low evidence)	HMGB3	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature Tags
Red Red List (low evidence)	HOXA11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Tags
Red Red List (low evidence)	HTRA2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria Tags
Red Red List (low evidence)	IARS2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 616007 Tags
Red Red List (low evidence)	IGBP1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472 Tags
Red Red List (low evidence)	IL11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CRANIOSYNOSTOSIS AND DENTAL ANOMALIES 614188 Tags
Red Red List (low evidence)	INPP4A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ITGA6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 226730 Tags
Red Red List (low evidence)	JMJD1C	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes JMJD1C-related neurodevelopmental disorder Tags
Red Red List (low evidence)	KANK1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 612900 Tags
Red Red List (low evidence)	KCNA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes KCNA1-related epileptic encephalopathy, biallelic KCNA1-related epileptic encephalopathy, monoallelic Tags
Red Red List (low evidence)	KCNA4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes KCN4 related abnormal striatum, congenital cataract and intellectual disability. Tags
Red Red List (low evidence)	KCNK9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources DD-Gene2Phenotype Expert Review Red Phenotypes BIRK-BAREL SYNDROME, OMIM:612292 Tags
Red Red List (low evidence)	KCNT2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Developmental and infantile epileptic encephalopathy Tags
Red Red List (low evidence)	KDM5A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	KIAA0391	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PRORP-related mitochondrial disorder Tags new-gene-name
Red Red List (low evidence)	KIF3B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes KIF3B-related ciliopathy Tags
Red Red List (low evidence)	KIF4A	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	KIRREL3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581 Tags
Red Red List (low evidence)	KITLG	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes WAARDENBURG SYNDROME TYPE 2 Tags
Red Red List (low evidence)	KLF8	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NONSYNDROMIC MENTAL RETARDATION Tags
Red Red List (low evidence)	KLHL15	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	KPNA7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Gomez-Lopez-Fernandes syndrome Tags
Red Red List (low evidence)	LAGE3	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GALLOWAY-MOWAT SYNDROME 2, 301006 Tags
Red Red List (low evidence)	LAS1L	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	LDB3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 Tags
Red Red List (low evidence)	LEFTY2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes HETEROTAXY SYNDROME 207574 Tags
Red Red List (low evidence)	LMBRD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes LMBRD2-associated intellectual disability Tags
Red Red List (low evidence)	LRP6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Tooth Agenesis Tags
Red Red List (low evidence)	LRPAP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MYOPIA 23, AUTOSOMAL RECESSIVE 615431 EXTREME MYOPIA Tags
Red Red List (low evidence)	MAGI2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EARLY ONSET EPILEPTIC ENCEPHALOPATHY Tags
Red Red List (low evidence)	MAGT1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION X-LINKED TYPE 95 300716 Tags
Red Red List (low evidence)	MAN2A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MAN2A2-related disorder of glycosylation Tags
Red Red List (low evidence)	MAPK10	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 606369 Tags
Red Red List (low evidence)	MAU2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MAU2 neurodevelopmental disorder Tags
Red Red List (low evidence)	MED23	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249 Tags
Red Red List (low evidence)	MIB1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MIB1-related developmental disorder (monoallelic) Tags
Red Red List (low evidence)	MIR184	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EDICT SYNDROME 614303 KERATOCONUS WITH CATARACT Tags
Red Red List (low evidence)	MMP14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes WINCHESTER SYNDROME Tags
Red Red List (low evidence)	MMP15	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MMP15-related developmental disorder Tags
Red Red List (low evidence)	MPC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MPC2-related metabolic disorder Tags
Red Red List (low evidence)	MPDZ	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 615219 Tags
Red Red List (low evidence)	MSI1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MSI1-associated Microcephaly Tags
Red Red List (low evidence)	MT-TL1	1 review 1 red	MITOCHONDRIAL	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MT-TL1-associated mitochondrial disorder Tags
Red Red List (low evidence)	MTF1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	MYCBP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MYCBP2-related developmental delay with corpus callosum defects Tags
