Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R21/R412 Fetal anomalies with a likely genetic cause' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R21/R412 Fetal anomalies with a likely genetic cause'.

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).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

The Fetal anomalies panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group. More information about the PAGE group can be found at https://www.sanger.ac.uk/science/collaboration/prenatal-assessment-genomes-and-exomes-page and in the following publication:
Lord et al., 2019. Lancet. PMID:30712880: Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Genes with a DD-G2P/PAGE Disease confidence rating 'confirmed' were assigned an initial PanelApp rating of Green.
Genes with a DD-G2P/PAGE Disease confidence rating 'probable' were assigned an initial Amber PanelApp rating.
Genes with a DD-G2P/PAGE Disease confidence rating 'possible' were assigned a Red PanelApp rating.
Genes with a DD-G2P/PAGE Disease confidence rating 'Both DD and IF' were assigned an initial PanelApp rating of Amber.

The PAGE gene list underwent expert review and curation to form the Fetal anomalies panel. Genes were given a final Green rating only if the corresponding phenotype was likely to present in a fetus AND the evidence was considered sufficient. Review included a panel of experts comprising Lyn Chitty and Rhiannon Mellis (Great Ormond Street hospital), Richard Scott and Anna de Burca (Genomics England) and curators Rebecca Foulger and Ellen McDonagh (Genomics England).
Panel Activity

26 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Suzanne Drury (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Konstantinos Varvagiannis (Other)

    Group: Other
    Workplace: Other clinical service

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Alistair Pagnamenta (University of Oxford)

    Group: GeCIP domain
    Workplace: Research lab

  • Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Stephanie Allen (Consultant Clinical Scientist)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Lyn Chitty (Great Ormond Street NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rhiannon Mellis (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Michael Coleman (University of Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • Hannah Robinson (South West Genomic Laboratory Hub)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Julia Baptista (Faculty of Health, University of Plymouth)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Patrick Campbell (Leeds NHS Hospital Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

    Group: Other NHS organisation
    Workplace: Other diagnostic lab

1990 Entities

1990 reviewed, 1279 green

List Entity Reviews Mode of inheritance Details
1990 Entitiess
Green Green List (high evidence)
AAAS
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
  • Triple-A syndrome, MONDO:0009279
Tags
Green Green List (high evidence)
AARS2
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889
  • Combined oxidative phosphorylation deficiency 8, OMIM:614096
  • fetal hydrops
  • cardiomyopathy
  • polyhydramnios
  • pulmonary effusion
Tags
Green Green List (high evidence)
ABCA12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 242500
Tags
Green Green List (high evidence)
ABCC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
Tags
Green Green List (high evidence)
ABCC9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Tags
Green Green List (high evidence)
ABHD5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHANARIN-DORFMAN SYNDROME
Tags
Green Green List (high evidence)
ABL1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital heart defects and skeletal malformations, OMIM:617602
  • Congenital heart defects and skeletal malformations syndrome, MONDO:0060532
Tags
Green Green List (high evidence)
ACAD9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Tags
Green Green List (high evidence)
ACADVL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Tags
Green Green List (high evidence)
ACAN
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE
Tags
Green Green List (high evidence)
ACE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Renal tubular dysgenesis 267430
Tags
Green Green List (high evidence)
ACOX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADRENOLEUKODYSTROPHY PSEUDONEONATAL
  • Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Tags
Green Green List (high evidence)
ACP5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
Tags
Green Green List (high evidence)
ACTA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Tags
Green Green List (high evidence)
ACTA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AORTIC ANEURYSM, FAMILIAL THORACIC 6
  • MOYAMOYA DISEASE 5
Tags
Green Green List (high evidence)
ACTB
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARAITSER-WINTER SYNDROME
  • ACTB Haploinsufficiency syndtome
Tags
Green Green List (high evidence)
ACTC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Atrial septal defect 5 612794
Tags
Green Green List (high evidence)
ACTG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARAITSER-WINTER SYNDROME
Tags
Green Green List (high evidence)
ACTG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Visceral myopathy 155310
  • Fetal Megacystis
Tags
Green Green List (high evidence)
ACVR2B
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy
  • Dextrocardia
  • Double outlet right ventricle
  • Transposition of the great arteries
  • Gut malrotation
  • polysplenia
  • right-sided spleen
  • asplenia
Tags
Green Green List (high evidence)
ACY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AMINOACYLASE-1 DEFICIENCY
Tags
Green Green List (high evidence)
ADAMTS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Weill-Marchesani syndrome 1, recessive 277600
Tags
Green Green List (high evidence)
ADAMTS17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Weill-Marchesani 4 syndrome, recessive, 613195
Tags
Green Green List (high evidence)
ADAMTS3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154
  • Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564
Tags
Green Green List (high evidence)
ADAMTSL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Geleophysic dysplasia 1 231050
Tags
Green Green List (high evidence)
ADAR
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Aicardi-Goutieres syndrome 6, OMIM:615010
  • Dyschromatosis symmetrica hereditaria, OMIM:127400
Tags
Green Green List (high evidence)
ADGRG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POLYMICROGYRIA
Tags
Green Green List (high evidence)
ADGRG6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LETHAL CONGENITAL CONTRACTURE SYNDROME 9
Tags
Green Green List (high evidence)
ADNP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28
Tags
Green Green List (high evidence)
ADSL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADENYLOSUCCINASE DEFICIENCY
Tags
Green Green List (high evidence)
AFF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORNELIA DE LANGE-LIKE SYNDROME
Tags
Green Green List (high evidence)
AGK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SENGERS SYNDROME
Tags
Green Green List (high evidence)
AGL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLYCOGEN STORAGE DISEASE TYPE III
Tags
Green Green List (high evidence)
AGPS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3
Tags
Green Green List (high evidence)
AGTR1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal tubular dysgenesis, OMIM:267430
Tags
Green Green List (high evidence)
AHCY
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • S-adenosylhomocysteine hydrolase deficiency
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Tags
Green Green List (high evidence)
AHDC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • XIA-GIBBS SYNDROME
Tags
Green Green List (high evidence)
AHI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME
Tags
Green Green List (high evidence)
AKT1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROTEUS SYNDROME
Tags
  • mosaicism
Green Green List (high evidence)
AKT2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Tags
Green Green List (high evidence)
AKT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
  • mosaicism
Green Green List (high evidence)
ALDH18A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CUTIS LAXA, AUTOSOMAL DOMINANT 3
  • SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
  • MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES
Tags
Green Green List (high evidence)
ALDH1A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANOPHTHALMIA/MICROPHTHALMIA
Tags
Green Green List (high evidence)
ALDH3A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SJOEGREN-LARSSON SYNDROME
Tags
Green Green List (high evidence)
ALDH7A1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PYRIDOXINE-DEPENDENT EPILEPSY
Tags
Green Green List (high evidence)
ALDOA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLYCOGEN STORAGE DISEASE XII
Tags
Green Green List (high evidence)
ALG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALG1-CDG
Tags
Green Green List (high evidence)
ALG12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G
Tags
Green Green List (high evidence)
ALG2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALG2-CDG
Tags
Green Green List (high evidence)
ALG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALG3-CDG
Tags
Green Green List (high evidence)
ALG6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALG6-CDG
Tags
Green Green List (high evidence)
ALG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALG8-CDG
Tags
Green Green List (high evidence)
ALG9
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Gillessen-Kaesbach-Nishimura syndrome, 263210
  • AR lethal skeletal dysplasia
  • ALG9-CDG
  • Congenital disorder of glycosylation, type Il, 608776
  • NIHF
  • hydops fetalis
Tags
Green Green List (high evidence)
ALMS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALSTROM SYNDROME
Tags
Green Green List (high evidence)
ALOX12B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100
Tags
Green Green List (high evidence)
ALOXE3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, 606545
Tags
Green Green List (high evidence)
ALPL
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOPHOSPHATASIA
Tags
Green Green List (high evidence)
ALX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRONTONASAL DYSPLASIA TYPE 3
Tags
Green Green List (high evidence)
ALX3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRONTONASAL DYSPLASIA TYPE 1
Tags
Green Green List (high evidence)
ALX4
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRONTONASAL DYSPLASIA 2
  • PARIETAL FORAMINA 2
Tags
Green Green List (high evidence)
AMACR
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency, 614307
Tags
Green Green List (high evidence)
AMER1
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
Tags
Green Green List (high evidence)
AMMECR1
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
Tags
Green Green List (high evidence)
AMPD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA
Tags
Green Green List (high evidence)
AMT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLYCINE ENCEPHALOPATHY
Tags
Green Green List (high evidence)
ANAPC1
1 review
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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHONDROCALCINOSIS 2
  • CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE
Tags
Green Green List (high evidence)
ANKRD11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KBG SYNDROME
Tags
Green Green List (high evidence)
ANKS6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nephronophthisis 16, 615382
Tags
Green Green List (high evidence)
ANOS1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Tags
Green Green List (high evidence)
ANTXR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GAPO syndrome, OMIM:230740
Tags
Green Green List (high evidence)
ANTXR2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Hyaline fibromatosis syndrome 228600
Tags
Green Green List (high evidence)
AP1S2
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pettigrew syndrome, OMIM:304340
Tags
Green Green List (high evidence)
AP4E1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, OMIM:613744
  • Hereditary spastic paraplegia 51, MONDO:0013401
Tags
Green Green List (high evidence)
AR
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANDROGEN INSENSITIVITY SYNDROME
Tags
Green Green List (high evidence)
ARCN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephalic dwarfism
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Tags
Green Green List (high evidence)
ARFGEF2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Periventricular heterotopia with microcephaly, OMIM:608097
Tags
Green Green List (high evidence)
ARHGAP29
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • cleft lip with or without cleft palate
  • Cleft palate
Tags
  • gene-checked
Green Green List (high evidence)
ARHGAP31
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADAMS-OLIVER SYNDROME 1
Tags
Green Green List (high evidence)
ARID1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COFFIN-SIRIS SYNDROME
Tags
Green Green List (high evidence)
ARID1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
  • COFFIN SIRIS SYNDROME
Tags
Green Green List (high evidence)
ARL13B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Joubert syndrome 8, 612291
Tags
Green Green List (high evidence)
ARL6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 3
  • RETINITIS PIGMENTOSA TYPE 55
Tags
Green Green List (high evidence)
ARMC4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 23
Tags
  • new-gene-name
Green Green List (high evidence)
ARMC9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Joubert syndrome 30
Tags
Green Green List (high evidence)
ARSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARYLSULFATASE A DEFICIENCY
Tags
Green Green List (high evidence)
ARSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 6
Tags
Green Green List (high evidence)
ARSE
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Tags
  • new-gene-name
Green Green List (high evidence)
ARX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PARTINGTON SYNDROME
  • MENTAL RETARDATION X-LINKED ARX-RELATED
  • LISSENCEPHALY X-LINKED TYPE 2
  • AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1
Tags
Green Green List (high evidence)
ASAH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY
  • FARBER LIPOGRANULOMATOSIS
Tags
Green Green List (high evidence)
ASCC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • spinal muscular atrophy
  • arthrogryposis
  • fetal akinesia
  • hypotonia
  • contractures
Tags
Green Green List (high evidence)
ASNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Asparagine synthetase deficiency 615574
Tags
Green Green List (high evidence)
ASPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CANAVAN DISEASE
Tags
Green Green List (high evidence)
ASPM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephaly 5, primary, autosomal recessive, OMIM:608716
Tags
Green Green List (high evidence)
ASS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CITRULLINEMIA TYPE I
Tags
Green Green List (high evidence)
ASXL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BOHRING-OPITZ SYNDROME
Tags
Green Green List (high evidence)
ATAD3A
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
  • Harel-Yoon syndrome, OMIM:617183
  • Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Tags
Green Green List (high evidence)
ATIC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICA-RIBOSURIA
Tags
Green Green List (high evidence)
ATP1A2
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • hydrops fetalis
  • microcephaly
  • arthrogryposis
  • extensive cortical malformations
Tags
Green Green List (high evidence)
ATP5O
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Tags
  • new-gene-name
Green Green List (high evidence)
ATP6V0A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Wrinkly skin syndrome 219200
  • Cutis laxa, autosomal recessive, type IIA
Tags
Green Green List (high evidence)
ATP7A
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENKES DISEASE
  • OCCIPITAL HORN SYNDROME
  • SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3
Tags
Green Green List (high evidence)
ATR
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Seckel syndrome 1, OMIM:210600
  • Seckel syndrome 1, MONDO:0008869
Tags
Green Green List (high evidence)
ATRX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1
  • ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE
Tags
Green Green List (high evidence)
B3GALNT2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071
Tags
Green Green List (high evidence)
B3GALT6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1
  • EHLERS-DANLOS SYNDROME
Tags
Green Green List (high evidence)
B3GAT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
Tags
Green Green List (high evidence)
B3GLCT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • PETERS-PLUS SYNDROME 261540
Tags
Green Green List (high evidence)
B4GALT7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EHLERS-DANLOS SYNDROME PROGEROID TYPE
Tags
Green Green List (high evidence)
B4GAT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
Tags
Green Green List (high evidence)
B9D2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green Green List (high evidence)
BBS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 10
Tags
Green Green List (high evidence)
BBS12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 12
Tags
Green Green List (high evidence)
BBS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 2
Tags
Green Green List (high evidence)
BBS4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 4
Tags
Green Green List (high evidence)
BBS5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 5
Tags
Green Green List (high evidence)
BBS7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 7
Tags
Green Green List (high evidence)
BBS9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 9
Tags
Green Green List (high evidence)
BCAP31
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Tags
Green Green List (high evidence)
BCL11A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
BCOR
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA SYNDROMIC TYPE 2
Tags
Green Green List (high evidence)
BCS1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GRACILE SYNDROME
  • GRACILE syndrome, 603358
Tags
Green Green List (high evidence)
BFSP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED
Tags
Green Green List (high evidence)
BGN
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe syndromic form of thoracic aortic aneurysm & dissection
  • X-Linked Spondyloepimetaphyseal Dysplasia
  • Meester-Loeys syndrome, 300989
  • Spondyloepimetaphyseal dysplasia, X-linked, 300106
Tags
Green Green List (high evidence)
BHLHA9
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ?Camptosynpolydactyly, complex, OMIM:607539
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432
  • SPLIT HAND AND FOOT MALFORMATION
  • MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
Tags
Green Green List (high evidence)
BICD2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
  • arthrogryposis multiplex congenita (AMC)
  • reduced fetal movements
  • hydrops fetalis
  • Pterygium
Tags
Green Green List (high evidence)
BIN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CENTRONUCLEAR MYOPATHY 2
Tags
Green Green List (high evidence)
BLM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bloom syndrome, OMIM:210900
Tags
Green Green List (high evidence)
BMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Osteogenesis imperfecta type XIII 614856
Tags
Green Green List (high evidence)
BMP2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
  • Brachydactyly, type A2 112600
Tags
  • watchlist
Green Green List (high evidence)
BMP4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA, SYNDROMIC 6
  • OROFACIAL CLEFT 11
Tags
Green Green List (high evidence)
BMPER
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DIAPHANOSPONDYLODYSOSTOSIS
Tags
Green Green List (high evidence)
BMPR1B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Acromesomelic dysplasia, Demirhan type, OMIM:609441
Tags
Green Green List (high evidence)
BNC2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lower urinary tract obstruction, congenital, 618612
Tags
Green Green List (high evidence)
BRAF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME
  • LEOPARD SYNDROME TYPE 3
  • NOONAN SYNDROME TYPE 7
Tags
Green Green List (high evidence)
BRAT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
Tags
Green Green List (high evidence)
BRCA2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
Tags
Green Green List (high evidence)
BRIP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Fanconi anemia, complementation group J, OMIM:609054
Tags
Green Green List (high evidence)
BRPF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRPF1 associated syndromic intellectual disability with ptosis
Tags
Green Green List (high evidence)
BSND
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARTTER SYNDROME TYPE 4A
Tags
Green Green List (high evidence)
BTD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BIOTINIDASE DEFICIENCY
Tags
Green Green List (high evidence)
BUB1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Tags
Green Green List (high evidence)
C11orf70
1 review
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)
C12orf65
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
Tags
  • new-gene-name
Green Green List (high evidence)
C19orf70
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 37, OMIM:618329
Tags
  • new-gene-name
Green Green List (high evidence)
C1QBP
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Myopathy
  • Cardiomyopathy
  • Combined oxidative phosphorylation deficiency 33, OMIM:617713
  • Ologohydramnios
  • Metabolic acidosis
Tags
Green Green List (high evidence)
C21orf2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Axial Spondylometaphyseal Dysplasia
Tags
  • new-gene-name
Green Green List (high evidence)
C21orf59
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ciliary dyskinesia, primary, 26, OMIM:615500
  • Primary ciliary dyskinesia 26, MONDO:0014211
Tags
  • new-gene-name
Green Green List (high evidence)
C2CD3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Orofaciodigital syndrome XIV, OMIM:615948
  • Orofaciodigital syndrome type 14, MONDO:0014413
Tags
Green Green List (high evidence)
C5orf42
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME
Tags
  • new-gene-name
Green Green List (high evidence)
C8orf37
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONE-ROD DYSTROPHY 16
Tags
  • new-gene-name
Green Green List (high evidence)
CA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3
Tags
Green Green List (high evidence)
CA8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3
Tags
Green Green List (high evidence)
CACNA1C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • Long QT syndrome 8, OMIM:618447
  • long qt syndrome 8, MONDO:0032756
  • Brugada syndrome 3, OMIM:611875
  • Brugada syndrome 3, MONDO:0012742
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CACNA1E
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias
  • Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Tags
  • watchlist
Green Green List (high evidence)
CACNA1G
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
Tags
Green Green List (high evidence)
CANT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Epiphyseal dysplasia, multiple, 7, 617719
  • Desbuquois dysplasia 1, 251450
Tags
Green Green List (high evidence)
CASK
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MRX WITH/WITHOUT NYSTAGMUS
  • MENTAL RETARDATION X-LINKED CASK-RELATED
  • FG SYNDROME TYPE 4
Tags
Green Green List (high evidence)
CASR
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypocalcemia, autosomal dominant, 601198
  • Hypocalciuric hypercalcemia, type I, 145980
  • Hyperparathyroidism, neonatal, 239200
  • Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
Tags
Green Green List (high evidence)
CBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Tags
Green Green List (high evidence)
CC2D2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME 9
  • COACH SYNDROME
  • MECKEL SYNDROME, TYPE 6
Tags
Green Green List (high evidence)
CCBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Tags
Green Green List (high evidence)
CCDC103
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
CCDC114
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC151
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ciliary dyskinesia, primary, 30, OMIM:616037
  • Primary ciliary dyskinesia 30, MONDO:0014465
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC39
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 14
Tags
Green Green List (high evidence)
CCDC40
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 15
Tags
Green Green List (high evidence)
CCDC8
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-M syndrome 3, OMIM:614205
  • 3M syndrome 3, MONDO:0013627
Tags
Green Green List (high evidence)
CCDC88C
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hydrocephalus, congenital, 1, OMIM:236600
  • Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360
Tags
Green Green List (high evidence)
CCND2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
Tags
Green Green List (high evidence)
CDAN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
  • Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Tags
Green Green List (high evidence)
CDC45
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Meier-Gorlin Syndrome and Craniosynostosis
Tags
Green Green List (high evidence)
CDC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEIER-GORLIN SYNDROME 5
Tags
Green Green List (high evidence)
CDH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Blepharo-cheiro-dontic syndrome
Tags
Green Green List (high evidence)
CDH3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EEM SYNDROME
  • HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Tags
Green Green List (high evidence)
CDK13
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Tags
Green Green List (high evidence)
CDK5RAP2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, OMIM:604804
  • Microcephaly 3, primary, autosomal recessive, MONDO:0011488
Tags
Green Green List (high evidence)
CDK8
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with hypotonia and behavioral abnormalities, OMIM:618748
Tags
Green Green List (high evidence)
CDKL5
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2
Tags
Green Green List (high evidence)
CDKN1C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BECKWITH-WIEDEMANN SYNDROME
  • IMAGe Syndrome
Tags
Green Green List (high evidence)
CDON
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOLOPROSENCEPHALY 11
Tags
Green Green List (high evidence)
CDT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEIER-GORLIN SYNDROME 4
Tags
Green Green List (high evidence)
CDX2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Multiple congenital anomalies
Tags
  • gene-checked
Green Green List (high evidence)
CELSR1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lymphatic malformation 9, OMIM:619319
Tags
Green Green List (high evidence)
CENPF
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Stromme syndrome, 243605
Tags
Green Green List (high evidence)
CENPJ
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 6
  • SECKEL SYNDROME TYPE 4
Tags
Green Green List (high evidence)
CEP104
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Joubert syndrome 25, 616781
Tags
Green Green List (high evidence)
CEP120
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 31
  • Short-rib thoracic dysplasia 13 with or without polydactyly
Tags
Green Green List (high evidence)
CEP135
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephaly 8, primary, autosomal recessive, OMIM:614673
  • Microcephaly 8, primary, autosomal recessive, MONDO:0013849
Tags
Green Green List (high evidence)
CEP152
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 4
  • SECKEL SYNDROME TYPE 5
Tags
Green Green List (high evidence)
CEP164
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Nephronophthisis 15 614845
Tags
Green Green List (high evidence)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME TYPE 5
  • LEBER CONGENITAL AMAUROSIS TYPE 10
  • SENIOR-LOKEN SYNDROME TYPE 6
  • BARDET-BIEDL SYNDROME TYPE 14
  • MECKEL SYNDROME TYPE 4
Tags
Green Green List (high evidence)
CEP41
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME 15
Tags
Green Green List (high evidence)
CEP55
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500
  • lethal CEP55-related syndromes
Tags
Green Green List (high evidence)
CEP57
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Tags
Green Green List (high evidence)
CEP63
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ?Seckel syndrome 6, OMIM:614728
  • Seckel syndrome 6, MONDO:0013871
Tags
Green Green List (high evidence)
CEP83