Red Red List (low evidence)	MYH10	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MYH10-related Multiple congenital anomalies Tags
Red Red List (low evidence)	MYH11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome Tags
Red Red List (low evidence)	MYH6	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CARDIOMYOPATHY DILATED TYPE 1EE 613252 CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251 ATRIAL SEPTAL DEFECT TYPE 3 614089 Tags
Red Red List (low evidence)	MYH8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 CARNEY COMPLEX VARIANT, OMIM:608837 Tags
Red Red List (low evidence)	MYL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414 Tags
Red Red List (low evidence)	MYOC	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 Tags
Red Red List (low evidence)	MYSM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MYSM1-related congenital bone marrow failure, OMIM:618116 Tags
Red Red List (low evidence)	MYT1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes OAVS/Goldenhar syndrome Tags
Red Red List (low evidence)	NAA20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NAA20-associated developmental delay and microcephaly Tags
Red Red List (low evidence)	NADK2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Dienoyl-CoA reductase deficiency with hyperlysinemia Tags
Red Red List (low evidence)	NCAPD2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Microcephaly with short stature Tags
Red Red List (low evidence)	NCAPD3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Microcephaly with short stature Tags
Red Red List (low evidence)	NCAPH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes microcephaly Tags
Red Red List (low evidence)	NCKAP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NCKAP1-related Neurodevelopmental Disorder Tags
Red Red List (low evidence)	NCOR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NCOR1-related developmental disorder Tags
Red Red List (low evidence)	NDST1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	NDUFA9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes LEIGH SYNDROME 256000 Tags
Red Red List (low evidence)	NDUFB7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy Tags
Red Red List (low evidence)	NECTIN1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME 225060 Tags
Red Red List (low evidence)	NLGN4X	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 300495 Tags
Red Red List (low evidence)	NOP10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230 NOP10-RELATED DYSKERATOSIS CONGENITA 318811 Tags
Red Red List (low evidence)	NOTCH3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INFANTILE MYOFIBROMATOSIS 615293 Tags
Red Red List (low evidence)	NR1I3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EHMT1-LIKE INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	NRXN3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTISM 209850 Tags
Red Red List (low evidence)	NSMCE3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DISTINCT DNA BREAKAGE SYNDROME Tags
Red Red List (low evidence)	NUP107	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GALLOWAY-MOWAT SYNDROME 7, OMIM:618348 Tags
Red Red List (low evidence)	OTUD7A	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes 15q13.3 deletions phenocopy Tags
Red Red List (low evidence)	PARP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	PCBP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PCBP2-related developmental disorder (monoallelic) Tags
Red Red List (low evidence)	PDIA6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy Tags
Red Red List (low evidence)	PECR	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	PHC1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PRIMARY MICROCEPHALY 615414 Tags
Red Red List (low evidence)	PIGM	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Glycosylphosphatidylinositol deficiency Tags
Red Red List (low evidence)	PIGQ	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 Tags
Red Red List (low evidence)	PIGW	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025 Tags
Red Red List (low evidence)	PIP5K1C	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 611369 Tags
Red Red List (low evidence)	PLCG2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 Familial cold autoinflammatory syndrome 3, OMIM:614468 Tags
Red Red List (low evidence)	PLCH1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes HPE-related disorder Tags
Red Red List (low evidence)	PLOD3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes LYSYL HYDROXYLASE 3 DEFICIENCY 612394 Tags
Red Red List (low evidence)	PLXNA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PLXNA1-associated neurodevelopmental disorder (biallelic) PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic) Tags
Red Red List (low evidence)	POLR3GL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Endosteal Hyperostosis and Oligodontia Tags
Red Red List (low evidence)	POMP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952 Tags
Red Red List (low evidence)	POT1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Coats Plus Tags