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CERS3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, 615023
Tags
Green Green List (high evidence)
CFAP53
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive
  • Dextrocardia
  • Transposition of the great arteries
  • gut malrotation
  • midline liver
  • inverted spleen
Tags
Green Green List (high evidence)
CFC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS
  • Heterotaxy, visceral, 2, autosomal, 605376
Tags
Green Green List (high evidence)
CFL2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, OMIM:610687
  • Nemaline myopathy 7, MONDO:0012538
Tags
Green Green List (high evidence)
CFTR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Cystic fibrosis 219700
Tags
Green Green List (high evidence)
CHAMP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
Tags
Green Green List (high evidence)
CHAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Myasthenic syndrome, congenital, 6, presynaptic 254210
Tags
Green Green List (high evidence)
CHD4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Sifrim-Hitz-Weiss syndrome OMIM:617159
  • Sifrim-Hitz-Weiss syndrome MONDO:0014946
Tags
Green Green List (high evidence)
CHD7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KALLMANN SYNDROME TYPE 5
  • IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
  • CHARGE SYNDROME
Tags
Green Green List (high evidence)
CHKB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Muscular dystrophy, congenital, megaconial type 602541
Tags
Green Green List (high evidence)
CHMP1A
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pontocerebellar hypoplasia, type 8, OMIM:614961
  • Pontocerebellar hypoplasia type 8, MONDO:0013990
Tags
Green Green List (high evidence)
CHRNA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE
  • Multiple pterygium syndrome, lethal type, 253290
Tags
Green Green List (high evidence)
CHRNA3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Tags
Green Green List (high evidence)
CHRNB1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Tags
Green Green List (high evidence)
CHRND
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Several associated, probably most relevant is lethal multiple pterygium syndrome 253290
Tags
Green Green List (high evidence)
CHRNE
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809
  • Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Tags
Green Green List (high evidence)
CHRNG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT
Tags
Green Green List (high evidence)
CHST14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE
Tags
Green Green List (high evidence)
CHST3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Tags
Green Green List (high evidence)
CHSY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
Tags
Green Green List (high evidence)
CHUK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cocoon syndrome, OMIM:613630
  • Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339
Tags
Green Green List (high evidence)
CIT
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephaly 17, primary, autosomal recessive, OMIM:617090
  • Microcephaly 17, primary, autosomal recessive, MONDO:0014908
Tags
Green Green List (high evidence)
CKAP2L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Tags
Green Green List (high evidence)
CLCN4
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Raynaud-Claes syndrome, OMIM:300114
Tags
Green Green List (high evidence)
CLCN7
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CLCN7-RELATED OSTEOPETROSIS
  • Osteopetrosis, autosomal recessive 4, OMIM:611490
  • Osteopetrosis, autosomal dominant 2, OMIM:166600
  • Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541
Tags
Green Green List (high evidence)
CLP1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pontocerebellar hypoplasia, type 10, OMIM:615803
  • Pontocerebellar hypoplasia type 10, MONDO:0014349
Tags
  • founder-effect
Green Green List (high evidence)
CLPB
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Tags
Green Green List (high evidence)
CNOT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Tags
Green Green List (high evidence)
CNOT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CNOT3 syndrome
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Tags
Green Green List (high evidence)
CNTNAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LETHAL CONGENITAL CONTRACTURE SYNDROME 7
Tags
Green Green List (high evidence)
CNTNAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME
Tags
Green Green List (high evidence)
COASY
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Tags
Green Green List (high evidence)
COG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COG1-CDG
Tags
Green Green List (high evidence)
COG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COG4-CDG
  • Saul-Wilson syndrome, 618150
Tags
Green Green List (high evidence)
COG5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital disorder of glycosylation, type III, OMIM:613612
  • COG5-CDG, MONDO:0013325
Tags
Green Green List (high evidence)
COG6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIl, 614576
  • Shaheen syndrome, 615328
Tags
Green Green List (high evidence)
COG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COG7-CDG
Tags
Green Green List (high evidence)
COG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COG8-CDG
Tags
Green Green List (high evidence)
COL10A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA
Tags
Green Green List (high evidence)
COL11A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FIBROCHONDROGENESIS
  • STICKLER SYNDROME, TYPE II
Tags
Green Green List (high evidence)
COL11A2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WEISSENBACHER-ZWEYMUELLER SYNDROME
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 53
  • AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 13
  • STICKLER SYNDROME TYPE 3
Tags
Green Green List (high evidence)
COL12A1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bethlem myopathy 2, 616471
  • ?Ullrich congenital muscular dystrophy 2, 616470
Tags
Green Green List (high evidence)
COL13A1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Myasthenic syndrome, congenital, 19, OMIM:616720
  • Congenital myasthenic syndrome 19, MONDO:0014745
Tags
Green Green List (high evidence)
COL18A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Knobloch syndrome, type 1, OMIM:267750
Tags
Green Green List (high evidence)
COL1A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA
  • EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED
  • OSTEOGENESIS IMPERFECTA TYPE III
  • EHLERS-DANLOS SYNDROME TYPE VIIA
  • OSTEOGENESIS IMPERFECTA TYPE IIA
  • CAFFEY DISEASE
  • OSTEOGENESIS IMPERFECTA TYPE I
Tags
Green Green List (high evidence)
COL1A2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE Additional Gene List
Phenotypes
  • Ehlers-Danlos syndrome
  • Osteogenesis imperfecta
Tags
Green Green List (high evidence)
COL2A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE
  • SPONDYLOPERIPHERAL DYSPLASIA
  • STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR
  • PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE
  • ACHONDROGENESIS TYPE 2
  • RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT
  • SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
  • KNIEST DYSPLASIA
Tags
Green Green List (high evidence)
COL3A1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • HP:0002126
  • HP:0001883
  • HP:0006496
Tags
Green Green List (high evidence)
COL4A1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PORENCEPHALY 1
Tags
Green Green List (high evidence)
COL4A2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PORENCEPHALY 2
Tags
Green Green List (high evidence)
COL4A3BP
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
  • new-gene-name
Green Green List (high evidence)
COL6A1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bethlem myopathy 1, OMIM:158810
  • Ullrich congenital muscular dystrophy 1, OMIM:254090
Tags
Green Green List (high evidence)
COL6A2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Ullrich congenital muscular dystrophy 1 254090
  • Bethlem myopathy 1 158810
Tags
Green Green List (high evidence)
COL6A3
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bethlem myopathy, OMIM:158810
  • Ullrich congenital muscular dystrophy, OMIM:254090
Tags
Green Green List (high evidence)
COL9A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • STICKLER SYNDROME TYPE 4
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6
Tags
Green Green List (high evidence)
COL9A2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2
  • STICKLER SYNDROME, TYPE V
Tags
Green Green List (high evidence)
COLEC10
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3MC syndrome 3, OMIM:248340
  • 3MC syndrome 3, MONDO:0009554
Tags
Green Green List (high evidence)
COLEC11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3MC SYNDROME 2
Tags
Green Green List (high evidence)
COLQ
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 5, 603034
Tags
Green Green List (high evidence)
COQ4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COENZYME Q10 DEFICIENCY, PRIMARY, 7
Tags
Green Green List (high evidence)
COQ7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733
Tags
Green Green List (high evidence)
COQ9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COENZYME Q10 DEFICIENCY
Tags
Green Green List (high evidence)
COX7B
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Tags
Green Green List (high evidence)
CPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • CPT II deficiency, infantile, OMIM:600649
  • CPT II deficiency, lethal neonatal, OMIM:608836
Tags
Green Green List (high evidence)
CRADD
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499
Tags
Green Green List (high evidence)
CRB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Tags
Green Green List (high evidence)
CREB3L1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XVI, 616229
Tags
Green Green List (high evidence)
CREBBP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CREBBP intellectual disability without typical RTS features
  • RUBINSTEIN-TAYBI SYNDROME TYPE 1
Tags
Green Green List (high evidence)
CRIPT
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short stature with microcephaly and distinctive facies, 615789
Tags
Green Green List (high evidence)
CRLF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Cold-induced sweating syndrome 1 272430
Tags
Green Green List (high evidence)
CRTAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Osteogenesis imperfecta, type VII 610682
Tags
Green Green List (high evidence)
CRYAA
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
  • CATARACT, NUCLEAR
Tags
Green Green List (high evidence)
CRYBA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES
Tags
Green Green List (high evidence)
CRYBA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT ZONULAR TYPE 2
Tags
Green Green List (high evidence)
CRYBB1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT 17, MULTIPLE TYPES
  • CATARACT 17, MULTIPLE TYPES, MONOALLELIC
  • CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
Tags
Green Green List (high evidence)
CRYBB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT, COPPOCK-LIKE
  • CATARACT, CONGENITAL, CERULEAN TYPE, 2
Tags
Green Green List (high evidence)
CRYBB3
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cataract 22, OMIM:609741
Tags
Green Green List (high evidence)
CRYGC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT AUTOSOMAL DOMINANT
Tags
Green Green List (high evidence)
CRYGD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT AUTOSOMAL DOMINANT
  • CATARACT CONGENITAL CERULEAN TYPE 3
Tags
Green Green List (high evidence)
CSF1R
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476
  • BANDDOS
Tags
Green Green List (high evidence)
CSNK2A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CSNK2A1 syndrome
  • Okur-Chung neurodevelopmental syndrome, 617062
Tags
Green Green List (high evidence)
CSPP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Tags
Green Green List (high evidence)
CTC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
Tags
Green Green List (high evidence)
CTCF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CTNNB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Tags
Green Green List (high evidence)
CTNND1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Blepharo-cheiro-dontic syndrome
Tags
Green Green List (high evidence)
CTSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GALACTOSIALIDOSIS
Tags
Green Green List (high evidence)
CTSD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 10
Tags
Green Green List (high evidence)
CTSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PYCNODYSOSTOSIS
Tags
Green Green List (high evidence)
CTU2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
Tags
Green Green List (high evidence)
CUL4B
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE
Tags
Green Green List (high evidence)
CUL7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-M SYNDROME 1
Tags
Green Green List (high evidence)
CWC27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Retinitis pigmentosa, skeletal anomalies and intellectual disability
Tags
Green Green List (high evidence)
CYP11A1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE Additional Gene List
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Tags
Green Green List (high evidence)
CYP11B1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE Additional Gene List
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010
Tags
Green Green List (high evidence)
CYP17A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency
  • 17,20-lyase deficiency, isolated
Tags
Green Green List (high evidence)
CYP1B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Tags
Green Green List (high evidence)
CYP21A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Tags
Green Green List (high evidence)
CYP26B1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Tags
Green Green List (high evidence)
CYP2U1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY SPASTIC PARAPLEGIA
Tags
Green Green List (high evidence)
CYP4F22
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, 604777
Tags
Green Green List (high evidence)
DAG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Tags
Green Green List (high evidence)
DARS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Tags
  • new-gene-name
Green Green List (high evidence)
DARS2
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Tags
Green Green List (high evidence)
DCHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PERIVENTRICULAR NEURONAL HETEROTOPIA
Tags
Green Green List (high evidence)
DCX
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Lissencephaly, X-linked, OMIM:300067
  • Subcortical laminal heterotopia, X-linked, OMIM:300067
Tags
Green Green List (high evidence)
DDR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
Tags
Green Green List (high evidence)
DDX11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WARSAW BREAKAGE SYNDROME
Tags
Green Green List (high evidence)
DDX3X
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
Tags
Green Green List (high evidence)
DDX59
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Orofaciodigital syndrome V, OMIM:174300
  • Orofaciodigital syndrome V, MONDO:0008267
Tags
Green Green List (high evidence)
DENND5A
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental and epileptic encephalopathy 49, OMIM:617281
  • Developmental and epileptic encephalopathy, 49, MONDO:0015002
Tags
Green Green List (high evidence)
DHCR24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DESMOSTEROLOSIS
Tags
Green Green List (high evidence)
DHCR7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SMITH-LEMLI-OPITZ SYNDROME
Tags
Green Green List (high evidence)
DHFR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Tags
Green Green List (high evidence)
DHODH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POSTAXIAL ACROFACIAL DYSOSTOSIS
Tags
Green Green List (high evidence)
DIAPH1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Seizures, cortical blindness, microcephaly syndrome, 616632
Tags
Green Green List (high evidence)
DIS3L2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PERLMAN SYNDROME
Tags
Green Green List (high evidence)
DISP1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Holoprosencephaly
Tags
  • gene-checked
  • watchlist
Green Green List (high evidence)
DKC1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DYSKERATOSIS CONGENITA, X-LINKED
  • DKC1-RELATED DYSKERATOSIS CONGENITA
Tags
Green Green List (high evidence)
DLL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOCOSTAL DYSOSTOSIS TYPE 1
Tags
Green Green List (high evidence)
DLL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADAMS-OLIVER SYNDROME 6
Tags
Green Green List (high evidence)
DLX5
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
  • Split-hand/foot malformation 1, 183600
Tags
Green Green List (high evidence)
DNA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Seckel syndrome 8, OMIM:615807
Tags
Green Green List (high evidence)
DNAAF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Primary ciliary dyskinesia 613193
Tags
Green Green List (high evidence)
DNAAF2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 10, 612518
Tags
Green Green List (high evidence)
DNAAF3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINEASIA
  • Ciliary dyskinesia, primary, 2, MIM:606763
Tags
Green Green List (high evidence)
DNAAF4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSPLASIA
Tags
Green Green List (high evidence)
DNAAF5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ciliary dyskinesia, primary, 18, OMIM:614874
  • Primary ciliary dyskinesia 18, MONDO:0013940
Tags
Green Green List (high evidence)
DNAH11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Primary ciliary dyskinesia 611884
Tags
Green Green List (high evidence)
DNAH5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 3
  • Primary ciliary dyskinesia 608644
  • heterotaxy
Tags
  • watchlist
Green Green List (high evidence)
DNAH9
1 review
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)
DNAI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Primary ciliary dyskinesia 244400
Tags
Green Green List (high evidence)
DNAI2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus,612444
Tags
Green Green List (high evidence)
DNAJB11
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, 618061
Tags
Green Green List (high evidence)
DNAL1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 16, 614017
Tags
Green Green List (high evidence)
DNM1L
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
Tags
Green Green List (high evidence)
DNM2
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lethal congenital contracture syndrome 5, 615368
Tags
Green Green List (high evidence)
DNMT3A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
DNMT3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
Tags
Green Green List (high evidence)
DOCK6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADAMS-OLIVER SYNDROME 2
Tags
Green Green List (high evidence)
DOK7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Fetal akinesia deformation sequence 3, 618389
  • Myasthenic syndrome, congenital, 10, 254300
Tags
Green Green List (high evidence)
DOLK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION
Tags
Green Green List (high evidence)
DONSON
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Microcephaly-micromelia syndrome, 251230
  • Microcephaly, short stature, and limb abnormalities, 617604
Tags
Green Green List (high evidence)
DPAGT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
  • DPAGT1-CDG
Tags
Green Green List (high evidence)
DPH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901
Tags
Green Green List (high evidence)
DPM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION
Tags
Green Green List (high evidence)
DPM2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iu, 615042
Tags
Green Green List (high evidence)
DPM3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Tags
Green Green List (high evidence)
DSP
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Epidermolysis bullosa, lethal acantholytic, OMIM:609638 (AR)
  • Skin fragility-woolly hair syndrome, OMIM:607655 (AR)
  • Keratosis palmoplantaris striata II, OMIM:612908 (AD)
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
  • Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Tags
Green Green List (high evidence)
DSTYK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
Tags
Green Green List (high evidence)
DVL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Tags
Green Green List (high evidence)
DVL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Tags
Green Green List (high evidence)
DYM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SMITH-MCCORT DYSPLASIA
  • DYGGVE-MELCHIOR-CLAUSEN SYNDROME
Tags
Green Green List (high evidence)
DYNC1H1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE ID WITH NEURONAL MIGRATION DISORDER
  • SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD
Tags
Green Green List (high evidence)
DYNC2H1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHORT RIB-POLYDACTYLY SYNDROME TYPE 3
  • ASPHYXIATING THORACIC DYSTROPHY TYPE 3
Tags
Green Green List (high evidence)
DYNC2LI1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 15 with polydactyly, 617088
Tags
Green Green List (high evidence)
DYRK1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Tags
Green Green List (high evidence)
DZIP1L
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 5, 617610
Tags
Green Green List (high evidence)
EARS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, OMIM:614924
Tags
Green Green List (high evidence)
EBF3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
  • hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Tags
Green Green List (high evidence)
EBP
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
Tags
Green Green List (high evidence)
ECEL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DISTAL ARTHROGRYPOSIS TYPE 5D
Tags
Green Green List (high evidence)
ECHS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Tags
Green Green List (high evidence)
EDNRA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Tags
Green Green List (high evidence)
EDNRB
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ABCD SYNDROME
Tags
Green Green List (high evidence)
EED
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cohen-Gibson syndrome, OMIM:617561
  • Cohen-Gibson syndrome, MONDO:0060510
Tags
Green Green List (high evidence)
EFNB1
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Craniofrontonasal dysplasia, OMIM:304110
Tags
Green Green List (high evidence)
EFTUD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
Tags
Green Green List (high evidence)
EHBP1L1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • non-immune hydrops fetalis MONDO:0009369
Tags
  • gene-checked
Green Green List (high evidence)
EHMT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 9Q SUBTELOMERIC DELETION SYNDROME
Tags
Green Green List (high evidence)
EIF2AK3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WOLCOTT-RALLISON SYNDROME
Tags
Green Green List (high evidence)
EIF2B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • vanishing white matter disease 603896
Tags
Green Green List (high evidence)
EIF2S3
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEHMO syndrome, OMIM:300148
  • MEHMO syndrome, MONDO:0010258
Tags
Green Green List (high evidence)
EIF4A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RICHIERI-COSTA-PEREIRA SYNDROME
Tags
Green Green List (high evidence)
EIF5A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Faundes-Banka syndrome, OMIM:619376
Tags
Green Green List (high evidence)
ELAC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
ELN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ELN-RELATED CUTIS LAXA
  • SUPRAVALVAR AORTIC STENOSIS
Tags
Green Green List (high evidence)
ELOVL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Tags
Green Green List (high evidence)
EMD
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Tags
Green Green List (high evidence)
EML1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Band heterotopia, OMIM:600348
Tags
Green Green List (high evidence)
EMX2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Schizencephaly, 269160
Tags
Green Green List (high evidence)
ENPP1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Arterial calcification, generalized, of infancy, 1, OMIM:208000
Tags
Green Green List (high evidence)
EOGT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADAMS OLIVER SYNDROME
Tags
Green Green List (high evidence)
EP300
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RUBINSTEIN-TAYBI SYNDROME TYPE 2
Tags
Green Green List (high evidence)
EPG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
EPHB4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Lymphatic malformation 7, OMIM:617300
  • hydrops fetalis
Tags
Green Green List (high evidence)
ERCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBROOCULOFACIOSKELETAL SYNDROME 4
  • FANCONI ANEMIA
Tags
Green Green List (high evidence)
ERCC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D
  • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
  • TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Tags
Green Green List (high evidence)
ERCC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B
  • TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Tags
Green Green List (high evidence)
ERCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • XFE PROGEROID SYNDROME
  • FANCONI ANEMIA, COMPLEMENTATION GROUP Q
  • PRIMORDIAL DWARFISM
  • XERODERMA PIGMENTOSUM, GROUP F
  • Xeroderma pigmentosum, group F, 278760
Tags
Green Green List (high evidence)
ERCC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cerebrooculofacioskeletal syndrome 3, OMIM:616570
  • Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Tags
Green Green List (high evidence)
ERCC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • UV-SENSITIVE SYNDROME
  • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1
  • COCKAYNE SYNDROME TYPE B
  • DE SANCTIS-CACCHIONE SYNDROME
Tags
Green Green List (high evidence)
ERCC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COCKAYNE SYNDROME TYPE A
Tags
Green Green List (high evidence)
ERF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMPLEX CRANIOSYNOSTOSIS
  • Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia
Tags
Green Green List (high evidence)
ESCO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SC PHOCOMELIA SYNDROME
  • ROBERTS SYNDROME
Tags
Green Green List (high evidence)
ETFA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Glutaric acidemia IIA, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
Green Green List (high evidence)
ETFB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Glutaric acidemia IIB, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
Green Green List (high evidence)
ETFDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLUTARIC ACIDURIA TYPE 2C
Tags
Green Green List (high evidence)
EVC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ELLIS-VAN CREVELD SYNDROME
  • ACROFACIAL DYSOSTOSIS WEYERS TYPE
Tags
Green Green List (high evidence)
EVC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ELLIS-VAN CREVELD SYNDROME
  • ACROFACIAL DYSOSTOSIS WEYERS TYPE
Tags
Green Green List (high evidence)
EXOC3L2
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dandy-Walker malformation
  • Meckel-Gruber-like syndrome
Tags
  • gene-checked
Green Green List (high evidence)
EXOSC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, OMIM:614678
Tags
Green Green List (high evidence)
EXT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY MULTIPLE EXOSTOSES TYPE 1
  • TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2
Tags
Green Green List (high evidence)
EXT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EXOSTOSES, MULTIPLE, TYPE 2
Tags
Green Green List (high evidence)
EXTL3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Tags
Green Green List (high evidence)
EYA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRANCHIOOTORENAL SYNDROME TYPE 1
Tags
Green Green List (high evidence)
EZH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WEAVER SYNDROME 2
Tags
Green Green List (high evidence)
FAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TYROSINEMIA TYPE 1
Tags
Green Green List (high evidence)
FAM111A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KENNY-CAFFEY SYNDROME
Tags
Green Green List (high evidence)
FAM126A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 5
Tags
  • new-gene-name
Green Green List (high evidence)
FAM20A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME
Tags
Green Green List (high evidence)
FAM20C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RAINE SYNDROME
Tags
Green Green List (high evidence)
FAM46A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XVIII, OMIM:617952
  • Osteogenesis imperfecta, type 18, MONDO:0044329
Tags
  • new-gene-name
Green Green List (high evidence)