Red Red List (low evidence)	PPP1R15B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Severe microcephaly, short stature and intellectual disability Tags
Red Red List (low evidence)	PRDM15	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PRDM15-related renal and neurodevelopmental disorder Tags
Red Red List (low evidence)	PRDM6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Isolated Nonsyndromic Patent Ductus Arteriosus. Tags
Red Red List (low evidence)	PRMT9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	PROSER1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PROSER1-related developmental disorder Tags
Red Red List (low evidence)	PRRX1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AGNATHIA-OTOCEPHALY COMPLEX biallelic AGNATHIA-OTOCEPHALY COMPLEX monoallelic Tags
Red Red List (low evidence)	PSMC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PSMC1-related neurodevelopmental disorder Tags
Red Red List (low evidence)	PSMD12	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Global Developmental Delay, Multiple Malformations Tags
Red Red List (low evidence)	PTPRF	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ATHELIA Tags
Red Red List (low evidence)	QKI	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	RABL6	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	RAD50	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER 613078 Tags
Red Red List (low evidence)	RAD51	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MIRROR MOVEMENTS 2 614508 Tags
Red Red List (low evidence)	RALGDS	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	RANBP2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648 Tags
Red Red List (low evidence)	RAP1B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes RAP1B-related developmental disorder Tags
Red Red List (low evidence)	RASA1	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PARKES WEBER SYNDROME 608355 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354 Tags
Red Red List (low evidence)	RBFOX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes RBFOX1-related neurodevelopmental disorder Tags
Red Red List (low evidence)	RBM28	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079 Tags
Red Red List (low evidence)	RGS7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	RMI1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Bloom Syndrome like Disorder Tags
Red Red List (low evidence)	RNF113A	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes X-LINKED TRICHOTHIODYSTROPHY Tags Skewed X-inactivation
Red Red List (low evidence)	RNF125	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes RNF125-related intellectual disability and macrocephaly, OMIM:616260 Tags
Red Red List (low evidence)	RNF135	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 614192 Tags
Red Red List (low evidence)	RNF168	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes RIDDLE SYNDROME 611943 Tags
Red Red List (low evidence)	RNU12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes RNU12-related CDAGS syndrome Tags
Red Red List (low evidence)	RPL13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Spondyloepimetaphyseal Dysplasia with Severe Short Stature Tags
Red Red List (low evidence)	RRM1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes RRM1-related mitochondrial DNA depletion/deletions syndrome Tags
Red Red List (low evidence)	RUBCN	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY Tags
Red Red List (low evidence)	RYR2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability Tags
Red Red List (low evidence)	RYR3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Red Red List (low evidence)	SAMD9L	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Ataxia-Pancytopenia Syndrome Tags
Red Red List (low evidence)	SCAPER	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	SCNM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SCNM1-associated orofaciodigital syndrome Tags
Red Red List (low evidence)	SCRIB	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes 8Q24.3 DELETION-LIKE Tags
Red Red List (low evidence)	SEC23A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CRANIOLENTICULOSUTURAL DYSPLASIA 607812 Tags
Red Red List (low evidence)	SEC61A1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Tags
Red Red List (low evidence)	SH3BP2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Cherubism, OMIM:118400 Tags
Red Red List (low evidence)	SIN3B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SIN3B-related syndromic intellectual disability and autism spectrum disorder Tags
Red Red List (low evidence)	SIX6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550 Tags
Red Red List (low evidence)	SLC13A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SLC13A1-associated hypersulfaturia and hyposulfatemia Tags
Red Red List (low evidence)	SLC24A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 613830 Tags
Red Red List (low evidence)	SLC30A7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SLC30A7-associated Joubert syndrome Tags
Red Red List (low evidence)	SLC35B2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy Tags
Red Red List (low evidence)	SLC9A7	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Intellectual developmental disorder, X-linked 108, OMIM:301024 Tags