FAM58A
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • STAR SYNDROME
Tags
  • new-gene-name
Green Green List (high evidence)
FANCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP A
Tags
Green Green List (high evidence)
FANCB
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCB-RELATED FANCONI ANEMIA
Tags
Green Green List (high evidence)
FANCC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP C
Tags
Green Green List (high evidence)
FANCD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP D2
Tags
Green Green List (high evidence)
FANCE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP E
Tags
Green Green List (high evidence)
FANCF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP F
Tags
Green Green List (high evidence)
FANCG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP G
Tags
Green Green List (high evidence)
FANCI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCI-RELATED FANCONI ANEMIA
  • FANCONI ANEMIA
Tags
Green Green List (high evidence)
FANCL
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Fanconi anemia, complementation group L, OMIM:614083
  • Fanconi anemia complementation group L, MONDO:0013566
Tags
Green Green List (high evidence)
FAR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Tags
Green Green List (high evidence)
FAT4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PERIVENTRICULAR NEURONAL HETEROTOPIA
Tags
Green Green List (high evidence)
FBLN5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • ?Cutis laxa, autosomal dominant 2, OMIM:614434
  • Cutis laxa, autosomal recessive, type IA, OMIM:219100
Tags
Green Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
  • MARFAN SYNDROME
  • MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE
Tags
Green Green List (high evidence)
FBN2
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Contractural arachnodactyly, congenital OMIM:121050
  • congenital contractural arachnodactyly MONDO:0007363
Tags
Green Green List (high evidence)
FBXL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Tags
Green Green List (high evidence)
FGD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AARSKOG-SCOTT SYNDROME
Tags
Green Green List (high evidence)
FGF10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LADD SYNDROME
Tags
Green Green List (high evidence)
FGF3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA
Tags
Green Green List (high evidence)
FGF8
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia 612702
Tags
Green Green List (high evidence)
FGFR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
  • OSTEOGLOPHONIC DYSPLASIA
  • PFEIFFER SYNDROME
  • KALLMANN SYNDROME TYPE 2
  • Hartsfield syndrome
  • Encephalocraniocutaneous lipomatosis
Tags
  • mosaicism
Green Green List (high evidence)
FGFR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BEARE-STEVENSON CUTIS GYRATA SYNDROME
  • LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
  • JACKSON-WEISS SYNDROME
  • ACROCEPHALOSYNDACTYLY TYPE V
  • FAMILIAL SCAPHOCEPHALY SYNDROME
  • ANTLEY-BIXLER SYNDROME
  • CROUZON SYNDROME
  • APERT SYNDROME
Tags
Green Green List (high evidence)
FGFR3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
  • MUENKE SYNDROME
  • ACHONDROPLASIA
  • CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
  • CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME
  • HYPOCHONDROPLASIA
  • THANATOPHORIC DYSPLASIA TYPE 2
  • THANATOPHORIC DYSPLASIA TYPE 1
Tags
Green Green List (high evidence)
FH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Fumarase deficiency, OMIM:606812
Tags
Green Green List (high evidence)
FIG4
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Yunis-Varon syndrome, OMIM:216340
  • Yunis-Varon syndrome, MONDO:0008995
  • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
  • Charcot-Marie-Tooth disease type 4J, MONDO:0012640
  • ?Polymicrogyria, bilateral temporooccipital, OMIM:612691
  • Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986
Tags
Green Green List (high evidence)
FKBP10
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bruck syndrome 1, OMIM:259450
  • Bruck syndrome 1, MONDO:0009806
  • Osteogenesis imperfecta, type XI, OMIM:610968
  • Osteogenesis imperfecta type 11, MONDO:0012592
Tags
Green Green List (high evidence)
FKBP14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Tags
Green Green List (high evidence)
FKRP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5
Tags
Green Green List (high evidence)
FKTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4
  • CARDIOMYOPATHY DILATED TYPE 1X
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4
Tags
Green Green List (high evidence)
FLNA
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TERMINAL OSSEOUS DYSPLASIA
  • OTOPALATODIGITAL SYNDROME TYPE 1
  • EPILEPTIC ENCEPHALOPATHY
  • MELNICK-NEEDLES SYNDROME
  • PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1
  • FG SYNDROME TYPE 2
  • X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION
  • OTOPALATODIGITAL SYNDROME TYPE 2
  • FRONTOMETAPHYSEAL DYSPLASIA
Tags
Green Green List (high evidence)
FLNB
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATELOSTEOGENESIS TYPE 1
  • BOOMERANG DYSPLASIA
  • SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
  • AUTOSOMAL DOMINANT LARSEN SYNDROME
  • ATELOSTEOGENESIS TYPE 3
Tags
Green Green List (high evidence)
FLNC
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis, MONDO:0008779
Tags
Green Green List (high evidence)
FLT4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MILROY DISEASE
Tags
Green Green List (high evidence)
FLVCR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME
Tags
Green Green List (high evidence)
FOLR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Tags
Green Green List (high evidence)
FOXC1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • IRIDOGONIODYSGENESIS ANOMALY
  • AXENFELD-RIEGER SYNDROME TYPE 3
  • PETERS ANOMALY
Tags
Green Green List (high evidence)
FOXC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LYMPHEDEMA-DISTICHIASIS SYNDROME
  • HEREDITARY LYMPHEDEMA II
Tags
Green Green List (high evidence)
FOXE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BAMFORTH-LAZARUS SYNDROME
Tags
Green Green List (high evidence)
FOXE3
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256
  • Cataract 34, multiple types, OMIM:612968
  • {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA
  • ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
Tags
Green Green List (high evidence)
FOXF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
Tags
Green Green List (high evidence)
FOXG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Rett Syndrome, congenital variant OMIM:613454
  • Rett syndrome, congenital variant MONDO:0013270
Tags
Green Green List (high evidence)
FOXP3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • IPEX SYNDROME
Tags
Green Green List (high evidence)
FOXRED1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
FRAS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRASER SYNDROME
Tags
Green Green List (high evidence)
FREM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MANITOBA OCULOTRICHOANAL SYNDROME
Tags
Green Green List (high evidence)
FREM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRASER SYNDROME
Tags
Green Green List (high evidence)
FRMD4A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Tags
Green Green List (high evidence)
FTL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Tags
Green Green List (high evidence)
FUT8
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005
  • Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775
Tags
Green Green List (high evidence)
FYCO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
Tags
Green Green List (high evidence)
FZD2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Omodysplasia 2, OMIM:164745
  • Autosomal dominant omodysplasia, MONDO:0008123
Tags
Green Green List (high evidence)
G6PC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Dursun syndrome
  • Neutropenia, severe congenital 4, autosomal recessive
Tags
Green Green List (high evidence)
GAA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLYCOGEN STORAGE DISEASE TYPE II
Tags
Green Green List (high evidence)
GALC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Krabbe disease, OMIM:245200
Tags
Green Green List (high evidence)
GALE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPIMERASE-DEFICIENCY GALACTOSEMIA
Tags
Green Green List (high evidence)
GALK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GALACTOSEMIA II
Tags
Green Green List (high evidence)
GALNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 4A
Tags
Green Green List (high evidence)
GALNT2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIt OMIM:618885
Tags
Green Green List (high evidence)
GANAB
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 3, OMIM:600666
  • Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916
Tags
Green Green List (high evidence)
GATA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EMBERGER SYNDROME
Tags
Green Green List (high evidence)
GATA3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255
  • Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797
Tags
Green Green List (high evidence)
GATA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATRIAL SEPTAL DEFECT TYPE 2
Tags
Green Green List (high evidence)
GATA6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATRIAL SEPTAL DEFECT 9
  • PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS
  • ATRIOVENTRICULAR SEPTAL DEFECT 5
Tags
Green Green List (high evidence)
GATB
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
Tags
Green Green List (high evidence)
GBA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GAUCHER DISEASE TYPE 3C
  • GAUCHER DISEASE TYPE 1
  • GAUCHER DISEASE PERINATAL LETHAL
  • GAUCHER DISEASE TYPE 3
  • GAUCHER DISEASE
  • GAUCHER DISEASE TYPE 2
Tags
  • new-gene-name
Green Green List (high evidence)
GBA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Tags
Green Green List (high evidence)
GBE1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Glycogen storage disease IV, OMIM:232500
  • Fetal akinesia deformation sequence
Tags
Green Green List (high evidence)
GCDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLUTARICACIDEMIA TYPE 1
Tags
Green Green List (high evidence)
GDF1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects, multiple types, 6, OMIM:613854
  • Right atrial isomerism (Ivemark), OMIM:208530
Tags
Green Green List (high evidence)
GDF5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRACHYDACTYLY TYPE C
  • SYMPHALANGISM PROXIMAL SYNDROME
  • DU PAN SYNDROME
  • BRACHYDACTYLY TYPE A1
  • ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE
  • ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE
  • BRACHYDACTYLY TYPE A2
  • MULTIPLE SYNOSTOSES SYNDROME TYPE 2
Tags
Green Green List (high evidence)
GDF6
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA ISOLATED TYPE 4
  • KLIPPEL-FEIL SYNDROME TYPE 1
  • Syndromic CAKUT
Tags
Green Green List (high evidence)
GFAP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALEXANDER DISEASE
Tags
Green Green List (high evidence)
GFM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
Tags
Green Green List (high evidence)
GFPT1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
  • Congenital myasthenic syndrome 12, MONDO:0012518
Tags
Green Green List (high evidence)
GJA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA
  • HYPOPLASTIC LEFT HEART SYNDROME
  • AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA
  • HALLERMANN-STREIFF SYNDROME
Tags
Green Green List (high evidence)
GJA3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
Tags
Green Green List (high evidence)
GJA8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT-MICROCORNEA SYNDROME
  • CATARACT ZONULAR PULVERULENT TYPE 1
Tags
Green Green List (high evidence)
GJC2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LYMPHEDEMA, HEREDITARY, IC
  • LEUKODYSTROPHY, HYPOMYELINATING, 2
  • SPASTIC PARAPLEGIA, 44
Tags
Green Green List (high evidence)
GLA
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Fabry disease, 301500
Tags
Green Green List (high evidence)
GLB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GM1-GANGLIOSIDOSIS TYPE 1
  • GM1-GANGLIOSIDOSIS TYPE 2
  • GM1-GANGLIOSIDOSIS TYPE 3
  • MUCOPOLYSACCHARIDOSIS TYPE 4B
Tags
Green Green List (high evidence)
GLDC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLDC-RELATED GLYCINE ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GLDN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Lethal arthroogryposis
Tags
Green Green List (high evidence)
GLE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Tags
Green Green List (high evidence)
GLI1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polydactyly, postaxial, type A8, OMIM:618123
  • Polydactyly, postaxial, type A8, MONDO:0029130
  • Polydactyly, preaxial I, OMIM:174400
  • Preaxial polydactyly of fingers, MONDO:0017425
Tags
Green Green List (high evidence)
GLI2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLI2-RELATED HOLOPROSENCEPHALY
Tags
Green Green List (high evidence)
GLI3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PALLISTER-HALL SYNDROME
  • GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
  • PREAXIAL POLYDACTYLY TYPE IV
  • POSTAXIAL POLYDACTYLY TYPE A
Tags
Green Green List (high evidence)
GLIS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM
Tags
Green Green List (high evidence)
GLUL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY
Tags
Green Green List (high evidence)
GMNN
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Meier-Gorlin syndrome 6, OMIM:616835
  • Meier-Gorlin syndrome 6, MONDO:0014794
Tags
Green Green List (high evidence)
GMPPB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Tags
Green Green List (high evidence)
GNAI3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AURICULOCONDYLAR SYNDROME
Tags
Green Green List (high evidence)
GNAO1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GNAS
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pseudohypoparathyroidism Ia, OMIM:103580
  • pseudohypoparathyroidism type 1A, MONDO:0007078
  • Pseudohypoparathyroidism Ib, OMIM:603233
  • pseudohypoparathyroidism type 1B, MONDO:0011301
  • Pseudohypoparathyroidism Ic, OMIM:612462
  • pseudohypoparathyroidism type 1C, MONDO:0012911
  • McCune-Albright syndrome, somatic, mosaic, OMIM:174800
  • panostotic fibrous dysplasia, MONDO:0043168
  • Osseous heteroplasia, progressive, OMIM:166350
  • progressive osseous heteroplasia, MONDO:0008153
  • ACTH-independent macronodular adrenal hyperplasia. OMIM:219080
  • ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735
  • Pseudopseudohypoparathyroidism, OMIM:612463
  • pseudopseudohypoparathyroidism, MONDO:0012912
Tags
  • mosaicism
Green Green List (high evidence)
GNB1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mental retardation, autosomal dominant 42 OMIM:616973
  • intellectual disability, autosomal dominant 42 MONDO:0014855
Tags
Green Green List (high evidence)
GNPAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
Tags
Green Green List (high evidence)
GNPTAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOLIPIDOSIS TYPE II
  • MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A
Tags
Green Green List (high evidence)
GNPTG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C
Tags
Green Green List (high evidence)
GNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3D
Tags
Green Green List (high evidence)
GORAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Geroderma osteodysplasticum
Tags
Green Green List (high evidence)
GPC3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Tags
Green Green List (high evidence)
GPC6
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Omodysplasia 1, OMIM:258315
  • Autosomal recessive omodysplasia, MONDO:0009779
Tags
Green Green List (high evidence)
GPI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470
Tags
Green Green List (high evidence)
GPSM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHUDLEY-MCCULLOUGH SYNDROME
Tags
Green Green List (high evidence)
GREB1L
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Renal hypodysplasia/aplasia 3, OMIM:617805
  • Renal agenesis, MONDO:0018470
Tags
  • gene-checked
Green Green List (high evidence)
GRHL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VAN DER WOUDE SYNDROME
Tags
Green Green List (high evidence)
GRIN1
3 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
  • intellectual disability, autosomal dominant 8 MONDO:0013655
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
  • neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Tags
Green Green List (high evidence)
GRIN2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970
  • Developmental and epileptic encephalopathy 27, OMIM:616139
Tags
Green Green List (high evidence)
GRIP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Fraser syndrome 219000
Tags
Green Green List (high evidence)
GSC
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471
  • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227
Tags
Green Green List (high evidence)
GTF2H5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Tags
Green Green List (high evidence)
GTPBP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GUCY2C
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MECONIUM ILEUS
  • FAMILIAL DIARRHEA DIARRHEA 6
Tags
Green Green List (high evidence)
GUSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 7
Tags
Green Green List (high evidence)
GZF1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Joint laxity, short stature, and myopia, OMIM:617662
  • Joint laxity, short stature, and myopia, MONDO:0060556
Tags
Green Green List (high evidence)
HAAO
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 1 617660
Tags
Green Green List (high evidence)
HADHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
Tags
Green Green List (high evidence)
HADHB
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Trifunctional protein deficiency, OMIM:609015
  • Mitochondrial trifunctional protein deficiency, MONDO:0012172
Tags
Green Green List (high evidence)
HBA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thalassemias, alpha-, OMIM:604131
  • Fatal hydrops fetalis
  • Hb Bart syndrome
Tags
Green Green List (high evidence)
HBA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thalassemias, alpha-, OMIM:604131
  • Fatal hydrops fetalis
  • Hb Bart syndrome
Tags
Green Green List (high evidence)
HCCS
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA SYNDROMIC TYPE 7
Tags
Green Green List (high evidence)
HCFC1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, X-LINKED 3
  • COBALAMIN DISORDER
Tags
Green Green List (high evidence)
HDAC8
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WILSON-TURNER SYNDROME
  • CORNELIA DE LANGE-LIKE SYNDROME
Tags
Green Green List (high evidence)
HES7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive 613686
Tags
Green Green List (high evidence)
HESX1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Septooptic dysplasia, OMIM:182230
  • Septooptic dysplasia, MONDO:0008428
Tags
Green Green List (high evidence)
HIBCH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HIBCH DEFICIENCY
Tags
Green Green List (high evidence)
HIST1H1E
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Rahman syndrome, OMIM:617537
  • Rahman syndrome, MONDO:0044323
Tags
  • new-gene-name
Green Green List (high evidence)
HIVEP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HIVEP2 associated syndromic developmental delay with intellectual disability
Tags
Green Green List (high evidence)
HMGA2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Silver-Russell syndrome 5, OMIM:618908
  • Silver-Russell syndrome 5, MONDO:0020795
Tags
Green Green List (high evidence)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RENAL CYSTS AND DIABETES SYNDROME
Tags
Green Green List (high evidence)
HNF4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY
  • HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1
Tags
Green Green List (high evidence)
HNRNPK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Au-Kline syndrome, 616580
Tags
Green Green List (high evidence)
HOXA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BOSLEY-SALIH-ALORAINY SYNDROME
  • ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
Tags
Green Green List (high evidence)
HOXA13
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HAND-FOOT-GENITAL SYNDROME
Tags
Green Green List (high evidence)
HOXD13
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SYNPOLYDACTYLY 1
  • BRACHYDACTYLY TYPE D
  • BRACHYDACTYLY-SYNDACTYLY SYNDROME
  • BRACHYDACTYLY TYPE E
  • VACTERL ASSOCIATION
  • SYNDACTYLY TYPE 5
Tags
Green Green List (high evidence)
HPSE2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • UROFACIAL SYNDROME
Tags
Green Green List (high evidence)
HR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATRICHIA WITH PAPULAR LESIONS
  • ALOPECIA UNIVERSALIS
Tags
Green Green List (high evidence)
HRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COSTELLO SYNDROME
  • CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES
Tags
Green Green List (high evidence)
HSD17B3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia 264300
Tags
Green Green List (high evidence)
HSD17B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • D-BIFUNCTIONAL PROTEIN DEFICIENCY
  • PERRAULT SYNDROME
Tags
Green Green List (high evidence)
HSF4
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cataract 5, multiple types, OMIM:116800
Tags
Green Green List (high evidence)
HSPD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 4
Tags
Green Green List (high evidence)
HSPG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Schwartz-Jampel syndrome, type 1, OMIM:255800
  • Schwartz-Jampel syndrome, MONDO:0009717
  • Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410
  • Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140
Tags
Green Green List (high evidence)
HUWE1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
Tags
Green Green List (high evidence)
HYLS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYDROLETHALUS SYNDROME TYPE 1
Tags
Green Green List (high evidence)
IARS
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Tags
  • new-gene-name
Green Green List (high evidence)
IBA57
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
Tags
Green Green List (high evidence)
ICK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
Green Green List (high evidence)
IDH1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875
  • Maffucci syndrome 614569
  • Ollier disease/ Dyschondroplasia 166000
Tags
Green Green List (high evidence)
IDS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 2
Tags
Green Green List (high evidence)
IDUA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 1H
  • MUCOPOLYSACCHARIDOSIS TYPE 1H/S
  • MUCOPOLYSACCHARIDOSIS TYPE 1S
Tags
Green Green List (high evidence)
IER3IP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome 614231
Tags
Green Green List (high evidence)
IFIH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Aicardi-Goutieres syndrome 7, OMIM:615846
  • Singleton-Merten syndrome 1, OMIM:182250
Tags
  • watchlist
Green Green List (high evidence)
IFITM5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OSTEOGENESIS IMPERFECTA TYPE V
Tags
Green Green List (high evidence)
IFT122
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cranioectodermal dysplasia type 1 OMIM:218330
  • cranioectodermal dysplasia 1 MONDO:0021093
Tags
Green Green List (high evidence)
IFT140
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MAINZER-SALDINO SYNDROME
Tags
Green Green List (high evidence)
IFT172
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MAINZER-SALDINO SYNDROME
  • JEUNE SYNDROME
Tags
Green Green List (high evidence)
IFT43
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRANIOECTODERMAL DYSPLASIA TYPE 3
Tags
Green Green List (high evidence)
IFT52
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
  • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Tags
Green Green List (high evidence)
IFT80
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ASPHYXIATING THORACIC DYSTROPHY 2
Tags
Green Green List (high evidence)
IFT81
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895
  • Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485
Tags
Green Green List (high evidence)
IGF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
Tags
Green Green List (high evidence)
IGF1R
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Insulin-like growth factor I, resistance to, OMIM:270450
Tags
Green Green List (high evidence)
IGF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME
  • BECKWITH-WIEDEMANN SYNDROME
Tags
Green Green List (high evidence)
IGHMBP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Tags
Green Green List (high evidence)
IHH
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Acrocapitofemoral dysplasia, OMIM:607778
  • Brachydactyly, type A1, OMIM:112500
Tags
Green Green List (high evidence)
IKBKG
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1
  • INCONTINENTIA PIGMENTI
  • ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA
  • ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED
  • IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
Tags
Green Green List (high evidence)
IL11RA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Autosomal Recessive Craniosynostosis
  • Crouzon-like craniosynostosis
  • Craniosynostosis and dental anomalies, 614188
Tags
Green Green List (high evidence)
IL1RAPL1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 21
Tags
Green Green List (high evidence)
IMPAD1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE
Tags
  • new-gene-name
Green Green List (high evidence)
INPP5E
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS
  • JOUBERT SYNDROME TYPE 1
Tags
Green Green List (high evidence)
INPPL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OPSISMODYSPLASIA
Tags
Green Green List (high evidence)
INSR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • DONOHUE SYNDROME 246200
  • Hyperinsulinemic hypoglycemia, familial, 5 609968
  • Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549
  • Rabson-Mendenhall syndrome 262190
Tags
Green Green List (high evidence)
INTU
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Short-rib thoracic dysplasia 20 with polydactyly, 617925
Tags
Green Green List (high evidence)
INVS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Nephronophthisis 2 602088
Tags
Green Green List (high evidence)
IQCB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Senior-Loken syndrome 5 609254
Tags
Green Green List (high evidence)
IRF6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POPLITEAL PTERYGIUM SYNDROME
  • VAN DER WOUDE SYNDROME
Tags
Green Green List (high evidence)
Xp21.2 region (includes NR0B1) Gain
ISCA-46302-Gain
Region
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • gonadal dysgenesis
Tags
Green Green List (high evidence)
ISPD
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WALKER WARBURG SYNDROME
Tags
  • new-gene-name
Green Green List (high evidence)
ITGA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
Tags
Green Green List (high evidence)
ITGA6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Epidermolysis Bullosa with Pyloric Atresia. 226730
Tags
Green Green List (high evidence)
ITGA8
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Renal hypodysplasia/aplasia 1, OMIM:191830
  • Renal hypodysplasia/aplasia 1, MONDO:0024519
Tags
Green Green List (high evidence)
ITGB4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Epidermolysis Bullosa with Pyloric Atresia. 226730
Tags
Green Green List (high evidence)
JAG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALAGILLE SYNDROME
Tags
Green Green List (high evidence)
KANSL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHROMOSOME 17Q21.31 MICRODELETION SYNDROME
Tags
Green Green List (high evidence)
KAT6A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
Tags
Green Green List (high evidence)
KAT6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
  • GENITOPATELLAR SYNDROME
Tags
Green Green List (high evidence)
KATNB1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
Tags
Green Green List (high evidence)
KCNJ1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Bartter syndrome 241200
Tags
Green Green List (high evidence)
KCNJ2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
Tags
Green Green List (high evidence)
KCTD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SCALP-EAR-NIPPLE SYNDROME
Tags
Green Green List (high evidence)
KDM5C
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
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534
Tags
Green Green List (high evidence)
KDM6A
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KABUKI SYNDROME 2
Tags
Green Green List (high evidence)
KIAA0586
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME
Tags
Green Green List (high evidence)
KIAA0753
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ?Orofaciodigital syndrome XV, OMIM:617127
  • Orofaciodigital syndrome XV, MONDO:0014932
Tags
Green Green List (high evidence)
KIAA1109
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Brain atrophy, Dandy Walker and Contractures
  • Alkuraya-Kucinskas syndrome, 617822
Tags
  • new-gene-name
Green Green List (high evidence)
KIF11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY
Tags
Green Green List (high evidence)
KIF14
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, OMIM:617914
  • Microcephaly 20, primary, autosomal recessive, MONDO:0054761
  • Meckel syndrome 12, OMIM:616258
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Tags
Green Green List (high evidence)
KIF1A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213
  • NESCAV SYNDROME, 614255
Tags
Green Green List (high evidence)
KIF1BP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
Tags
  • new-gene-name
Green Green List (high evidence)
KIF21A
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Arthrogryposis
  • fetal akinesia
Tags
Green Green List (high evidence)
KIF22
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Tags
Green Green List (high evidence)
KIF2A
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3, OMIM:615411
  • Complex cortical dysplasia with other brain malformations 3, MONDO:0014170
Tags
Green Green List (high evidence)
KIF5C
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282
  • Complex cortical dysplasia with other brain malformations 2, MONDO:0014116
Tags
Green Green List (high evidence)
KIF7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • ACROCALLOSAL SYNDROME
Tags
Green Green List (high evidence)
KLF1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dyserythropoietic anemia, congenital, type IV, OMIM:613673
  • Hydrops Fetalis
Tags
Green Green List (high evidence)
KLHL40
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE
Tags
Green Green List (high evidence)
KLHL41
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Nemaline myopathy 615731
Tags
Green Green List (high evidence)
KLHL7
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PERCHING syndrome, OMIM:617055
  • PERCHING syndrome, MONDO:0014890
Tags
Green Green List (high evidence)
KMT2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Wiedemann-Steiner syndrome, OMIM:605130
Tags
Green Green List (high evidence)
KMT2C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
  • Kleefstra syndrome 2 617768
Tags
  • watchlist
Green Green List (high evidence)
KMT2D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KABUKI SYNDROME
Tags
Green Green List (high evidence)
KNL1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Microcephaly 4, primary, autosomal recessive, OMIM:604321
  • Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Tags
Green Green List (high evidence)
KRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN SYNDROME TYPE 3
  • CARDIOFACIOCUTANEOUS SYNDROME
Tags
Green Green List (high evidence)
KRIT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
Tags
Green Green List (high evidence)
KYNU
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 2 617661
Tags
Green Green List (high evidence)
L1CAM
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME
  • PARTIAL AGENESIS OF THE CORPUS CALLOSUM
  • HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS
  • SPASTIC PARAPLEGIA X-LINKED TYPE 1
Tags
Green Green List (high evidence)
L2HGDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • L-2-HYDROXYGLUTARIC ACIDURIA
Tags
Green Green List (high evidence)
LAMA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Green Green List (high evidence)
LAMA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL MUSCULAR DYSTROPHY
Tags
Green Green List (high evidence)
LAMB1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Lissencephaly 5, OMIM:615191
  • Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
Tags
Green Green List (high evidence)
LAMC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OCCIPITAL CORTICAL MALFORMATIONS
Tags
Green Green List (high evidence)
LARGE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6
Tags
Green Green List (high evidence)
LARP7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALAZAMI SYNDROME
Tags
Green Green List (high evidence)
LARS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Tags
Green Green List (high evidence)
LBR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
Tags
Green Green List (high evidence)
LFNG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOCOSTAL DYSOSTOSIS TYPE 3
Tags
Green Green List (high evidence)
LGI4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS MULTIPLEX CONGENITA
Tags
Green Green List (high evidence)
LHX3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3
Tags
Green Green List (high evidence)
LHX4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Tags
Green Green List (high evidence)
LIFR
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559
Tags
  • to_be_confirmed_NHSE
Green Green List (high evidence)
LIG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION
  • LIG4 SYNDROME
Tags
Green Green List (high evidence)
LIPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Wolman disease, 278000
  • Lysosomal Acid Lipase Deficiency
Tags
Green Green List (high evidence)
LMBR1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Triphalangeal thumb-polysyndactyly syndrome 174500
  • Laurin-Sandrow syndrome 135750
  • Hypoplastic or aplastic tibia with polydactyly 188740
  • Syndactyly, type IV 186200
  • Triphalangeal thumb, type I 174500
  • Polydactyly, preaxial type II 174500
  • Acheiropody 200500
Tags
Green Green List (high evidence)
LMBRD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF
Tags
Green Green List (high evidence)
LMNA
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HUTCHINSON-GILFORD PROGERIA SYNDROME
  • MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED
  • HEART-HAND SYNDROME SLOVENIAN TYPE
  • MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
  • EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2
  • CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM
  • LETHAL TIGHT SKIN CONTRACTURE SYNDROME
  • CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1
  • FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2
  • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B
  • CARDIOMYOPATHY DILATED TYPE 1A
Tags
Green Green List (high evidence)
LMNB1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 26, primary, autosomal dominant, OMIM:619179
Tags
Green Green List (high evidence)
LMNB2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 27, primary, autosomal dominant, OMIM:619180
Tags
Green Green List (high evidence)
LMOD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Nemaline myopathy 616165
Tags
Green Green List (high evidence)
LMX1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NAIL-PATELLA SYNDROME
Tags
Green Green List (high evidence)
LONP1
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CODAS syndrome, OMIM:600373
  • CODAS syndrome, MONDO:0010879
Tags
  • watchlist_moi
Green Green List (high evidence)
LRP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DONNAI-BARROW SYNDROME
Tags
Green Green List (high evidence)
LRP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CENANI-LENZ SYNDACTYLY SYNDROME
Tags
Green Green List (high evidence)
LRP5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VITREORETINOPATHY EXUDATIVE TYPE 4
  • OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
  • ENDOSTEAL HYPEROSTOSIS WORTH TYPE
  • OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1
  • HIGH BONE MASS TRAIT
Tags
Green Green List (high evidence)
LRRC56
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 39, OMIM:618254
  • Ciliary dyskinesia, primary, 39, MONDO:0032637
Tags
  • gene-checked
Green Green List (high evidence)
LRRC6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DISKINESIA
Tags
  • new-gene-name
Green Green List (high evidence)
LTBP3
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Tags
Green Green List (high evidence)
LTBP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Cutis laxa, autosomal recessive, type IC 613177
Tags
Green Green List (high evidence)
LYST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHEDIAK-HIGASHI SYNDROME
Tags
Green Green List (high evidence)
LZTFL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Bardet-Biedl syndrome 17 615994
Tags
Green Green List (high evidence)
LZTR1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Noonan syndrome 10, 616564
Tags
Green Green List (high evidence)
MAB21L2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA, SYNDROMIC 14
Tags
Green Green List (high evidence)
MACF1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lissencephaly 9 with complex brainstem malformation, OMIM:618325
  • Lissencephaly 9 with complex brainstem malformation, MONDO:0032677
Tags
Green Green List (high evidence)
MAF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
  • CATARACT CONGENITAL CERULEAN TYPE 4
  • CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED
Tags
Green Green List (high evidence)
MAFB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
  • MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
Tags
  • watchlist
Green Green List (high evidence)
MAGEL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Schaaf-Yang syndrome
  • ARTHROGRYPOSIS MULTIPLEX CONGENITA
  • Schaaf-Yang syndrome, 615547
Tags
  • watchlist
Green Green List (high evidence)
MAP2K1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME
Tags
Green Green List (high evidence)
MAP2K2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME
Tags
Green Green List (high evidence)
MAP3K1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 46XY SEX REVERSAL 6
Tags
Green Green List (high evidence)
MAP3K20
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
  • Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695
  • Split-foot malformation with mesoaxial polydactyly, OMIM:616890
  • Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816
Tags
Green Green List (high evidence)
MAP3K7
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cardiospondylocarpofacial syndrome, OMIM:157800
  • Cardiospondylocarpofacial syndrome, MONDO:0008005
  • Frontometaphyseal dysplasia 2, OMIM:617137
  • Frontometaphyseal dysplasia 2, MONDO:0014935
Tags
Green Green List (high evidence)
MAPRE2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Symmetric circumferential skin creases, congenital, 2, 616734
Tags
Green Green List (high evidence)
MASP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3MC SYNDROME 1
Tags
Green Green List (high evidence)
MATN3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
Tags
Green Green List (high evidence)
MBTPS2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Keratosis follicularis spinulosa decalvans, X-linked 308800
  • IFAP syndrome with or without BRESHECK syndrome 308205
Tags
Green Green List (high evidence)
MCOLN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOLIPIDOSIS IV
Tags
Green Green List (high evidence)
MCPH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 1
Tags
Green Green List (high evidence)
MECOM
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
Tags
Green Green List (high evidence)
MED12
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LUJAN-FRYNS SYNDROME
  • OPITZ-KAVEGGIA SYNDROME
Tags
  • Skewed X-inactivation
  • to_be_confirmed_NHSE
Green Green List (high evidence)
MED13L
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
Tags
Green Green List (high evidence)
MEF2C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
Tags
Green Green List (high evidence)
MEGF10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA
Tags
Green Green List (high evidence)
MEGF8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARPENTER SYNDROME
Tags
Green Green List (high evidence)
MEIS2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cleft palate, cardiac defects, and mental retardation, OMIM:600987
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
Tags
Green Green List (high evidence)
MEOX1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Klippel-Feil syndrome 2, OMIM:214300
  • Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Tags
Green Green List (high evidence)
MESD
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XX, OMIM:618644
  • Osteogenesis imperfecta, type 20, MONDO:0032846
Tags
Green Green List (high evidence)
MESP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOCOSTAL DYSOSTOSIS TYPE 2
Tags
Green Green List (high evidence)
MFRP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NANOPHTHALMOS 2
  • MICROPHTHALMIA ISOLATED TYPE 5
Tags
Green Green List (high evidence)
MFSD2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Tags
Green Green List (high evidence)
MGP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KEUTEL SYNDROME
Tags
Green Green List (high evidence)
MID1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OPITZ G/BBB SYNDROME, X-LINKED
Tags
Green Green List (high evidence)
MKKS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 6
  • MCKUSICK-KAUFMAN SYNDROME
Tags
Green Green List (high evidence)
MKS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 13
  • MECKEL SYNDROME TYPE 1
Tags
Green Green List (high evidence)
MLC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS
Tags
Green Green List (high evidence)
MLYCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MALONYL-COA DECARBOXYLASE DEFICIENCY
Tags
Green Green List (high evidence)
MMACHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
Tags
Green Green List (high evidence)
MMADHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD
Tags
Green Green List (high evidence)
MMP13
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METAPHYSEAL ANADYSPLASIA TYPE 1
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE
Tags
Green Green List (high evidence)
MMP21
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MMP21-associated heterotaxy
Tags
Green Green List (high evidence)
MN1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CEBALID syndrome, OMIM:618774
  • CEBALID syndrome, MONDO:0032908
Tags
Green Green List (high evidence)
MNX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CURRARINO SYNDROME
Tags
Green Green List (high evidence)
MOCS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MOLYBDENUM COFACTOR DEFICIENCY
Tags
Green Green List (high evidence)
MOCS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MOLYBDENUM COFACTOR DEFICIENCY
Tags
Green Green List (high evidence)
MOGS
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital disorder of glycosylation, type IIb, OMIM:606056
  • MOGS-CDG, MONDO:0011629
Tags
Green Green List (high evidence)
MPDU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION
Tags
Green Green List (high evidence)
MPLKIP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1
Tags
Green Green List (high evidence)
MRAS
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Noonan syndrome 11, OMIM:618499
  • Noonan syndrome 11, MONDO:0032786
Tags
Green Green List (high evidence)
MRPS22
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
Tags
Green Green List (high evidence)
MSL3
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MSL3 syndrome
  • Basilicata-Akhtar syndrome, 301032
Tags
Green Green List (high evidence)
MSMO1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Tags
Green Green List (high evidence)
MSTO1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, mitochondrial, and ataxia, OMIM:617675
  • Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
Tags
  • Q1_24_MOI
Green Green List (high evidence)
MSX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Orofacial cleft 5, OMIM:608874
Tags
Green Green List (high evidence)
MSX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM
  • CRANIOSYNOSTOSIS, TYPE 2
Tags
Green Green List (high evidence)
MTFMT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 15, OMIM:614947
  • Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248
Tags
Green Green List (high evidence)
MTM1
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Myopathy, centronuclear, X-linked, OMIM:310400
Tags
Green Green List (high evidence)
MTO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS
Tags
Green Green List (high evidence)
MTOR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Smith-Kingsmore syndrome
Tags
Green Green List (high evidence)
MUSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Fetal akinesia deformation sequence
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
Tags
Green Green List (high evidence)
MYBPC1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Lethal congenital contracture syndrome 4 614915
  • Arthrogryposis, distal, type 1B 614335
Tags
Green Green List (high evidence)
MYCN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FEINGOLD SYNDROME TYPE 1
Tags
Green Green List (high evidence)
MYH10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MYH10-related Multiple congenital anomalies
  • Bilateral ventriculomegaly
  • aqueductal stenosis
Tags
  • gene-checked
Green Green List (high evidence)
MYH11
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Tags
Green Green List (high evidence)
MYH2
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Proximal myopathy and ophthalmoplegia, OMIM:605637
  • Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
Tags
Green Green List (high evidence)
MYH3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DISTAL ARTHROGRYPOSIS TYPE 2B
  • DISTAL ARTHROGRYPOSIS TYPE 2A
Tags
Green Green List (high evidence)
MYH6
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATRIAL SEPTAL DEFECT TYPE 3
  • CARDIOMYOPATHY DILATED TYPE 1EE
  • CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14
Tags
Green Green List (high evidence)
MYH7
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Laing distal myopathy, OMIM:160500
  • Laing early-onset distal myopathy, MONDO:0008050
  • Cardiomyopathy, hypertrophic, 1, OMIM:192600
  • Hypertrophic cardiomyopathy 1, MONDO:0008647
  • Cardiomyopathy, dilated, 1S, OMIM:613426
  • Dilated cardiomyopathy 1S, MONDO:0013262
  • Left ventricular noncompaction 5, OMIM:613426
Tags
Green Green List (high evidence)
MYH8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DISTAL ARTHROGRYPOSIS TYPE
  • CARNEY COMPLEX VARIANT
Tags
Green Green List (high evidence)
MYH9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEBASTIAN SYNDROME
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 17
  • EPSTEIN SYNDROME
  • FECHTNER SYNDROME
  • MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS
  • MAY-HEGGLIN ANOMALY
Tags
Green Green List (high evidence)
MYL1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
  • Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Tags
Green Green List (high evidence)
MYL9
5 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365
Tags
Green Green List (high evidence)
MYMK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Carey-Fineman-Ziter syndrome, OMIM:254940
  • Carey-Fineman-Ziter syndrome, MONDO:0009700
Tags
Green Green List (high evidence)
MYO18B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689
Tags
Green Green List (high evidence)
MYO9A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
  • Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
Tags
Green Green List (high evidence)
MYOCD
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Megabladder, congenital, OMIM:618719
  • Megabladder, congenital, MONDO:0032879
Tags
Green Green List (high evidence)
MYPN
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 11, autosomal recessive, 617336
Tags
Green Green List (high evidence)
MYRF
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac-urogenital syndrome, 618280
  • Congenital diaphragmatic hernia (CDH)
  • Disorders of sex development (DSD)
Tags
Green Green List (high evidence)
MYT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Oculo-auriculo-vertebral spectrum (OAVS)
  • OAVS/Goldenhar syndrome
Tags
  • gene-checked
Green Green List (high evidence)
NAA10
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • X-linked anophthalmia syndrome/Lenz
  • OGDEN SYNDROME
  • NONPECIFIC SEVERE ID
  • X-linked anophthalmia syndrome
Tags
Green Green List (high evidence)
NACC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Tags
Green Green List (high evidence)
NADSYN1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
  • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
Tags
Green Green List (high evidence)
NAGA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SCHINDLER DISEASE
  • KANZAKI DISEASE
Tags
Green Green List (high evidence)
NALCN
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY
  • HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES
  • CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
Tags
Green Green List (high evidence)
NANS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • infantile-onset severe developmental delay and skeletal dysplasia
Tags
Green Green List (high evidence)
NBAS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
Tags
Green Green List (high evidence)
NBN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NIJMEGEN BREAKAGE SYNDROME
Tags
Green Green List (high evidence)
NDE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LISSENCEPHALY 4
Tags
Green Green List (high evidence)
NDP
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NORRIE DISEASE
Tags
Green Green List (high evidence)
NDUFA6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253
Tags
Green Green List (high evidence)
NDUFAF5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 16, 618238
Tags
Green Green List (high evidence)
NDUFAF8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Tags
  • gene-checked
Green Green List (high evidence)
NDUFB10
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
Tags
Green Green List (high evidence)
NDUFB11
4 reviews
3 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021
  • Linear skin defects with multiple congenital anomalies 3, OMIM:300952
  • Cardiomyopathy
  • Agenesis of corpus callosum (ACC)
Tags
Green Green List (high evidence)
NDUFB3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Tags
Green Green List (high evidence)
NDUFS1
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Tags
Green Green List (high evidence)
NEB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY
Tags
Green Green List (high evidence)
NECTIN1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
  • Orofacial cleft 7, OMIM:225060
Tags
Green Green List (high evidence)
NECTIN4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
Tags
Green Green List (high evidence)
NEDD4L
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Periventricular nodular heterotopia 7, OMIM:617201
  • Periventricular nodular heterotopia 7, MONDO:0014966
Tags
Green Green List (high evidence)
NEK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHORT RIB-POLYDACTYLY SYNDORME, TYPE II
  • SHORT RIB-POLYDACTYLY SYNDROME, TYPE II
  • Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Tags
  • polygenic
Green Green List (high evidence)
NEK8
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ?Nephronophthisis 9, OMIM:613824
  • Nephronophthisis 9, MONDO:0013444
  • Renal-hepatic-pancreatic dysplasia 2, OMIM:615415
  • Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174
Tags
Green Green List (high evidence)
NEK9
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262
  • Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660
  • Lethal congenital contracture syndrome 10, OMIM:617022
  • NEK9-related lethal skeletal dysplasia, MONDO:0014870
Tags
Green Green List (high evidence)
NEU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SIALIDOSIS
Tags
Green Green List (high evidence)
NF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUROFIBROMATOSIS-NOONAN SYNDROME
  • FAMILIAL SPINAL NEUROFIBROMATOSIS
  • NEUROFIBROMATOSIS TYPE 1
  • WATSON SYNDROME
Tags
Green Green List (high evidence)
NFIX
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MARSHALL-SMITH SYNDROME
  • SOTOS-LIKE SYNDROME
Tags
Green Green List (high evidence)
NHEJ1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291
Tags
Green Green List (high evidence)
NHS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT CONGENITAL X-LINKED
  • NANCE-HORAN SYNDROME
Tags
Green Green List (high evidence)
NIPAL4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
  • Autosomal recessive congenital ichthyosis 6, MONDO:0012847
Tags
Green Green List (high evidence)
NIPBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORNELIA DE LANGE SYNDROME TYPE 1
Tags
Green Green List (high evidence)
NKX2-5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
  • TETRALOGY OF FALLOT
  • CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5
Tags
Green Green List (high evidence)
NKX3-2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
Tags
Green Green List (high evidence)
NODAL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HETEROTAXY SYNDROME
Tags
Green Green List (high evidence)
NOG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRACHYDACTYLY TYPE B2
  • SYMPHALANGISM PROXIMAL SYNDROME
  • MULTIPLE SYNOSTOSES SYNDROME TYPE 1
  • TARSAL-CARPAL COALITION SYNDROME
  • STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
Tags
Green Green List (high evidence)
NOTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADAMS OLIVER SYNDROME
  • LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION
Tags
Green Green List (high evidence)
NOTCH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HAJDU-CHENEY SYNDROME
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NIEMANN-PICK DISEASE, TYPE C1
Tags
Green Green List (high evidence)
NPC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NIEMANN-PICK DISEASE, TYPE C2
Tags
Green Green List (high evidence)
NPHP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SENIOR-LOKEN SYNDROME TYPE 1
  • NEPHRONOPHTHISIS TYPE 1
  • JOUBERT SYNDROME TYPE 4
Tags
Green Green List (high evidence)
NPHP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MECKEL SYNDROME TYPE 7
  • RENAL-HEPATIC-PANCREATIC DYSPLASIA
  • NEPHRONOPHTHISIS TYPE 3
Tags
Green Green List (high evidence)
NPHP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEPHRONOPHTHISIS TYPE 4
Tags
Green Green List (high evidence)
NPHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEPHROTIC SYNDROME TYPE 1
Tags
Green Green List (high evidence)
NPR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE
Tags
Green Green List (high evidence)
NR0B1
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Adrenal hypoplasia, congenital 300200
  • 46XY sex reversal 2, dosage-sensitive 300018
Tags
Green Green List (high evidence)
NR2F2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
Tags
Green Green List (high evidence)
NR5A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 46XY SEX REVERSAL 3
  • SPERMATOGENIC FAILURE 8
Tags
Green Green List (high evidence)
NRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN SYNDROME TYPE 6
Tags
Green Green List (high evidence)
NSD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WEAVER SYNDROME
  • BECKWITH-WIEDEMANN SYNDROME
  • SOTOS SYNDROME
Tags
Green Green List (high evidence)
NSDHL
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
  • CK SYNDROME
Tags
Green Green List (high evidence)
NUBPL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
NUP107
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
Tags
Green Green List (high evidence)
NXN
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Robinow syndrome, autosomal recessive 2, OMIM:618529
  • Robinow syndrome, autosomal recessive 2, MONDO:0032800
Tags
Green Green List (high evidence)
OBSL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-M SYNDROME 2
Tags
Green Green List (high evidence)
OCLN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria 251290
Tags
Green Green List (high evidence)
OCRL
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dent disease 2, OMIM:300555
  • Lowe syndrome, OMIM:309000
Tags
Green Green List (high evidence)
OFD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME TYPE 10
  • SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2
  • ORAL-FACIAL-DIGITAL SYNDROME TYPE 1
Tags
Green Green List (high evidence)
OPHN1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Tags
Green Green List (high evidence)
ORC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEIER-GORLIN SYNDROME 1
Tags
Green Green List (high evidence)
ORC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEIER-GORLIN SYNDROME 2
Tags
Green Green List (high evidence)
ORC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEIER-GORLIN SYNDROME 3
Tags
Green Green List (high evidence)
OSGEP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Galloway-Mowat syndrome 3, OMIM:617729
  • Galloway-Mowat syndrome 3, MONDO:0033007
Tags
Green Green List (high evidence)
OSTM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Osteopetrosis 259720
Tags
Green Green List (high evidence)
OTUD5
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Tags
Green Green List (high evidence)
OTX2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA SYNDROMIC TYPE 5
Tags
Green Green List (high evidence)