Red Red List (low evidence)	SLC9A9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SUSCEPTIBILITY TO AUTISM TYPE 16 613410 Tags
Red Red List (low evidence)	SLIRP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SLIRP-related mitochondrial encephalomyopathy Tags
Red Red List (low evidence)	SMAD2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CONGENITAL HEART DISEASE Tags
Red Red List (low evidence)	SMAD6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Non-syndromic craniosynostosis Tags
Red Red List (low evidence)	SNIP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA 614501 Tags
Red Red List (low evidence)	SNX3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 8 601349 Tags
Red Red List (low evidence)	SOBP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS 613671 Tags
Red Red List (low evidence)	SPRTN	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PROGEROID SYNDROME Tags
Red Red List (low evidence)	SPRY1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SPRY1-associated craniosynostosis with inner ear and renal anomalies Tags
Red Red List (low evidence)	SRGAP3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3 606525 Tags
Red Red List (low evidence)	SRPX2	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes BILATERAL PERISYLVIAN POLYMICROGYRIA 300388 ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643 Tags
Red Red List (low evidence)	SRSF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SRSF1-related developmental disorder (monoallelic) Tags
Red Red List (low evidence)	STAT2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Recessive gain of function causing increased interferon signalling Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission Tags
Red Red List (low evidence)	STIM1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes TUBULAR-AGGREGATE MYOPATHY 160565 Tags
Red Red List (low evidence)	STT3B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX 615597 Tags
Red Red List (low evidence)	SUMO1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CLEFT LIP +/- CLEFT PALATE 608874 Tags
Red Red List (low evidence)	SUPT16H	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SUPT16H-related neurodevelopmental disorder Tags
Red Red List (low evidence)	SYNCRIP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SYNCRIP-related developmental disorder (monoallelic) Tags
Red Red List (low evidence)	TAF2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	TAF4	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Literature Phenotypes TAF4-related neurodevelopmental disorder Developmental delay Tags
Red Red List (low evidence)	TANC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes TANC2-related neurodevelopmental and psychiatric disorders Tags
Red Red List (low evidence)	TDRD7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4 613887 Tags
Red Red List (low evidence)	TFRC	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Combined immunodeficiency Tags
Red Red List (low evidence)	THG1L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes THG1L-associated cerebellar ataxia, OMIM:618800 Tags
Red Red List (low evidence)	TKFC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes TKFC-related Cataracts and Multisystem Disease Tags
Red Red List (low evidence)	TLL1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ATRIAL SEPTAL DEFECT TYPE 6 613087 Tags
Red Red List (low evidence)	TM4SF20	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SPECIFIC LANGUAGE IMPAIRMENT 5 615432 Tags
Red Red List (low evidence)	TMEM114	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CONGENITAL AND JUVENILE CATARACT 611579 Tags
Red Red List (low evidence)	TMEM135	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	TNPO2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes TNPO2-related intellectual disability Tags
Red Red List (low evidence)	TPRKB	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GALLOWAY-MOWAT SYNDROME 5, 617731 Tags
Red Red List (low evidence)	TRAPPC10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes TRAPPC10-associated intellectual disability Tags
Red Red List (low evidence)	TRAPPC2L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331 Tags
Red Red List (low evidence)	TRMT1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	TRPC5	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes TRPC5-related neurodevelopmental disorder Tags
Red Red List (low evidence)	TSHZ1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AURAL ATRESIA, CONGENITAL 607842 Tags
Red Red List (low evidence)	TTC12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes TTC12-related Primary Ciliary Dyskinesia Tags
Red Red List (low evidence)	TUBA8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA 613180 Tags
Red Red List (low evidence)	UFSP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes UFSP2-associated developmental delay and epilepsy Tags
Red Red List (low evidence)	UHRF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome Tags
Red Red List (low evidence)	USP14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes DISTAL ARTHROGRYPOSIS Tags
Red Red List (low evidence)	UTP4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 205306 Tags