P3H1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OSTEOGENESIS IMPERFECTA, TYPE VIII
Tags
Green Green List (high evidence)
P4HB
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cole-Carpenter syndrome 1, OMIM:112240
  • Cole-Carpenter syndrome 1, MONDO:0007204
Tags
Green Green List (high evidence)
PAFAH1B1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Lissencephaly 1, OMIM:607432
  • Subcortical laminar heterotopia, OMIM:607432
Tags
Green Green List (high evidence)
PAK3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 30
  • AGENESIS OF THE CORPUS CALLOSUM
Tags
Green Green List (high evidence)
PALB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP N
Tags
Green Green List (high evidence)
PAPSS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE
Tags
Green Green List (high evidence)
PARN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 6
Tags
Green Green List (high evidence)
PAX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RENAL-COLOBOMA SYNDROME
Tags
Green Green List (high evidence)
PAX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 1
  • CRANIOFACIAL-DEAFNESS-HAND SYNDROME
Tags
Green Green List (high evidence)
PAX6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COLOBOMA OF OPTIC NERVE
  • ANIRIDIA
  • BILATERAL OPTIC NERVE HYPOPLASIA
  • ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY
  • KERATITIS HEREDITARY
  • PETERS ANOMALY
  • FOVEAL HYPOPLASIA
Tags
Green Green List (high evidence)
PAX7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, progressive, with scoliosis, OMIM:618578
  • Myopathy, congenital, progressive, with scoliosis, MONDO:0032821
Tags
Green Green List (high evidence)
PAX8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2
Tags
Green Green List (high evidence)
PBX1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549
Tags
Green Green List (high evidence)
PC
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pyruvate carboxylase deficiency, OMIM:266150
Tags
Green Green List (high evidence)
PCGF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DUSBILITY
  • Craniofacial Neurological Cardiovascular and Skeletal Features
  • Intellectual disability
Tags
  • watchlist
Green Green List (high evidence)
PCNT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Tags
Green Green List (high evidence)
PCYT1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
Tags
Green Green List (high evidence)
PDCD10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3
Tags
Green Green List (high evidence)
PDE4D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACRODYSOSTOSIS
Tags
Green Green List (high evidence)
PDGFRB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PREMATURE AGING SYNDROME, PENTTINEN TYPE
  • FAMILIAL INFANTILE MYOFIBROMATOSIS
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
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency
  • X-LINKED LEIGH SYNDROME
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES
  • INTELLECTUAL DISABILTIY
Tags
Green Green List (high evidence)
PDHB
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Tags
Green Green List (high evidence)
PDHX
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Lacticacidemia due to PDX1 deficiency, OMIM:245349
Tags
Green Green List (high evidence)
PEPD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROLIDASE DEFICIENCY
Tags
Green Green List (high evidence)
PET100
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055
Tags
Green Green List (high evidence)
PEX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADRENOLEUKODYSTROPHY NEONATAL
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1
  • INFANTILE REFSUM DISEASE
Tags
Green Green List (high evidence)
PEX10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADRENOLEUKODYSTROPHY NEONATAL
  • ZELLWEGER SYNDROME
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
Tags
Green Green List (high evidence)
PEX11B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Peroxisome biogenesis disorder 14B
Tags
Green Green List (high evidence)
PEX12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ZELLWEGER SYNDROME
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3
Tags
Green Green List (high evidence)
PEX13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADRENOLEUKODYSTROPHY NEONATAL
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13
Tags
Green Green List (high evidence)
PEX14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K
  • ZELLWEGER SYNDROME
Tags
Green Green List (high evidence)
PEX16
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
  • ZELLWEGER SYNDROME
Tags
Green Green List (high evidence)
PEX19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ZELLWEGER SYNDROME
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14
Tags
Green Green List (high evidence)
PEX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5
  • ZELLWEGER SYNDROME
  • INFANTILE REFSUM DISEASE
Tags
Green Green List (high evidence)
PEX26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8
  • ADRENOLEUKODYSTROPHY NEONATAL
  • ZELLWEGER SYNDROME
  • INFANTILE REFSUM DISEASE
Tags
Green Green List (high evidence)
PEX3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12
  • ZELLWEGER SYNDROME
Tags
Green Green List (high evidence)
PEX5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ZELLWEGER SYNDROME
  • ADRENOLEUKODYSTROPHY NEONATAL
  • INFANTILE REFSUM DISEASE
Tags
Green Green List (high evidence)
PEX6
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11
  • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1
  • REFSUM DISEASE
Tags
Green Green List (high evidence)
PFKM
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease VII, OMIM:232800
  • Glycogen storage disease VII, MONDO:0009295
Tags
Green Green List (high evidence)
PGAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
PGAP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
Tags
Green Green List (high evidence)
PGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT
Tags
Green Green List (high evidence)
PGM3
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Immunodeficiency 23, OMIM:615816
  • PGM3-CDG, MONDO:0014353
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
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Tags
Green Green List (high evidence)
PHF8
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
Tags
Green Green List (high evidence)
PHGDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
  • NEU-LAXOVA SYNDROME
Tags
Green Green List (high evidence)
PHIP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental delay, ID, obesity and dysmorphic features
Tags
Green Green List (high evidence)
PHOX2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE
  • CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
Tags
Green Green List (high evidence)
PIBF1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Joubert syndrome 33, OMIM:617767
  • Joubert syndrome 33, MONDO:0033311
Tags
Green Green List (high evidence)
PIEZO1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380
  • Lymphatic malformation 6, OMIM:616843
  • Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Tags
Green Green List (high evidence)
PIEZO2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS, DISTAL, TYPE 3
  • Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception
Tags
Green Green List (high evidence)
PIGA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Tags
  • Skewed X-inactivation
Green Green List (high evidence)
PIGL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ZUNICH NEUROECTODERMAL SYNDROME
Tags
Green Green List (high evidence)
PIGN
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563
Tags
Green Green List (high evidence)
PIGO
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
Tags
Green Green List (high evidence)
PIGT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
Tags
Green Green List (high evidence)
PIGV
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERPHOSPHATASIA WITH MENTAL RETARDATION
Tags
Green Green List (high evidence)
PIH1D3
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991
  • Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517
Tags
  • new-gene-name
Green Green List (high evidence)
PIK3C2A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Oculoskeletodental syndrome, OMIM:618440
  • Oculocerebrodental syndrome, MONDO:0034145
Tags
Green Green List (high evidence)
PIK3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3
  • CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
  • HEMIMEGALENCEPHALY PIK3CA
Tags
  • mosaicism
Green Green List (high evidence)
PIK3R1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
  • SHORT SYNDROME
Tags
Green Green List (high evidence)
PIK3R2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Tags
Green Green List (high evidence)
PITX1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800
  • Clubfoot, MONDO:0007342
  • Liebenberg syndrome, OMIM:186550
  • Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520
Tags
Green Green List (high evidence)
PITX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RING DERMOID OF CORNEA
  • IRIDOGONIODYSGENESIS TYPE 2
  • AXENFELD-RIEGER SYNDROME TYPE 1
  • PETERS ANOMALY
Tags
Green Green List (high evidence)
PITX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
  • CATARACT POSTERIOR POLAR TYPE 4
  • CATARACT AUTOSOMAL DOMINANT
Tags
Green Green List (high evidence)
PKD1
3 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Polycystic kidney disease, 173900
  • Autosomal recessive polycystic kidney disease (ARPKD)
  • Autosomal dominant polycystic kidney disease (ADPKD)
Tags
Green Green List (high evidence)
PKD1L1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Laterality defects
Tags
Green Green List (high evidence)
PKD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Polycystic kidney disease 613095
Tags
Green Green List (high evidence)
PKHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
Tags
Green Green List (high evidence)
PKLR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Pyruvate kinase deficiency, OMIM:266200
Tags
Green Green List (high evidence)
PLAG1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Silver-Russell syndrome 4, OMIM:618907
  • Silver-russell syndrome 4, MONDO:0030118
Tags
Green Green List (high evidence)
PLCB4
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AURICULOCONDYLAR SYNDROME
Tags
Green Green List (high evidence)
PLD1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cardiac valvular defect, developmental, OMIM:212093
  • Cardiomyopathy
  • Congenital heart malformations
Tags
Green Green List (high evidence)
PLG
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Plasminogen deficiency, type I, OMIM:217090
  • Dysplasminogenemia, OMIM:217090
Tags
Green Green List (high evidence)
PLK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Tags
Green Green List (high evidence)
PLOD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM
Tags
Green Green List (high evidence)
PLOD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRUCK SYNDROME TYPE 2
Tags
Green Green List (high evidence)
PLXND1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Truncus arteriosus, HP:0001660
Tags
Green Green List (high evidence)
PMM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION
Tags
Green Green List (high evidence)
PNKP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
  • ATAXIA-OCULOMOTOR APRAXIA 4
Tags
Green Green List (high evidence)
PNPLA1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
  • Autosomal recessive congenital ichthyosis 10, MONDO:0014011
Tags
Green Green List (high evidence)
PNPLA8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
Tags
Green Green List (high evidence)
POC1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
  • PRIMORDIAL DWARFISM
Tags
Green Green List (high evidence)
POGZ
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
POLE
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • IUGR
  • severe growth failure of prenatal onset
  • FILS syndrome, 615139
  • facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
Tags
Green Green List (high evidence)
POLG2
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528
  • Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Tags
Green Green List (high evidence)
POLR1A
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Acrofacial dysostosis, Cincinnati type, OMIM:616462
  • Acrofacial dysostosis Cincinnati type, MONDO:0014651
Tags
Green Green List (high evidence)
POLR1B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Treacher-Collins syndrome 4 OMIM:618939
Tags
Green Green List (high evidence)
POLR1C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TREACHER COLLINS SYNDROME TYPE 3
Tags
Green Green List (high evidence)
POLR1D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TREACHER COLLINS SYNDROME TYPE 2
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
  • Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090
Tags
Green Green List (high evidence)
POLR3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381
Tags
Green Green List (high evidence)
POMGNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3
Tags
Green Green List (high evidence)
POMGNT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WALKER WARBERG SYNDROME
Tags
Green Green List (high evidence)
POMK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249
Tags
Green Green List (high evidence)
POMT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1
Tags
Green Green List (high evidence)
POMT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2
Tags
Green Green List (high evidence)
POP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Anauxetic dysplasia 2, OMIM:617396
  • Anauxetic dysplasia 2, MONDO:0054561
Tags
Green Green List (high evidence)
POR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Tags
Green Green List (high evidence)
PORCN
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FOCAL DERMAL HYPOPLASIA
Tags
Green Green List (high evidence)
POU1F1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
Tags
Green Green List (high evidence)
PPIB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Osteogenesis imperfecta, type IX 259440
Tags
Green Green List (high evidence)
PPP1CB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Rasopathy with developmental delay, short stature and sparse slow-growing hair
Tags
Green Green List (high evidence)
PPP2R1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
PPP2R5D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
PQBP1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RENPENNING S(YNDROME 1
Tags
Green Green List (high evidence)
PRG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250
Tags
Green Green List (high evidence)
PRIM1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephalic primordial dwarfism, MONDO:0017950
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Tags
Green Green List (high evidence)
PRKACA
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cardioacrofacial dysplasia 1, OMIM:619142
Tags
Green Green List (high evidence)
PRKACB
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cardioacrofacial dysplasia 2, OMIM:619143
Tags
Green Green List (high evidence)
PRKAG2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, hypertrophic 6, OMIM:600858
  • Hypertrophic cardiomyopathy 6, MONDO:0010946
  • Glycogen storage disease of heart, lethal congenital, OMIM:261740
  • Lethal congenital glycogen storage disease of heart, MONDO:0009867
Tags
Green Green List (high evidence)
PRKAR1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACRODYSOSTOSIS
Tags
Green Green List (high evidence)
PRKD1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Syndromic congenital heart defects
Tags
  • watchlist_moi
Green Green List (high evidence)
PRMT7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pseudohypoparathyroidism-like disorder
Tags
Green Green List (high evidence)
PRRX1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Agnathia-otocephaly complex, OMIM:202650
Tags
Green Green List (high evidence)
PRSS56
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA ISOLATED TYPE 6
Tags
Green Green List (high evidence)
PRUNE1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490
Tags
Green Green List (high evidence)
PSAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATYPICAL KRABBE DISEASE
Tags
Green Green List (high evidence)
PSAT1
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neu-Laxova syndrome 2, OMIM:616038
  • Neu-Laxova syndrome 2, MONDO:0014466
Tags
Green Green List (high evidence)
PSPH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PHOSPHOSERINE PHOSPHATASE DEFICIENCY
  • NEU-LAXOVA
Tags
Green Green List (high evidence)
PTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Holoprosencephaly 7, OMIM:610828
Tags
Green Green List (high evidence)
PTDSS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Tags
Green Green List (high evidence)
PTF1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
  • PANCREATIC AGENESIS
Tags
Green Green List (high evidence)
PTH1R
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHONDRODYSPLASIA BLOMSTRAND TYPE
  • EIKEN SKELETAL DYSPLASIA
  • JANSEN METAPHYSEAL CHONDRODYSPLASIA
  • PRIMARY FAILURE OF TOOTH ERUPTION
Tags
Green Green List (high evidence)
PTHLH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRACHYDACTYLY, TYPE E2
  • CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Tags
Green Green List (high evidence)
PTPN11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEOPARD SYNDROME TYPE 1
  • NOONAN SYNDROME 1
Tags
Green Green List (high evidence)
PTPN14
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Choanal atresia and lymphedema, OMIM:613611
  • Lymphedema-posterior choanal atresia syndrome, MONDO:0013324
Tags
Green Green List (high evidence)
PTS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Tags
Green Green List (high evidence)
PUF60
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PUF60 syndrome
Tags
Green Green List (high evidence)
PYCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
Tags
Green Green List (high evidence)
PYGM
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • McArdle disease, OMIM:232600
  • Glycogen storage disease V, MONDO:0009293
Tags
Green Green List (high evidence)
QRICH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • QRICH1 syndrome
Tags
Green Green List (high evidence)
QRSL1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 40, OMIM:618835
Tags
Green Green List (high evidence)
RAB11A
6 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • microcephaly, HP:0000252
  • brain anomalies
  • Intellectual disability, HP:0001249
Tags
  • gene-checked
Green Green List (high evidence)
RAB18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WARBURG MICRO SYNDROME TYPE 3
Tags
Green Green List (high evidence)
RAB23
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Tags
Green Green List (high evidence)
RAB33B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Smith-McCort dysplasia 2, OMIM:615222
  • Smith-McCort dysplasia 2, MONDO:0014087
Tags
Green Green List (high evidence)
RAB3GAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WARBURG MICRO SYNDROME TYPE 1
Tags
Green Green List (high evidence)
RAB3GAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MARTSOLF SYNDROME
Tags
Green Green List (high evidence)
RAC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental Disorders with Diverse Phenotypes
Tags
Green Green List (high evidence)
RAC3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577
Tags
Green Green List (high evidence)
RAD21
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COHESINOPATHY
Tags
Green Green List (high evidence)
RAF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN SYNDROME 5
Tags
Green Green List (high evidence)
RAI1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SMITH-MAGENIS SYNDROME
Tags
Green Green List (high evidence)
RAPSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FETAL AKINESIA DEFORMATION SEQUENCE
  • CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Tags
Green Green List (high evidence)
RARB
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Tags
Green Green List (high evidence)
RARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 6
Tags
Green Green List (high evidence)
RASA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PARKES WEBER SYNDROME
  • CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
Tags
Green Green List (high evidence)
RAX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microphthalmia, isolated 3, OMIM:611038
  • isolated microphthalmia 3, MONDO:0012604
Tags
Green Green List (high evidence)
RBBP8
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Seckel syndrome 2, OMIM:606744
  • Seckel syndrome 2, MONDO:0011715
Tags
Green Green List (high evidence)
RBM10
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TARP syndrome, OMIM:311900
  • Tarp syndrome, MONDO:0010711
Tags
Green Green List (high evidence)
RBM8A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Tags
Green Green List (high evidence)
RBPJ
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADAMS OLIVER SYNDROME
Tags
Green Green List (high evidence)
RECQL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Baller-Gerold syndrome, OMIM:218600
  • RAPADILINO syndrome, OMIM:266280
  • Rothmund-Thomson syndrome, type 2, OMIM:268400
Tags
Green Green List (high evidence)
RELN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LISSENCEPHALY 2
Tags
Green Green List (high evidence)
REN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Renal tubular dysgenesis 267430
Tags
Green Green List (high evidence)
RERE
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Phenocopy of Proximal 1p36 Deletions
Tags
Green Green List (high evidence)
RET
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RENAL AGENESIS
  • MULTIPLE ENDOCRINE NEOPLASIA IIB
Tags
Green Green List (high evidence)
RFT1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital disorder of glycosylation, type In, OMIM:612015
  • RFT1-CDG, MONDO:0012783
Tags
Green Green List (high evidence)
RFX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MARTINEZ-FRIAS SYNDROME
Tags
Green Green List (high evidence)
RIPK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Tags
Green Green List (high evidence)
RIT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN SYNDROME 8
Tags
Green Green List (high evidence)
RMND1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, OMIM:614922
Tags
Green Green List (high evidence)
RMRP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARTILAGE-HAIR HYPOPLASIA
Tags
Green Green List (high evidence)
RNASEH2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 4
Tags
Green Green List (high evidence)
RNASEH2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Aicardi-Goutieres syndrome 2, OMIM:610181
Tags
Green Green List (high evidence)
RNASEH2C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 3
Tags
Green Green List (high evidence)
RNASET2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
Tags
Green Green List (high evidence)
RNU4ATAC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Tags
Green Green List (high evidence)
ROBO1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Tetralogy of Fallot and septal defects
  • Neurooculorenal syndrome, OMIM:620305
Tags
  • Q1_24_MOI
Green Green List (high evidence)
ROBO3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
  • Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790
Tags
Green Green List (high evidence)
ROGDI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KOHLSCHAYTTER-TANZ SYNDROME
Tags
Green Green List (high evidence)
ROR2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Brachydactyly, type B1, OMIM:113000 (AD)
  • Robinow syndrome, autosomal recessive, OMIM:268310 (AR)
Tags
Green Green List (high evidence)
RPGRIP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MECKEL SYNDROME TYPE 5
  • COACH SYNDROME
  • JOUBERT SYNDROME TYPE 7
Tags
Green Green List (high evidence)
RPL10
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, syndromic, 35, OMIM:300998
  • Intellectual disability, X-linked, syndromic, 35, MONDO:0030908
Tags
Green Green List (high evidence)
RPL11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Diamond-Blackfan anemia 7 612562
  • Diamond-Blackfan anemia with cleft palate and abnormal thumbs
Tags
Green Green List (high evidence)
RPL35A
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 5, OMIM:612528
  • Diamond-Blackfan anemia 5, MONDO:0012925
Tags
Green Green List (high evidence)
RPL5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 6 612561
Tags
Green Green List (high evidence)
RPS10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 9 613308
Tags
Green Green List (high evidence)
RPS17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 4 612527
Tags
Green Green List (high evidence)
RPS19
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RPS19-RELATED DIAMOND-BLACKFAN ANEMIA
Tags
Green Green List (high evidence)
RPS24
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-blackfan anemia 3, OMIM:610629
  • Diamond-Blackfan anemia 3, MONDO:0012529
Tags
Green Green List (high evidence)
RPS26
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 10 613309
Tags
Green Green List (high evidence)
RPS6KA3
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Coffin-Lowry syndrome, OMIM:303600
Tags
Green Green List (high evidence)
RPS7
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia 8, OMIM:612563
  • Diamond-Blackfan anemia 8, MONDO:0012939
Tags
Green Green List (high evidence)
RRAS2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Noonan syndrome 12, OMIM:618624
  • Noonan syndrome 12, MONDO:0032839
Tags
Green Green List (high evidence)
RRM2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial depletion syndrome
Tags
Green Green List (high evidence)
RSPH4A
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Ciliary dyskinesia, primary 612649
Tags
Green Green List (high evidence)
RSPH9
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Ciliary dyskinesia, primary 612650
Tags
Green Green List (high evidence)
RTEL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
Tags
Green Green List (high evidence)
RTTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BILATERAL DIFFUSE POLYMICROGYRIA
Tags
Green Green List (high evidence)
RUNX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CLEIDOCRANIAL DYSPLASIA
Tags
Green Green List (high evidence)
RYR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Tags
Green Green List (high evidence)
SALL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TOWNES-BROCKS SYNDROME
Tags
Green Green List (high evidence)
SALL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DUANE-RADIAL RAY SYNDROME
  • ACRO-RENAL-OCULAR SYNDROME
Tags
Green Green List (high evidence)
SAMD9
1 review
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICARDI-GOUTIERES SYNDROME
Tags
Green Green List (high evidence)
SATB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NONSPECIFIC SEVERE ID
  • SYNDROMAL PIERRE ROBIN SEQUENCE
  • CLEFT PALATE ISOLATED
Tags
Green Green List (high evidence)
SBDS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHWACHMAN-DIAMOND SYNDROME
Tags
Green Green List (high evidence)
SC5D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LATHOSTEROLOSIS
Tags
Green Green List (high evidence)
SCARF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VAN DEN ENDE-GUPTA SYNDROME
Tags
Green Green List (high evidence)
SCLT1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX
  • Senior-Løken Syndrome
Tags
  • gene-checked
Green Green List (high evidence)
SCN1A
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dravet syndrome, OMIM:607208
  • Arthrogryposis multiplex congenita
Tags
Green Green List (high evidence)
SCN2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NONSPECIFIC SEVERE ID
  • INFANTILE EPILEPTIC ENCEPHALOPATHY
  • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
Tags
Green Green List (high evidence)
SCN4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PARAMYOTONIA CONGENITA OF VON EULENBURG
  • HYPERKALEMIC PERIODIC PARALYSIS TYPE 1
  • HYPOKALEMIC PERIODIC PARALYSIS
Tags
Green Green List (high evidence)
SCO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Tags
Green Green List (high evidence)
SCUBE3
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
  • short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
Tags
Green Green List (high evidence)
SDCCAG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SENIOR-LOKEN SYNDROME 7
Tags
Green Green List (high evidence)
SDR9C7
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Tags
Green Green List (high evidence)
SEC23B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dyserythropoietic anemia, congenital, type II, OMIM:224100
Tags
Green Green List (high evidence)
SEC24D
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SYNDROMIC OSTEOGENESIS IMPERFECTA
Tags
Green Green List (high evidence)
SEPSECS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 2D
Tags
Green Green List (high evidence)
SERPINF1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type VI, OMIM:613982
  • Osteogenesis imperfecta type 6, MONDO:0013515
Tags