Red Red List (low evidence)	VAC14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Progressive neurological disorder and regression of developmental milestones Tags
Red Red List (low evidence)	VANGL1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NEURAL TUBE DEFECTS 182940 Tags
Red Red List (low evidence)	VCP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes VCP-related developmental disorder (monoallelic) Tags
Red Red List (low evidence)	VIP	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ASPERGER Tags
Red Red List (low evidence)	WDR4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes GALLOWAY-MOWAT SYNDROME 6, 618347 Tags
Red Red List (low evidence)	WDR81	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 610185 Tags
Red Red List (low evidence)	XPNPEP3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Red Red List (low evidence)	ZBTB16	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447 Tags
Red Red List (low evidence)	ZBTB40	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ZBTB7A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ZBTB7A-associated developmental disorder Tags
Red Red List (low evidence)	ZCCHC8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ZDHHC15	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION X-LINKED TYPE 91 300577 Tags
Red Red List (low evidence)	ZEB1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6 613270 POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY TYPE 3 609141 Tags
Red Red List (low evidence)	ZFHX3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ZFHX3-related developmental disorder (monoallelic) Tags
Red Red List (low evidence)	ZFPM2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes TETRALOGY OF FALLOT 187500 DIAPHRAGMATIC HERNIA 3 610187 46,XY GONADAL DYSGENESIS Tags
Red Red List (low evidence)	ZMYM6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	ZNF407	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ZNF407-related Neurodevelopmental Disorder Tags
Red Red List (low evidence)	ZNF526	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 Tags
Red Red List (low evidence)	ZNF599	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes NOT IN OMIM Tags
Red Red List (low evidence)	ZNF713	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTISM 209850 Tags
No list No list	AGTR2	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Removed Phenotypes X-LINKED MENTAL RETARDATION 88 290909 Tags curated_removed
No list No list	ALDOB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Removed Phenotypes HEREDITARY FRUCTOSE INTOLERANCE 229600 Tags curated_removed
No list No list	BPIFB6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Removed Phenotypes BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 614110 Tags curated_removed
No list No list	FBXO25	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Removed Phenotypes F-BOX ONLY PROTEIN 25 609098 Tags curated_removed
No list No list	FGF5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Hypertrichosis long eyelashes Tags
No list No list	GJB2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Removed Phenotypes VOHWINKEL SYNDROME 124500 ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME 602540 PALMOPLANTAR KERATODERMA WITH DEAFNESS 148350 DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A 220290 BART-PUMPHREY SYNDROME 149200 Tags curated_removed
No list No list	KPNA3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Phenotypes Infantile onset spastic paraplegia developmental delay Tags curated_removed
No list No list	LGI1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Removed Phenotypes AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES 600512 Tags curated_removed
No list No list	MAP4K4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes neurodevelopmental differences multiple congenital anomalies Tags
No list No list	MTMR14	2 reviews	Not set	Sources DD-Gene2Phenotype Expert Review Removed Phenotypes CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150 Tags curated_removed polygenic
No list No list	NLRP5	2 reviews	Not set	Sources DD-Gene2Phenotype Expert Review Removed Phenotypes Multilocus imprinting disorder Tags curated_removed
No list No list	NR5A1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Removed Phenotypes SPERMATOGENIC FAILURE 8 613957 46XY SEX REVERSAL 3 612965 Tags curated_removed
No list No list	RAP1GDS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Intellectual disability, developmental delay Tags curated_removed

Major version comments

2022-11-30 13:13 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this

2019-12-12 13:39 Rebecca Foulger (Genomics England curator) promoted panel to 2.0
The content of this panel (version 1.181) was signed off as part of the 'Paediatric disorders' super panel, under NHS Genomic Medicine Service governance on (12/December/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

2019-01-29 15:20 Rebecca Foulger (Genomics England curator) promoted panel to 1.0
Checked and promoted to Version 1. Note that this panel is based on DD-Gene2Phenotype Disease confidence ratings, and has not yet been through external PanelApp review.

DDG2P (Version 3.90)

16 reviewers

2350 Entities

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