Green Green List (high evidence)
SERPINH1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type X, OMIM:613848
  • Osteogenesis imperfecta type 10, MONDO:0013459
Tags
Green Green List (high evidence)
SETBP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY
  • SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Tags
Green Green List (high evidence)
SETD2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • microcephaly
  • profound intellectual disability
  • congenital anomalies
  • dysmorphic facial features
Tags
Green Green List (high evidence)
SETD5
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Tags
Green Green List (high evidence)
SF3B4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
Tags
Green Green List (high evidence)
SGCG
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700
  • Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677
Tags
Green Green List (high evidence)
SGPL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Nephrotic syndrome type 14, 617575
Tags
Green Green List (high evidence)
SH3PXD2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRANK-TER HAAR SYNDROME
Tags
Green Green List (high evidence)
SHANK3
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Phelan-McDermid syndrome, OMIM:606232
  • Phelan-McDermid syndrome, MONDO:0011652
Tags
Green Green List (high evidence)
SHH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOLOPROSENCEPHALY TYPE 3
  • TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME
  • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5
  • SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Tags
Green Green List (high evidence)
SHOC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
Tags
Green Green List (high evidence)
SHOX
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Langer mesomelic dysplasia, OMIM:249700 (PR)
  • Leri-Weill dyschondrosteosis, OMIM:127300 (PD)
  • Short stature, idiopathic familial, OMIM:300582
Tags
  • Pseudoautosomal region 1
Green Green List (high evidence)
SIK3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Krakow type, 618162
Tags
Green Green List (high evidence)
SIL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Green Green List (high evidence)
SIX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOLOPROSENCEPHALY
Tags
Green Green List (high evidence)
SIX5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRANCHIOOTORENAL SYNDROME TYPE 2
Tags
Green Green List (high evidence)
SIX6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927
Tags
Green Green List (high evidence)
SKI
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Tags
Green Green List (high evidence)
SLC10A7
1 review
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)
SLC12A1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Bartter syndrome, type 1, OMIM:601678
  • Bartter disease type 1, MONDO:0100344
Tags
  • monogenic-polygenic
Green Green List (high evidence)
SLC12A6
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068
  • Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Tags
Green Green List (high evidence)
SLC13A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE
Tags
Green Green List (high evidence)
SLC16A2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Tags
Green Green List (high evidence)
SLC17A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SALLA DISEASE
  • INFANTILE SIALIC ACID STORAGE DISORDER
Tags
Green Green List (high evidence)
SLC18A3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
  • Congenital myasthenic syndrome 21, MONDO:0014983
Tags
Green Green List (high evidence)
SLC20A1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Bladder-Exstrophy-Epispadias Complex (BEEC)
Tags
  • gene-checked
Green Green List (high evidence)
SLC25A19
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephaly, Amish type, OMIM:607196
  • Amish lethal microcephaly, MONDO:0011790
Tags
Green Green List (high evidence)
SLC25A20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Tags
Green Green List (high evidence)
SLC25A24
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Fontaine progeroid syndrome, OMIM
  • 612289
  • Fontaine progeroid syndrome, MONDO:0012853
Tags
Green Green List (high evidence)
SLC25A38
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Tags
Green Green List (high evidence)
SLC25A46
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia, type 1E, OMIM:619303
Tags
Green Green List (high evidence)
SLC26A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
  • ACHONDROGENESIS TYPE 1B
  • ATELOSTEOGENESIS TYPE 2
  • DIASTROPHIC DYSPLASIA
Tags
Green Green List (high evidence)
SLC26A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Chloride diarrhea, congenital, Finnish type 214700
Tags
Green Green List (high evidence)
SLC27A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ICHTHYOSIS PREMATURITY SYNDROME
Tags
Green Green List (high evidence)
SLC29A3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
  • H syndrome, MONDO:0011273
Tags
Green Green List (high evidence)
SLC2A10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTERIAL TORTUOSITY SYNDROME
Tags
Green Green List (high evidence)
SLC33A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Tags
Green Green List (high evidence)
SLC35A2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION
Tags
Green Green List (high evidence)
SLC35C1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C
Tags
Green Green List (high evidence)
SLC35D1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SCHNECKENBECKEN DYSPLASIA
Tags
Green Green List (high evidence)
SLC39A8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability with Cerebellar Atrophy
Tags
Green Green List (high evidence)
SLC5A7
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
  • Congenital myasthenic syndrome 20, MONDO:0014939
Tags
Green Green List (high evidence)
SLC6A9
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Glycine encephalopathy with normal serum glycine, OMIM:617301
  • Arthrogryposis, MONDO:0008779
Tags
Green Green List (high evidence)
SLX4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA COMPLEMENTATION GROUP P
Tags
Green Green List (high evidence)
SMAD3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SMAD3-RELATED LOEYS-DIETZ SYNDROME
Tags
Green Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYHRE SYNDROME
  • JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
  • JUVENILE POLYPOSIS SYNDROME
Tags
Green Green List (high evidence)
SMARCA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NICOLAIDES-BARAITSER SYNDROME
  • COFFIN SIRIS
Tags
Green Green List (high evidence)
SMARCA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RHABDOID TUMOR PREDISPOSITION SYNDROME 2
  • COFFIN SIRIS
Tags
Green Green List (high evidence)
SMARCB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RHABDOID PREDISPOSITION SYNDROME 1
  • ?COFFIN-SIRIS SYNDROME
Tags
Green Green List (high evidence)
SMARCC1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital hydrocephalus
  • Aqueductal stenosis
  • Septal agenesis
  • Corpus callosum abnormalities
  • {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
Tags
Green Green List (high evidence)
SMARCE1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Coffin-Siris syndrome 5, OMIM:616938
Tags
Green Green List (high evidence)
SMC1A
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cornelia de Lange syndrome 2, OMIM:300590
  • Cornelia de Lange syndrome 2, MONDO:0010370
  • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Tags
Green Green List (high evidence)
SMC3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORNELIA DE LANGE SYNDROME TYPE 3
Tags
Green Green List (high evidence)
SMCHD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Isolated Arhinia/Bosma Arhinia syndrome
Tags
Green Green List (high evidence)
SMG9
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SMG9 Multiple Congenital Anomaly Syndrome
  • Heart and brain malformation syndrome, 616920
Tags
Green Green List (high evidence)
SMN1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Spinal muscular atrophy 253550
  • Spinal muscular atrophy 271150
  • Spinal muscular atrophy 253400
  • Spinal muscular atrophy 253300
Tags
Green Green List (high evidence)
SMO
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Curry-Jones Syndrome
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
SMOC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OPHTHALMOACROMELIC SYNDROME
Tags
Green Green List (high evidence)
SMPD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NIEMANN-PICK DISEASE TYPE B
  • NIEMANN-PICK DISEASE TYPE A
Tags
Green Green List (high evidence)
SMPD4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622
  • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838
Tags
Green Green List (high evidence)
SMS
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583
  • Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Tags
Green Green List (high evidence)
SNORD118
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Leukoencephalopathy with cerebral calcification & cysts
Tags
Green Green List (high evidence)
SNRPB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRO-COSTO-MANDIBULAR SYNDROME
Tags
Green Green List (high evidence)
SNX10
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 8, OMIM:615085
  • Autosomal recessive osteopetrosis 8, MONDO:0014040
Tags
Green Green List (high evidence)
SNX14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Tags
Green Green List (high evidence)
SON
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability, Congenital Malformations, and Failure to Thrive
Tags
Green Green List (high evidence)
SOS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN SYNDROME 4
Tags
Green Green List (high evidence)
SOS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Noonan syndrome 9, 616559
Tags
Green Green List (high evidence)
SOST
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • SOST-Related Sclerosing Bone Dysplasias 122860
  • Sclerosteosis 1, 269500
  • Craniodiaphyseal dysplasia, autosomal dominant, 122860
Tags
Green Green List (high evidence)
SOX10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
  • KALLMANN SYNDROME WITH DEAFNESS
  • YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
  • WAARDENBURG SYNDROME TYPE 4C
  • WAARDENBURG SYNDROME TYPE 2E
Tags
Green Green List (high evidence)
SOX17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VESICOURETERAL REFLUX TYPE 3
Tags
Green Green List (high evidence)
SOX18
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073
  • Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823
  • Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914
Tags
Green Green List (high evidence)
SOX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AEG SYNDROME
  • MICROPHTHALMIA SYNDROMIC TYPE 3
Tags
Green Green List (high evidence)
SOX3
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
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)
SOX6
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tolchin-Le Caignec syndrome, OMIM:618971
  • Tolchin-Le Caignec syndrome, MONDO:0033544
Tags
Green Green List (high evidence)
SOX9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PIERRE ROBIN SEQUENCE
  • CAMPOMELIC DYSPLASIA
Tags
Green Green List (high evidence)
SP7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteogenesis imperfecta, type XII, OMIM:613849
  • Osteogenesis imperfecta type 12, MONDO:0013460
Tags
Green Green List (high evidence)
SPAG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.
Tags
Green Green List (high evidence)
SPARC
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Osteogenesis imperfecta, type XVII, OMIM:616507
  • Osteogenesis imperfecta type 17, MONDO:0014672
Tags
Green Green List (high evidence)
SPATA5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
Tags
  • new-gene-name
Green Green List (high evidence)
SPECC1L
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ?Facial clefting, oblique, 1, OMIM:600251
  • Tessier number 4 facial cleft, MONDO:0010850
  • Hypertelorism, Teebi type, OMIM:145420
  • Hypertelorism, Teebi type, MONDO:0007780
  • Opitz GBBB syndrome, type II, OMIM:145410
  • Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779
Tags
Green Green List (high evidence)
SPEG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY
Tags
Green Green List (high evidence)
SPG11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPASTIC PARAPLEGIA-11
Tags
Green Green List (high evidence)
SPRED1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEGIUS SYNDROME
Tags
Green Green List (high evidence)
SRCAP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FLOATING-HARBOR SYNDROME
Tags
Green Green List (high evidence)
SRD5A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias 264600
Tags
Green Green List (high evidence)
SRD5A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION
Tags
Green Green List (high evidence)
SRY
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 46XY SEX REVERSAL 1
Tags
  • y-chromosome
Green Green List (high evidence)
ST14
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11, OMIM:602400
  • Autosomal recessive congenital ichthyosis 11, MONDO:0011218
Tags
Green Green List (high evidence)
STAC3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, congenital, Baily-Bloch, OMIM:255995
  • Bailey-Bloch congenital myopathy, MONDO:0009722
Tags
Green Green List (high evidence)
STAG2
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
  • STAG2-related developmental delay with microcephaly and congenital anomalies
Tags
Green Green List (high evidence)
STAMBP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephaly-capillary malformation syndrome, OMIM:614261
Tags
Green Green List (high evidence)
STAR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA
Tags
Green Green List (high evidence)
STIL
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, OMIM:612703
  • Microcephaly 7, primary, autosomal recessive, MONDO:0012989
Tags
Green Green List (high evidence)
STRA6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA SYNDROMIC TYPE 9
Tags
Green Green List (high evidence)
STRADA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Tags
Green Green List (high evidence)
SUCLG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FATAL INFANTILE LACTIC ACIDOSIS
Tags
Green Green List (high evidence)
SUFU
3 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Joubert syndrome 32, OMIM: 617757
  • Joubert Syndrome with Cranio-facial and Skeletal Defects
Tags
Green Green List (high evidence)
SULT2B1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 14, OMIM:617571
  • Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Tags
Green Green List (high evidence)
SUMF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Tags
Green Green List (high evidence)
SUZ12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Weaver-like overgrowth syndrome
  • Imagawa-Matsumoto syndrome #618786
Tags
Green Green List (high evidence)
SYNE1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
  • Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Tags
Green Green List (high evidence)
TAB2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital heart defects, nonsyndromic, 2, OMIM:614980
Tags
Green Green List (high evidence)
TAF1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Tags
Green Green List (high evidence)
TALDO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Transaldolase deficiency, 606003
Tags
Green Green List (high evidence)
TAPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
Tags
Green Green List (high evidence)
TAZ
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARTH SYNDROME
Tags
  • new-gene-name
Green Green List (high evidence)
TBC1D20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Warburg micro syndrome 4 615663
  • Warburg micro syndrome 4
Tags
  • watchlist
Green Green List (high evidence)
TBC1D23
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Non-degenerative Pontocerebellar Hypoplasia
Tags
Green Green List (high evidence)
TBC1D24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
  • DOORS SYNDROME
  • NON SYNDROMAL HEARING LOSS
Tags
Green Green List (high evidence)
TBC1D32
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OFD IX
Tags
  • gene-checked
Green Green List (high evidence)
TBCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Tags
Green Green List (high evidence)
TBCE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
  • HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
  • KENNY-CAFFEY SYNDROME TYPE 1
Tags
  • watchlist
Green Green List (high evidence)
TBCK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe Infantile Syndromic Encephalopathy
Tags
Green Green List (high evidence)
TBL1XR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual disability with autism spectrum disorder
  • Pierpont syndrome
Tags
  • missense
Green Green List (high evidence)
TBX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 22Q11.2 DELETION SYNDROME
Tags
Green Green List (high evidence)
TBX15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature
  • Cousin Syndrome
Tags
Green Green List (high evidence)
TBX18
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
Tags
Green Green List (high evidence)
TBX20
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATRIAL SEPTAL DEFECT TYPE 4
Tags
Green Green List (high evidence)
TBX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ULNAR-MAMMARY SYNDROME
Tags
Green Green List (high evidence)
TBX4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Tags
Green Green List (high evidence)
TBX5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOLT-ORAM SYNDROME
Tags
Green Green List (high evidence)
TBX6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Spondylocostal dysostosis 5 122600
Tags
Green Green List (high evidence)
TCF12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORONAL CRANIOSYNOSTOSIS
Tags
Green Green List (high evidence)
TCF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PITT-HOPKINS SYNDROME
Tags
Green Green List (high evidence)
TCIRG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Osteopetrosis, infantile malignant 259700
Tags
Green Green List (high evidence)
TCOF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TREACHER COLLINS SYNDROME TYPE 1
Tags
Green Green List (high evidence)
TCTEX1D2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
  • Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
  • Jeune asphyxiating thoracic dystrophy
  • JATD
Tags
  • new-gene-name
Green Green List (high evidence)
TCTN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Joubert syndrome 13 614173
  • JOUBERT SYNDROME AND RELATED DISORDERS
Tags
Green Green List (high evidence)
TCTN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME AND RELATED DISORDERS
Tags
Green Green List (high evidence)
TCTN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MOHR-MAJEWSKI SYNDROME
Tags
Green Green List (high evidence)
TELO2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • You-Hoover-Fong syndrome, OMIM:616954
  • TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848
Tags
Green Green List (high evidence)
TENM3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microphthalmia, syndromic 15, OMIM:615145
  • ?Microphthalmia, isolated, with coloboma 9, OMIM:615145
  • Microphthalmia, isolated, with coloboma 9, MONDO:0014059
Tags
Green Green List (high evidence)
TFAP2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRANCHIOOCULOFACIAL SYNDROME
Tags
Green Green List (high evidence)
TFAP2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHAR SYNDROME
Tags
Green Green List (high evidence)
TGDS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATEL-MANZKE SYNDROME
Tags
Green Green List (high evidence)
TGFB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LOEYS-DIETZ SYNDROME, TYPE 4
Tags
Green Green List (high evidence)
TGFB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LOEYS-DIETZ SYNDROME
Tags
Green Green List (high evidence)
TGFBR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LOEYS-DIETZ SYNDROME TYPE 2A
  • LOEYS-DIETZ SYNDROME TYPE 1A
  • AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5
Tags
Green Green List (high evidence)
TGFBR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LOEYS-DIETZ SYNDROME
  • TGFBR2-RELATED LOEYS-DIETZ SYNDROME
Tags
Green Green List (high evidence)
TGIF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Holoprosencephaly 4 142946
  • HOLOPROSENCEPHALY
Tags
Green Green List (high evidence)
TGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 242300
Tags
Green Green List (high evidence)
THOC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Beaulieu-Boycott-Innes syndrome
Tags
Green Green List (high evidence)
THRA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Tags
Green Green List (high evidence)
TINF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Tags
Green Green List (high evidence)
TK2
5 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Tags
Green Green List (high evidence)
TLL1
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect 6, OMIM:613087
Tags
Green Green List (high evidence)
TMCO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Tags
Green Green List (high evidence)
TMEM107
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Joubert syndrome 29, OMIM:617562
  • Meckel syndrome 13, OMIM:617562
  • Meckel syndrome 13, MONDO:0033044
  • Orofaciodigital syndrome XVI, OMIM:617563
  • Orofaciodigital syndrome 16, MONDO:0033045
Tags
Green Green List (high evidence)
TMEM138
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Joubert syndrome 16 614465
Tags
Green Green List (high evidence)
TMEM165
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
Tags
Green Green List (high evidence)
TMEM216
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Meckel syndrome 2, OMIM:603194
  • Meckel syndrome, type 2, MONDO:0011296
Tags
Green Green List (high evidence)
TMEM231
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Joubert syndrome 20 614970
  • Meckel syndrome 11 615397
Tags
Green Green List (high evidence)
TMEM237
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME 14
Tags
Green Green List (high evidence)
TMEM260
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
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)
TMEM38B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteogenesis imperfecta, type XIV, OMIM:615066
  • Osteogenesis imperfecta type 14, MONDO:0014029
Tags
Green Green List (high evidence)
TMEM5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE COBBLESTONE LISSENCEPHALY
Tags
  • new-gene-name
Green Green List (high evidence)
TMEM67
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME TYPE 6
  • MECKEL SYNDROME TYPE 3
  • COACH SYNDROM
  • NEPHRONOPHTHISIS TYPE 11
Tags
Green Green List (high evidence)
TMEM70
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • IUGR
  • Oligohydramnios
  • Anhydramnios
  • Cardiomyopathy
Tags
Green Green List (high evidence)
TMEM94
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
Tags
  • gene-checked
Green Green List (high evidence)
TMEM98
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nanophthalmos 4, OMIM:615972
  • Nanophthalmos 4, MONDO:0014426
Tags
Green Green List (high evidence)
TMX2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
Tags
Green Green List (high evidence)
TNNI2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 2B 601680
Tags
Green Green List (high evidence)
TNNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Nemaline myopathy, Amish type 605355
Tags
Green Green List (high evidence)
TNNT3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis, distal, type 2B2, OMIM:618435
  • Arthrogryposis, distal, type 2B2, MONDO:0032750
Tags
Green Green List (high evidence)
TOE1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pontocerebellar hypoplasia, type 7, OMIM:614969
  • Pontocerebellar hypoplasia type 7, MONDO:0013993
Tags
Green Green List (high evidence)
TOP3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Bloom Syndrome like Disorder
Tags
Green Green List (high evidence)
TOR1A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita 5, OMIM:618947
  • Arthrogryposis multiplex congenita 5, MONDO:0100218
Tags
Green Green List (high evidence)
TP63
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADULT syndrome, OMIM:103285
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292
  • Hay-Wells syndrome, OMIM:106260
  • Limb-mammary syndrome, OMIM:603543
  • Orofacial cleft 8, OMIM:618149
  • Rapp-Hodgkin syndrome, OMIM:129400
  • Split-hand/foot malformation 4, OMIM:605289
Tags
Green Green List (high evidence)
TPM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS, DISTAL, TYPE 1
  • Arthrogryposis multiplex congenita, distal, type 1, 108120
  • Arthrogryposis, distal, type 2B, 601680
Tags
Green Green List (high evidence)
TPM3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Congenital fiber-type disproportion myopathy 255310
Tags
Green Green List (high evidence)
TRAF3IP1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Senior-Loken syndrome 9
Tags
Green Green List (high evidence)
TRAF7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental Delay, Congenital Anomalies, and Dysmorphic Features
  • Cardiac, facial, and digital anomalies with developmental delay, 618164
Tags
Green Green List (high evidence)
TRAIP
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Seckel syndrome 9
Tags
Green Green List (high evidence)
TRAP1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CAKUT
  • VACTERL
Tags
  • gene-checked
Green Green List (high evidence)
TRAPPC12
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hydrocephaly
  • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Tags
Green Green List (high evidence)
TRAPPC9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13
Tags
Green Green List (high evidence)
TREX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Tags
Green Green List (high evidence)
TRIM37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULIBREY NANISM
Tags
Green Green List (high evidence)
TRIP11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACHONDROGENESIS TYPE 1A
Tags
Green Green List (high evidence)
TRIP12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TRIP12-related intellectual disability with/without autism spectrum disorder
Tags
Green Green List (high evidence)
TRIP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209
  • Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
  • ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066
  • Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
Tags
Green Green List (high evidence)
TRMT10A
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1
Tags
Green Green List (high evidence)
TRPS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1
Tags
Green Green List (high evidence)
TRPV4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METATROPIC DYSPLASIA
  • SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Tags
Green Green List (high evidence)
TRPV6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Transient Neonatal Hyperparathyroidism
  • Hyperparathyroidism, transient neonatal, 618188
Tags
Green Green List (high evidence)
TSC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TUBEROUS SCLEROSIS TYPE 1
Tags
Green Green List (high evidence)
TSC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LYMPHANGIOLEIOMYOMATOSIS
  • TUBEROUS SCLEROSIS TYPE 2
Tags
Green Green List (high evidence)
TSEN2
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Tags
Green Green List (high evidence)
TSEN34
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Tags
Green Green List (high evidence)
TSEN54
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ?Pontocerebellar hypoplasia type 5, OMIM:610204
  • Pontocerebellar hypoplasia type 2A, OMIM:277470
  • Pontocerebellar hypoplasia type 4, OMIM:225753
Tags
Green Green List (high evidence)
TSFM
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 3
Tags
Green Green List (high evidence)
TTC21B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Tags
Green Green List (high evidence)
TTC37
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TRICHOHEPATOENTERIC SYNDROME
Tags
  • new-gene-name
Green Green List (high evidence)
TTC7A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTESTINAL ATRESIA, MULTIPLE
Tags
Green Green List (high evidence)
TTC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETINITIS PIGMENTOSA TYPE 51
  • BARDET-BIEDL SYNDROME TYPE 8
Tags
Green Green List (high evidence)
TTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • congenital titinopathy with arthrogryposis
Tags
Green Green List (high evidence)
TUBA1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
  • LISSENCEPHALY TYPE 3
Tags
Green Green List (high evidence)
TUBB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
  • Circumferential Skin Creases Kunze Type
Tags
Green Green List (high evidence)
TUBB2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
  • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Tags
Green Green List (high evidence)
TUBB2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Tags
Green Green List (high evidence)
TUBB3
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
  • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
Tags
Green Green List (high evidence)
TUBB4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Tags
Green Green List (high evidence)
TUBG1
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, OMIM:615412
Tags
Green Green List (high evidence)
TUBGCP4
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Tags
Green Green List (high evidence)
TUBGCP6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION
Tags
Green Green List (high evidence)
TWIST1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SAETHRE-CHOTZEN SYNDROME
  • CRANIOSYNOSTOSIS, TYPE 1
Tags
Green Green List (high evidence)
TWIST2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ablepharon-macrostomia syndrome, 200110
  • Barber-Say syndrome, 209885
Tags
  • watchlist
Green Green List (high evidence)
TXNDC15
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Meckel Gruber syndrome
Tags
  • gene-checked
Green Green List (high evidence)
TXNL4A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BURN MCKEOWN SYNDROME
Tags
Green Green List (high evidence)
UBA1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile 301830
Tags
Green Green List (high evidence)
UBE2T
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP T
Tags
Green Green List (high evidence)
UBE3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BLEPHAROPHIMOSIS-MENTAL RETARDATION
Tags
Green Green List (high evidence)
UBR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOHANSON-BLIZZARD SYNDROME
Tags
Green Green List (high evidence)
UMPS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OROTIC ACIDURIA TYPE 1
Tags
Green Green List (high evidence)
UQCRFS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Tags
Green Green List (high evidence)
UROS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL ERYTHROPOIETIC PORPHYRIA
Tags
Green Green List (high evidence)
USP18
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pseudo-TORCH syndrome 2, 617397
Tags
  • treatable
Green Green List (high evidence)
USP9X
4 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, X-LINKED 99
Tags
Green Green List (high evidence)
VAMP1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 25
Tags
Green Green List (high evidence)
VEGFC
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 4
Tags
Green Green List (high evidence)
VIPAS39
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
Tags
Green Green List (high evidence)
VLDLR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1
Tags
Green Green List (high evidence)
VPS13B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COHEN SYNDROME
Tags
Green Green List (high evidence)
VPS33B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Tags
Green Green List (high evidence)
VPS53
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851
  • Progressive cerebella-cerebral atrophy type 2
Tags
Green Green List (high evidence)
VRK1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 1
Tags
Green Green List (high evidence)
VSX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES
  • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3
  • MICROPHTHALMIA ISOLATED TYPE 2
Tags
Green Green List (high evidence)
WBP11
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227
Tags
  • gene-checked
Green Green List (high evidence)
WDPCP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 15
Tags
Green Green List (high evidence)
WDR19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ASPHYXIATING THORACIC DYSTROPHY 5
  • CRANIOECTODERMAL DYSPLASIA 4
Tags
Green Green List (high evidence)
WDR26
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Tags
Green Green List (high evidence)
WDR34
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHORT-RIB POLYDACTYLY SYNDROME TYPE III
  • SEVERE ASPHYXIATING THORACIC DYSPLASIA
Tags
  • new-gene-name
Green Green List (high evidence)
WDR35
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRANIOECTODERMAL DYSPLASIA 2
  • SHORT RIB-POLYDACTYLY SYNDROME, TYPE V
Tags
Green Green List (high evidence)
WDR60
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JEUNE SYNDROMES
  • SHORT-RIB POLYDACTYLY
Tags
  • new-gene-name
Green Green List (high evidence)
WDR62
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
Tags
Green Green List (high evidence)
WDR73
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME
  • Galloway-Mowat syndrome 1, 251300
Tags
Green Green List (high evidence)
WDR81
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967
  • Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794
Tags
Green Green List (high evidence)
WLS
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Zaki syndrome, OMIM:619648
Tags
Green Green List (high evidence)
WNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Osteogenesis imperfecta, type XV, OMIM:615220
Tags
Green Green List (high evidence)
WNT10B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Split-hand/foot malformation 6, OMIM:225300
Tags
Green Green List (high evidence)
WNT5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT
Tags
Green Green List (high evidence)
WNT7A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FUHRMANN SYNDROME
  • LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME
Tags
Green Green List (high evidence)
WNT7B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pulmonary hypoplasia
  • Diaphragmatic anomalies
  • Anophthalmia/Microphthalmia
  • Cardiac defects
Tags
  • gene-checked
Green Green List (high evidence)
WRAP53
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Tags
Green Green List (high evidence)
WT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME
  • DENYS-DRASH SYNDROME
Tags
Green Green List (high evidence)
XRCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMORDIAL DWARFISM
Tags
Green Green List (high evidence)
XYLT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DESBUQUOIS DYSPLASIA 2
Tags
Green Green List (high evidence)
XYLT2
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOOCULAR SYNDROME
Tags
Green Green List (high evidence)
YY1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
ZBTB18
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ZBTB18 syndrome
Tags
Green Green List (high evidence)
ZBTB20
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMROSE SYNDROME
Tags
Green Green List (high evidence)
ZC4H2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Wieacker-Wolff syndrome, OMIM:314580
  • Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Tags
Green Green List (high evidence)
ZEB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MOWAT-WILSON SYNDROME
Tags
Green Green List (high evidence)
ZFP57
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL
Tags
Green Green List (high evidence)
ZIC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRANIOSYNOSTOSIS 6
Tags
Green Green List (high evidence)
ZIC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOLOPROSENCEPHALY
Tags
Green Green List (high evidence)
ZIC3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
  • HETEROTAXY SYNDROME
Tags
Green Green List (high evidence)
ZMPSTE24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
  • LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED
Tags
Green Green List (high evidence)
ZMYM2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522
Tags
Green Green List (high evidence)
ZMYND10
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA-22
Tags
Green Green List (high evidence)
ZSWIM6
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACROMELIC FRONTONASAL DYSOSTOSIS
Tags
Amber Amber List (moderate evidence)
AARS
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental and epileptic encephalopathy 29, OMIM:616339
  • Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
AASS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hyperlysinemia, OMIM:238700
  • Hyperlysinemia (disease), MONDO:0009388
Tags
Amber Amber List (moderate evidence)
ABCD4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
Tags
Amber Amber List (moderate evidence)
ACO2
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INFANTILE CEREBELLAR-RETINAL DEGENERATION
Tags
Amber Amber List (moderate evidence)
ACSL4
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS
  • MENTAL RETARDATION X-LINKED TYPE 63
Tags
Amber Amber List (moderate evidence)
ACVR1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Tags
Amber Amber List (moderate evidence)
ACVRL1
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
Tags
Amber Amber List (moderate evidence)
AFF3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Skeletal dysplasia with severe neurological disease
Tags
Amber Amber List (moderate evidence)
AGT
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Renal tubular dysgenesis, OMIM:267430
Tags
Amber Amber List (moderate evidence)
AIFM1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
  • COWCHOCK SYNDROME
Tags
Amber Amber List (moderate evidence)
AIMP1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEUKODYSTROPHY, HYPOMYELINATING, 3
Tags
Amber Amber List (moderate evidence)
ALG11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALG11-CDG
Tags
Amber Amber List (moderate evidence)
ALG13
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS
  • EPILEPTIC ENCEPHALOPATHIES.
Tags
Amber Amber List (moderate evidence)
AMBRA1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neural tube defects
Tags
  • watchlist
Amber Amber List (moderate evidence)
ANKRD26
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • THROMBOCYTOPENIA 2
Tags
Amber Amber List (moderate evidence)
AP3B2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epileptic Encephalopathy with Optic Atrophy
Tags
Amber Amber List (moderate evidence)
AP4B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, OMIM:614066
  • Hereditary spastic paraplegia 47, MONDO:0013551
Tags
Amber Amber List (moderate evidence)
AP4M1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3
Tags
Amber Amber List (moderate evidence)
AP4S1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6
Tags
Amber Amber List (moderate evidence)
ARID2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARID2-Coffin-Siris like disorder
Tags
Amber Amber List (moderate evidence)
ASPH
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Traboulsi syndrome, OMIM:601552
Tags
Amber Amber List (moderate evidence)
ASXL2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental delay, macrocephaly, and dysmorphic features
Tags
Amber Amber List (moderate evidence)
ASXL3
4 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bainbridge-Ropers syndrome, OMIM:615485
  • Arthrogryposis
Tags
Amber Amber List (moderate evidence)
ATP6V1B2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ZIMMERMANN-LABAND SYNDROME
Tags
Amber Amber List (moderate evidence)
B9D1
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
Tags
Amber Amber List (moderate evidence)
BANF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NESTOR-GUILLERMO PROGERIA SYNDROME
Tags
Amber Amber List (moderate evidence)
BCL9L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Heterotaxy
Tags
Amber Amber List (moderate evidence)
BLOC1S6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HERMANSKY-PUDLAK SYNDROME 9
Tags
Amber Amber List (moderate evidence)
BOLA3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
Tags
Amber Amber List (moderate evidence)
BPTF
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Tags
Amber Amber List (moderate evidence)
C12orf57
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY
  • TEMTAMY SYNDROME
Tags
Amber Amber List (moderate evidence)
CA5A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY
Tags
Amber Amber List (moderate evidence)
CACNA1A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Amber Amber List (moderate evidence)
CACNA1D
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474
Tags
Amber Amber List (moderate evidence)
CACNA1S
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital myopathy
  • arthrogryposis
Tags
Amber Amber List (moderate evidence)
CAMK2A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
CAMK2B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
CAMTA1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
Tags
Amber Amber List (moderate evidence)
CARS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epileptic encephalopathy with complex movement disorder and regression
Tags
Amber Amber List (moderate evidence)
CCDC22
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
CCDC78
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES
Tags
Amber Amber List (moderate evidence)
CD151
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
Tags
Amber Amber List (moderate evidence)
CD96
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • C SYNDROME
Tags
Amber Amber List (moderate evidence)
CHD3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Apraxia of speech
Tags
Amber Amber List (moderate evidence)
CHD8
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTISM
Tags
Amber Amber List (moderate evidence)
CHRM3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Prune belly syndrome, OMIM:100100
  • Megacystis
Tags
Amber Amber List (moderate evidence)
CHRNB2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT
  • NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT
Tags
Amber Amber List (moderate evidence)
CLCNKB
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bartter syndrome, type 3, OMIM:607364
  • Bartter disease type 3, MONDO:0011822
  • Bartter syndrome, type 4b, digenic, OMIM:613090
  • Bartter disease type 4B, MONDO:0000909
Tags
  • monogenic-polygenic
Amber Amber List (moderate evidence)
CLMP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL SHORT BOWEL SYNDROME
Tags
Amber Amber List (moderate evidence)
CLPP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PERRAULT SYNDROME
Tags
Amber Amber List (moderate evidence)
CLTC
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mental retardation, autosomal dominant 56, OMIM:617854
  • Fetal akinesia
  • Fetal growth restriction
Tags
Amber Amber List (moderate evidence)
CNBP_CCTG
STR
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
Tags
  • Q1_24_promote_green
  • STR
Amber Amber List (moderate evidence)
CNKSR2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY WITH EPILEPSY
Tags
Amber Amber List (moderate evidence)
CNTN1
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, congenital, Compton-North, OMIM:612540
Tags
Amber Amber List (moderate evidence)
COA6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Tags
Amber Amber List (moderate evidence)
COL25A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
Tags
Amber Amber List (moderate evidence)
COX14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053
Tags
Amber Amber List (moderate evidence)
CPAMD8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Anterior Segment Dysgenesis
Tags
Amber Amber List (moderate evidence)
CRELD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HETEROTAXY SYNDROME
Tags
Amber Amber List (moderate evidence)
CSTA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE
Tags
Amber Amber List (moderate evidence)
CTDP1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME
Tags
Amber Amber List (moderate evidence)
CUX2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental epileptic encephalopathy
Tags
Amber Amber List (moderate evidence)
CYB5R3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Tags
Amber Amber List (moderate evidence)
DCC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability
Tags
Amber Amber List (moderate evidence)
DCDC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RENAL-HEPATIC CILIOPATHY
Tags
Amber Amber List (moderate evidence)
DDX6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
DEPDC5
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epilepsy
  • Structural brain malformations
Tags
Amber Amber List (moderate evidence)
DGUOK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070
  • Portal hypertension, noncirrhotic, 1, OMIM:617068
Tags
Amber Amber List (moderate evidence)
DHDDS
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epilepsy and intellectual disability
Tags
Amber Amber List (moderate evidence)
DHTKD1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
Tags
Amber Amber List (moderate evidence)
DHX30
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental Disorder
Tags
Amber Amber List (moderate evidence)
DLG4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DLG4 related intellectual disability
Tags
Amber Amber List (moderate evidence)
DMPK_CTG
STR
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Amber Amber List (moderate evidence)
DNAJC12
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Tags
Amber Amber List (moderate evidence)
DNAJC19
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
Phenotypes
  • 3-methylglutaconic aciduria, type V 610198
Tags
Amber Amber List (moderate evidence)
DNM1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Amber Amber List (moderate evidence)
DOCK7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
Tags
Amber Amber List (moderate evidence)
DPF2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Coffin Siris like disorder
Tags
Amber Amber List (moderate evidence)
DRC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILARY DYSKINEASIA
Tags
Amber Amber List (moderate evidence)
DSG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING
Tags
Amber Amber List (moderate evidence)
EDN1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AURICULOCONDYLAR SYNDROME
Tags
Amber Amber List (moderate evidence)
EEF1A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INFANTILE EPILEPTIC ENCEPHALOPATHY
Tags
Amber Amber List (moderate evidence)
ELMO2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intraosseous Vascular Malformation
Tags
Amber Amber List (moderate evidence)
EMC1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Tags
Amber Amber List (moderate evidence)
EMG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bowen-Conradi syndrome
  • Bowen-Conradi syndrome, 211180
Tags
  • watchlist
Amber Amber List (moderate evidence)
EN1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ENDOVE syndrome, limb-only type, MIM# 619217
  • ENDOVE syndrome, limb-brain type, MIM# 619218
Tags
  • watchlist
Amber Amber List (moderate evidence)
ENG
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Tags
Amber Amber List (moderate evidence)
ESAM
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Tags
  • Q4_23_expert_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
EXPH5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INHERITED SKIN FRAGILITY
Tags
Amber Amber List (moderate evidence)
FANCM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCM-RELATED FANCONI ANEMIA
  • FANCONI ANEMIA
Tags
Amber Amber List (moderate evidence)
FEZF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA
Tags
Amber Amber List (moderate evidence)
FGF9
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE SYNOSTOSES SYNDROME TYPE 3
Tags
Amber Amber List (moderate evidence)
FKBP8
3 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spina bifida, HP:0002414
  • Vertebral segmentation defects
Tags
Amber Amber List (moderate evidence)
FMN2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
FN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Spondylometaphyseal Dysplasia with Corner Fractures
Tags
Amber Amber List (moderate evidence)
FOXL2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME
Tags
Amber Amber List (moderate evidence)
FOXP2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Speech-language disorder-1, OMIM:602081
  • Structural abnormalities of basal ganglia
Tags
Amber Amber List (moderate evidence)
FOXP4
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder
  • multiple congenital abnormalities
Tags
  • gene-checked
Amber Amber List (moderate evidence)
FRMPD4
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability
Tags
Amber Amber List (moderate evidence)
FRRS1L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epileptic encephalopathy with continuous spike-and-wave during sleep
Tags
Amber Amber List (moderate evidence)
FTO
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Growth retardation, developmental delay, facial dysmorphism
Tags
Amber Amber List (moderate evidence)
FUCA1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FUCOSIDOSIS
Tags
Amber Amber List (moderate evidence)
FZD5
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microphthalmia/coloboma 11, OMIM:620731
Tags
Amber Amber List (moderate evidence)
GABRA1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • JUVENILE MYOCLONIC EPILEPSY
Tags
Amber Amber List (moderate evidence)
GABRB2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epilepsy and intellectual disability
Tags
Amber Amber List (moderate evidence)
GABRG2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3
  • GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
Tags
Amber Amber List (moderate evidence)
GFM2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 39, OMIM:618397
Tags
Amber Amber List (moderate evidence)
GFRA1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Renal agenesis
Tags
Amber Amber List (moderate evidence)
GLIS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEPHRONOPHTHISIS 7
Tags
Amber Amber List (moderate evidence)
GM2A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GM2-GANGLIOSIDOSIS TYPE AB
Tags
Amber Amber List (moderate evidence)
GNA11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital Hemangioma
Tags
  • mosaicism
Amber Amber List (moderate evidence)
GNA14
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital vascular tumours
Tags
  • mosaicism
Amber Amber List (moderate evidence)
GNAI1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854
Tags
Amber Amber List (moderate evidence)
GNAQ
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital Hemangioma
Tags
  • mosaicism
Amber Amber List (moderate evidence)
GNB5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Sinus Bradycardia and Cognitive Disability
Tags
Amber Amber List (moderate evidence)
GPAA1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Tags
Amber Amber List (moderate evidence)
GPKOW
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
Phenotypes
  • male-lethal microcephaly with intrauterine growth restriction
Tags
Amber Amber List (moderate evidence)
GPX4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
Tags
Amber Amber List (moderate evidence)
GRHL2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Tags
Amber Amber List (moderate evidence)
GRIN2D
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Tags
Amber Amber List (moderate evidence)
GSPT2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • XL INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
GTF2E2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DNA Repair-Proficient Trichothiodystrophy
Tags
Amber Amber List (moderate evidence)
HGSNAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3C
Tags
Amber Amber List (moderate evidence)
HIST1H4C
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HIST1H4C
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
HMX1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OCULOAURICULAR SYNDROME
Tags
Amber Amber List (moderate evidence)
HNRNPH2
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental Disorder in Females
Tags
Amber Amber List (moderate evidence)
HOXB1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FACIAL PARESIS, HEREDITARY CONGENITAL, 3
Tags
Amber Amber List (moderate evidence)
HPD
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TYROSINEMIA TYPE 3
  • HAWKINSINURIA
Tags
Amber Amber List (moderate evidence)
IGFBP7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
Tags
Amber Amber List (moderate evidence)
INPP5K
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Muscular dystrophy, congenital, with cataracts and intellectual disability
Tags
Amber Amber List (moderate evidence)
IRX5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
Tags
Amber Amber List (moderate evidence)
ITCH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM
Tags
Amber Amber List (moderate evidence)
JAM3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
Tags
Amber Amber List (moderate evidence)
KCNC3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPINOCEREBELLAR ATAXIA TYPE 13
Tags
Amber Amber List (moderate evidence)
KCNH1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TEMPLE BARRAISTER SYNDROME
Tags
Amber Amber List (moderate evidence)
KCNJ6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KEPPEN-LUBINSKY SYNDROME
Tags
Amber Amber List (moderate evidence)
KCNJ8
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • Cantu syndrome
Tags
Amber Amber List (moderate evidence)
KCNQ5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability with or without Epileptic Encephalopathy
Tags
Amber Amber List (moderate evidence)
KDM1A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental delay and distinctive facial features
Tags
Amber Amber List (moderate evidence)
KIDINS220
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ventriculomegaly and arthrogryposis, OMIM:619501
Tags
  • to_be_confirmed_NHSE
Amber Amber List (moderate evidence)
KMT2B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dystonia 28, childhood-onset, OMIM:617284
  • Complex early-onset dystonia
Tags
Amber Amber List (moderate evidence)
KPTN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 41, OMIM:615637
  • macrocephaly-developmental delay syndrome, MONDO:0014289
Tags
Amber Amber List (moderate evidence)
KRT74
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTRICHOSIS SIMPLEX OF THE SCALP 2
Tags
Amber Amber List (moderate evidence)
LIAS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Tags
Amber Amber List (moderate evidence)
LINS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Amber Amber List (moderate evidence)
LIPN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ICHTHYOSIS, LAMELLAR, 4
Tags
Amber Amber List (moderate evidence)
LIPT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Tags
Amber Amber List (moderate evidence)
LIPT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Tags
Amber Amber List (moderate evidence)
LOX
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortopathy
Tags
Amber Amber List (moderate evidence)
LRAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEBER CONGENITAL AMAUROSIS
Tags
Amber Amber List (moderate evidence)
LRBA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA
Tags
Amber Amber List (moderate evidence)
LRIG2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Urofacial syndrome 2, OMIM:615112
Tags
Amber Amber List (moderate evidence)
MAMLD1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • X-LINKED HYPOSPADIAS TYPE 2
Tags
Amber Amber List (moderate evidence)
MAN1B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Amber Amber List (moderate evidence)
MANBA
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LYSOSOMAL BETA-MANNOSIDOSIS
Tags
Amber Amber List (moderate evidence)
MAT1A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Tags
Amber Amber List (moderate evidence)
MBOAT7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability Accompanied by Epilepsy and Autistic Features
Tags
Amber Amber List (moderate evidence)
MDH2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Early-Onset Severe Encephalopathy
Tags
Amber Amber List (moderate evidence)
MECR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Childhood-Onset Dystonia and Optic Atrophy
Tags
Amber Amber List (moderate evidence)
MED17
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Tags
Amber Amber List (moderate evidence)
MIR17HG
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FEINGOLD SYNDROME
Tags
Amber Amber List (moderate evidence)
MITF
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM
  • Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
  • WAARDENBURG SYNDROME TYPE 2A
  • TIETZ SYNDROME
  • COMMAD syndrome, 617306
  • Tietz albinism-deafness syndrome, 103500
  • Waardenburg syndrome, type 2A, 193510
  • Waardenburg syndrome/ocular albinism, digenic, 103470
Tags
  • watchlist
Amber Amber List (moderate evidence)
MMP15
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cholestasis, MONDO:0001751
  • congenital heart disease, MONDO:0005453
Tags
  • watchlist
Amber Amber List (moderate evidence)
MPC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial pyruvate carrier deficiency, OMIM:614741
Tags
Amber Amber List (moderate evidence)
MPC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial pyruvate carrier deficiency
Tags
Amber Amber List (moderate evidence)
MRPS14
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 38, OMIM:618378
Tags
Amber Amber List (moderate evidence)
MRPS16
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 2
Tags
Amber Amber List (moderate evidence)
MRPS34
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Leigh Syndrome with Instability of the Small Mitoribosomal Subunit
Tags
Amber Amber List (moderate evidence)
MTPAP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Spastic ataxia 4, autosomal recessive, OMIM:613672
Tags
Amber Amber List (moderate evidence)
MYBPC3
2 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiomyopathy
  • ?Congenital myopathy
Tags
Amber Amber List (moderate evidence)
MYLK
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
Tags
Amber Amber List (moderate evidence)
MYOD1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Tags
  • watchlist
Amber Amber List (moderate evidence)
NAA15
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER
Tags
Amber Amber List (moderate evidence)
NADK2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
Tags
Amber Amber List (moderate evidence)
NAGLU
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3B
Tags
Amber Amber List (moderate evidence)
NAXE
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Lethal Neurometabolic Disorder of Early Childhood
Tags
Amber Amber List (moderate evidence)
NDUFA10
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEIGH SYNDROME DUP
Tags
Amber Amber List (moderate evidence)
NDUFAF2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEIGH SYNDROME
Tags
Amber Amber List (moderate evidence)
NDUFB7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Tags
Amber Amber List (moderate evidence)
NDUFC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170
Tags
Amber Amber List (moderate evidence)
NDUFV2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
Tags
Amber Amber List (moderate evidence)
NEXMIF
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KIAA2022
  • Intellectual disability and epilepsy
Tags
Amber Amber List (moderate evidence)
NEXN
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 1CC, OMIM:613122
  • Cardiomyopathy, hypertrophic, 20, OMIM:613876
Tags
  • watchlist
Amber Amber List (moderate evidence)
NHP2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
Tags
Amber Amber List (moderate evidence)
NKX6-2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Progressive Spastic Ataxia and Hypomyelination
Tags
Amber Amber List (moderate evidence)
NMNAT2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Research
Phenotypes
  • hydrops fetalis
  • cystic hygroma
  • bilateral hypoplastic lungs
  • hydrocephalus
  • hypoplastic cerebellum
  • severely reduced skeletal muscle mass or absence
  • flexion contractures of all extremities
  • micrognathia
  • cleft palate
  • hydropic placenta
Tags
Amber Amber List (moderate evidence)
NONO
4 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Left ventricular non-compaction cardiomyopathy (LVNC)
  • Ventricular septal defect (VSD)
  • Pulmonary stenosis
  • Atresia
  • Ebstein’s anomaly
Tags
  • watchlist
Amber Amber List (moderate evidence)
NOVA2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual disability with ataxia/spasticity
Tags
Amber Amber List (moderate evidence)
NSUN2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5
Tags
Amber Amber List (moderate evidence)
NTRK2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epilepsy and intellectual disability
Tags
Amber Amber List (moderate evidence)
NUAK2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Anencephaly
Tags
  • watchlist
Amber Amber List (moderate evidence)
NUP62
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INFANTILE STRIATONIGRAL DEGENERATION
Tags
Amber Amber List (moderate evidence)
NUP88
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Fetal akinesia deformation sequence 4, OMIM:618393
  • Fetal akinesia deformation sequence 4, MONDO:0100104
Tags
  • watchlist
Amber Amber List (moderate evidence)
NUS1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epilepsy and intellectual disability
Tags
Amber Amber List (moderate evidence)
OTUD6B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Tags
Amber Amber List (moderate evidence)
PACS1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
PAICS
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polyhydramnios
  • multiple congenital abnormalities
  • early neonatal death
Tags
Amber Amber List (moderate evidence)
PDE10A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Childhood-Onset Chorea with Bilateral Striatal Lesions
Tags
Amber Amber List (moderate evidence)
PDE6H
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETINAL CONE DYSTROPHY 3 PDE6H
  • ACHROMATOPSIA
Tags
Amber Amber List (moderate evidence)
PDSS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COENZYME Q10 DEFICIENCY, PRIMARY, 2
Tags
Amber Amber List (moderate evidence)
PGAP1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual disability, encephalopathy, impaired GPI-anchor maturation
Tags
Amber Amber List (moderate evidence)
PHF21A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POTOCKI-SHAFFER SYNDROME
Tags
Amber Amber List (moderate evidence)
PIGG
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability with Seizures and Hypotonia
Tags
Amber Amber List (moderate evidence)
PIGS
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 95, OMIM:618143
Tags
Amber Amber List (moderate evidence)
PIGY
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Glycosylphosphatidylinositol deficiency
Tags
Amber Amber List (moderate evidence)
PLAA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Lethal Infantile Epileptic Encephalopathy
Tags
Amber Amber List (moderate evidence)
PLCB1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
Tags
Amber Amber List (moderate evidence)
PLOD3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Lysyl hydroxylase 3 deficiency, OMIM:612394
  • IUGR
  • Contractures
Tags
Amber Amber List (moderate evidence)
PLPBP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Vitamin-B6-Dependent Epilepsy
Tags
Amber Amber List (moderate evidence)
POLG
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Tags
Amber Amber List (moderate evidence)
PPP3CA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe Neurodevelopmental Disease with Seizures
Tags
Amber Amber List (moderate evidence)
PREPL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTONIA-CYSTINURIA SYNDROME
Tags
Amber Amber List (moderate evidence)
PTH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FAMILIAL ISOLATED HYPOPARATHYROIDISM
Tags
Amber Amber List (moderate evidence)
PXDN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
Tags
Amber Amber List (moderate evidence)
PYCR2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME
Tags
Amber Amber List (moderate evidence)
PYROXD1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Tags
Amber Amber List (moderate evidence)
QARS
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
RAB11B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
RAD51
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MIRROR MOVEMENTS 2
Tags
Amber Amber List (moderate evidence)
RAD51C
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP 0
Tags
Amber Amber List (moderate evidence)
RIN2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
Tags
Amber Amber List (moderate evidence)
RLIM
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
RORA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
RPS23
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephaly, hearing loss, and dysmorphic features
Tags
Amber Amber List (moderate evidence)
RRAS
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RRAS-related atypical Noonan syndrome
Tags
  • Q2_24_promote_green
Amber Amber List (moderate evidence)
RSPRY1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
Tags
Amber Amber List (moderate evidence)
SACS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Tags
Amber Amber List (moderate evidence)
SASS6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Exper Review Amber
  • Expert Review Amber
  • PAGE Additional Gene List
Phenotypes
  • ?Microcephaly 14, primary, autosomal recessive 616402
Tags
Amber Amber List (moderate evidence)
SCN3A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Focal epilepsy
Tags
Amber Amber List (moderate evidence)
SCYL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Tags
Amber Amber List (moderate evidence)
SECISBP2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • THYROID HORMONE METABOLISM, ABNORMAL
Tags
Amber Amber List (moderate evidence)
SERPINA11
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Hydrops fetalis
Tags
Amber Amber List (moderate evidence)
SET
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SET syndrome
Tags
Amber Amber List (moderate evidence)
SETD1A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
SFXN4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 18, OMIM:615578
Tags
Amber Amber List (moderate evidence)
SGSH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3A
Tags
Amber Amber List (moderate evidence)
SHANK1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTISM
Tags
Amber Amber List (moderate evidence)
SHANK2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SUSCEPTIBILITY TO AUTISM TYPE 17
Tags
Amber Amber List (moderate evidence)
SHROOM3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURAL TUBE DEFECT
Tags
Amber Amber List (moderate evidence)
SIN3A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
SLC1A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Amber Amber List (moderate evidence)
SLC24A4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AMELOGENESIS IMPERFECTA.
Tags
Amber Amber List (moderate evidence)
SLC25A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182
Tags
Amber Amber List (moderate evidence)
SLC25A22
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
Tags
Amber Amber List (moderate evidence)
SLC25A4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Tags
Amber Amber List (moderate evidence)
SLC35A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION
Tags
Amber Amber List (moderate evidence)
SLC45A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual disability and epilepsy
Tags
Amber Amber List (moderate evidence)
SLC6A17
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
Tags
Amber Amber List (moderate evidence)
SMOC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH
Tags
Amber Amber List (moderate evidence)
SNAP25
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epilepsy and intellectual disability
Tags
Amber Amber List (moderate evidence)
SNAP29
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528
  • CEDNIK syndrome, MONDO:0012290
Tags
Amber Amber List (moderate evidence)
SNRPE
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX
Tags
Amber Amber List (moderate evidence)
SOX11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27
Tags
Amber Amber List (moderate evidence)
SOX5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
SPTA1
2 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Hydrops fetalis
  • Congenital anaemia
Tags
  • watchlist
Amber Amber List (moderate evidence)
SPTAN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental and epileptic encephalopathy 5, OMIM:613477
  • developmental and epileptic encephalopathy, 5, MONDO:0013277
Tags
Amber Amber List (moderate evidence)
SRP54
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Syndromic neutropenia with Shwachman-Diamond-like features
Tags
Amber Amber List (moderate evidence)
ST3GAL3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
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
Amber Amber List (moderate evidence)
ST3GAL5
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Infantile epilepsy
Tags
Amber Amber List (moderate evidence)
STAT5B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
Tags
Amber Amber List (moderate evidence)
STX1B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Tags
Amber Amber List (moderate evidence)
SUCLA2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Tags
Amber Amber List (moderate evidence)
SYN1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Tags
Amber Amber List (moderate evidence)
SZT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM
Tags
Amber Amber List (moderate evidence)
TAC3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOGONADOTROPIC HYPOGONADISM
Tags
Amber Amber List (moderate evidence)
TACO1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
Tags
Amber Amber List (moderate evidence)
TACR3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOGONADOTROPIC HYPOGONADISM
Tags
Amber Amber List (moderate evidence)
TAF13
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Autosomal-Recessive Intellectual Disability and Microcephaly
Tags
Amber Amber List (moderate evidence)
TBR1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTISM
Tags
Amber Amber List (moderate evidence)
TBX22
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CLEFT PALATE, X-LINKED
  • ?Abruzzo-Erickson syndrome, 302905
Tags
Amber Amber List (moderate evidence)
TCF20
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TCF20 syndrome
  • Developmental delay with variable intellectual impairment and behavioral abnormalities 618430
Tags
Amber Amber List (moderate evidence)
TECPR2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY SPASTIC PARAPARESIS
Tags
Amber Amber List (moderate evidence)
THOC2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, X-LINKED 12
Tags
Amber Amber List (moderate evidence)
THSD1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Intracerebral aneurysms
  • ?Hydrops fetalis
Tags
Amber Amber List (moderate evidence)
TKT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Short Stature, Developmental Delay, and Congenital Heart Defects
Tags
Amber Amber List (moderate evidence)
TMEM65
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • TMEM65 related mitochondrial encephalopmyopathy
Tags
Amber Amber List (moderate evidence)
TMTC3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cobblestone Lissencephaly
Tags
Amber Amber List (moderate evidence)
TNFRSF13B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • IMMUNODEFICIENCY, COMMON VARIABLE, 2
Tags
Amber Amber List (moderate evidence)
TRAPPC11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
Tags
Amber Amber List (moderate evidence)
TRIM32
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H
  • BARDET-BIEDL SYNDROME TYPE 11
Tags
Amber Amber List (moderate evidence)
TRIO
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
TRIP13
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mosaic Variegated Aneuploidy and Wilms Tumour
Tags
Amber Amber List (moderate evidence)
TRIT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 35, OMIM:617873
  • combined oxidative phosphorylation deficiency 35, MONDO:0054742
Tags
  • gene-checked
Amber Amber List (moderate evidence)
TRMT10C
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Tags
Amber Amber List (moderate evidence)
TRPM7
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiac arrhythmia, stillbirth
Tags
Amber Amber List (moderate evidence)
TRPV3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OLMSTED SYNDROME
Tags
Amber Amber List (moderate evidence)
TSEN15
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pontocerebellar Hypoplasia and Progressive Microcephaly
Tags
Amber Amber List (moderate evidence)
TTC25
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
TTI2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Amber Amber List (moderate evidence)
TUBA8
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
  • Cortical dysplasia, complex, with other brain malformations 8, 613180
Tags
Amber Amber List (moderate evidence)
TUFM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
Tags
Amber Amber List (moderate evidence)
TXN2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 29 , OMIM:616811
Tags
Amber Amber List (moderate evidence)
UBTF
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Childhood-Onset Neurodegeneration
Tags
Amber Amber List (moderate evidence)
UNC13D
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Pancytopenia
  • ?Hydrops fetalis
Tags
Amber Amber List (moderate evidence)
UQCC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
Tags
Amber Amber List (moderate evidence)
UQCRB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Tags
Amber Amber List (moderate evidence)
UQCRQ
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED
Tags
Amber Amber List (moderate evidence)
USP27X
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
VARS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, OMIM:615917
Tags
Amber Amber List (moderate evidence)
VDR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RICKETS VITAMIN D-DEPENDENT TYPE 2A
Tags
Amber Amber List (moderate evidence)
WARS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710
Tags
Amber Amber List (moderate evidence)
WNT3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TETRA-AMELIA SYNDROME
Tags
Amber Amber List (moderate evidence)
WNT4
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SERKAL SYNDROME
  • MULLERIAN APLASIA AND HYPERANDROGENISM
Tags
Amber Amber List (moderate evidence)
WNT9B
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Renal agenesis/hypoplasia/dysplasia
Tags
  • watchlist
Amber Amber List (moderate evidence)
WWOX
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
  • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
Tags
Amber Amber List (moderate evidence)
YAP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
Tags
Amber Amber List (moderate evidence)
YWHAG
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Early-Onset Epilepsy
Tags
Amber Amber List (moderate evidence)
ZFPM2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diaphragmatic hernia 3, OMIM:610187
Tags
Amber Amber List (moderate evidence)
ZMYND11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Amber Amber List (moderate evidence)
ZNF423
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
Phenotypes
  • Nephronophthisis 14 614844
  • Joubert syndrome 19 614844
Tags
Amber Amber List (moderate evidence)
ZNF462
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Tags
Amber Amber List (moderate evidence)
ZNF750
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
Tags
Red Red List (low evidence)
ABCB11
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ABCB11-RELATED INTRAHEPATIC CHOLESTASIS
Tags
Red Red List (low evidence)
ABCB7
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANEMIA, SIDEROBLASTIC, WITH ATAXIA
Tags
Red Red List (low evidence)
ABCC8
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial 256450
Tags
Red Red List (low evidence)
ABCD1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADRENOLEUKODYSTROPHY, X-LINKED
Tags
Red Red List (low evidence)
ACADM
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Tags
Red Red List (low evidence)
ACADS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
Tags
Red Red List (low evidence)
ACAT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALPHA-METHYLACETOACETIC ACIDURIA
Tags
Red Red List (low evidence)
ADA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency, OMIM:102700
  • Adenosine deaminase deficiency, partial, OMIM:102700
Tags
Red Red List (low evidence)
AFF2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRAGILE X-E MENTAL RETARDATION SYNDROME
Tags
Red Red List (low evidence)
AGA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ASPARTYLGLUCOSAMINURIA
Tags
Red Red List (low evidence)
AGPAT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Lipodystrophy 608594
Tags
Red Red List (low evidence)
AGRN
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Fetal akinesia deformation sequence (FADS)
Tags
Red Red List (low evidence)
AGXT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPEROXALURIA, PRIMARY, TYPE 1
Tags
Red Red List (low evidence)
AIPL1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEBER CONGENITAL AMAUROSIS 4
Tags
Red Red List (low evidence)
AIRE
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1
Tags
Red Red List (low evidence)
AK2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETICULAR DYSGENESIS
Tags
Red Red List (low evidence)
AKR1D1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
Tags
Red Red List (low evidence)
ALAD
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACUTE HEPATIC PORPHYRIA
Tags
Red Red List (low evidence)
ALDH4A1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERPROLINEMIA TYPE 2
Tags
Red Red List (low evidence)
ALDH5A1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Tags
Red Red List (low evidence)
ALDOB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY FRUCTOSE INTOLERANCE
Tags
Red Red List (low evidence)
ALS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALS2-RELATED DISORDERS
Tags
Red Red List (low evidence)
ANO5
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MIYOSHI MUSCULAR DYSTROPHY TYPE 3
  • GNATHODIAPHYSEAL DYSPLASIA
Tags
Red Red List (low evidence)
AP3B1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hermansky-Pudlak syndrome 2 608233
Tags
Red Red List (low evidence)
APOPT1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY
Tags
  • new-gene-name
Red Red List (low evidence)
APTX
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATAXIA WITH OCULOMOTOR APRAXIA 1
Tags
Red Red List (low evidence)
ARG1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARGININEMIA
Tags
Red Red List (low evidence)
ASL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARGININOSUCCINATE LYASE DEFICIENCY
Tags
Red Red List (low evidence)
ATM
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATAXIA-TELANGIECTASIA
Tags
Red Red List (low evidence)
ATP13A2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PARKINSON DISEASE 9
Tags
Red Red List (low evidence)
ATP1A3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RAPID-ONSET DYSTONIA-PARKINSONISM
  • ALTERNATING HEMIPLEGIA OF CHILDHOOD
Tags
Red Red List (low evidence)
ATP6V1B1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS
Tags
Red Red List (low evidence)
ATP8B1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS
Tags
Red Red List (low evidence)
AUH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-METHYLGLUTACONIC ACIDURIA TYPE 1
Tags
Red Red List (low evidence)
AUTS2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY
Tags
Red Red List (low evidence)
BCKDHA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MAPLE SYRUP URINE DISEASE
Tags
Red Red List (low evidence)
BCKDHB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MAPLE SYRUP URINE DISEASE
Tags
Red Red List (low evidence)
BRCA1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Red Red List (low evidence)
BRWD3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 93
Tags
Red Red List (low evidence)
C2orf71
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETINITIS PIGMENTOSA 54
Tags
  • new-gene-name
Red Red List (low evidence)
C4orf26
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Amelogenesis imperfecta, type IIA4, 614832
Tags
  • new-gene-name
Red Red List (low evidence)
CAD
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Uridine-responsive epileptic encephalopathy
Tags
Red Red List (low evidence)
CALCRL
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lymphatic malformation 8, OMIM:618773
  • Lymphatic malformation 8, MONDO:0032907
  • Hydrops fetalis
Tags
Red Red List (low evidence)
CAVIN1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Lipodystrophy, congenital generalized, type 4 613327
Tags
Red Red List (low evidence)
CBS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Tags
Red Red List (low evidence)
CC2D1A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 3, OMIM:608443
Tags
Red Red List (low evidence)
CCDC115
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Disorder of Golgi homeostasis
Tags
Red Red List (low evidence)
CCDC65
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Red Red List (low evidence)
CCNO
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 29
Tags
Red Red List (low evidence)
CHD2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Red Red List (low evidence)
CHRDL1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEGALOCORNEA, X-LINKED
Tags
Red Red List (low evidence)
CHRNA4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1
Tags
Red Red List (low evidence)
CIB2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • USHER SYNDROME TYPE 1J
  • NONSYNDROMIC DEAFNESS DFNB48
Tags
Red Red List (low evidence)
CISD2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WOLFRAM SYNDROME TYPE 2
Tags
Red Red List (low evidence)
CLDN19
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT
Tags
Red Red List (low evidence)
CLN3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 3
Tags
Red Red List (low evidence)
CLN5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 5
Tags
Red Red List (low evidence)
CLN6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET
  • CEROID LIPOFUSCINOSIS, NEURONAL, 6
Tags
Red Red List (low evidence)
CLN8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8
Tags
Red Red List (low evidence)
CNBP
2 reviews
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
COL4A3
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALPORT SYNDROME AUTOSOMAL RECESSIVE
  • ALPORT SYNDROME AUTOSOMAL DOMINANT
Tags
Red Red List (low evidence)
COL4A4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALPORT SYNDROME AUTOSOMAL RECESSIVE
Tags
Red Red List (low evidence)
COL5A1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Ehlers-Danlos syndrome, classic type 130000
Tags
Red Red List (low evidence)
COL5A2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Ehlers-Danlos syndrome, classic type 130000
Tags
Red Red List (low evidence)
COL9A3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
Tags
Red Red List (low evidence)
COMP
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARE THE CAUSE OF PSEUDOACHONDROPLASIA
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1
Tags
Red Red List (low evidence)
COQ2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COENZYME Q10 DEFICIENCY
Tags
Red Red List (low evidence)
COQ8A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Coenzyme Q10 deficiency, primary 4, 612016
Tags
Red Red List (low evidence)
COX10
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Tags
Red Red List (low evidence)
COX15
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEIGH SYNDROME
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY
Tags
Red Red List (low evidence)
COX6B1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Tags
Red Red List (low evidence)
CPS1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY
Tags
Red Red List (low evidence)
CRB1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEBER CONGENITAL AMAUROSIS 8
  • RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE
Tags
Red Red List (low evidence)
CRX
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7
Tags
Red Red List (low evidence)
CSTB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
CTNS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CYSTINOSIS NEPHROPATHIC TYPE
  • CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
  • CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE
Tags
Red Red List (low evidence)
CYC1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
Tags
Red Red List (low evidence)
CYP19A1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Aromatase deficiency, OMIM:613546
  • Aromatase excess syndrome, OMIM:139300
Tags
Red Red List (low evidence)
DBT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MAPLE SYRUP URINE DISEASEQ
Tags
Red Red List (low evidence)
DDB2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE
Tags
Red Red List (low evidence)
DDC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
  • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Tags
Red Red List (low evidence)
DDHD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY SPASTIC PARAPLEGIA
Tags
Red Red List (low evidence)
DDHD2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMPLEX HEREDITARY SPASTIC PARAPLEGIA
Tags
Red Red List (low evidence)
DDOST
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR
Tags
Red Red List (low evidence)
DEAF1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
  • Autism, intellectual disability, basal ganglia dysfunction and epilepsy
Tags
  • watchlist
Red Red List (low evidence)
DHH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • 46XY partial gonadal dysgenesis, with minifascicular neuropathy
  • 46XY sex reversal 7
Tags
Red Red List (low evidence)
DLAT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PYRUVATE DEHYDROGENASE E2 DEFICIENCY
Tags
Red Red List (low evidence)
DLD
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY
  • LEIGH SYNDROME
Tags
Red Red List (low evidence)
DLG3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 90
Tags
Red Red List (low evidence)
DMP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOPHOSPHATEMIC RICKETS, AR
Tags
Red Red List (low evidence)
DMPK
3 reviews
1 green 2 red 		Other
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DNAH2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Hydrops
  • Complex cardiopathy
Tags
Red Red List (low evidence)
DOCK8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE
Tags
Red Red List (low evidence)
DSPP
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1
Tags
Red Red List (low evidence)
DUSP6
1 review
 Unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 19 with or without anosmia 615269
Tags
Red Red List (low evidence)
EDA
3 reviews
1 green 2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, OMIM:305100
Tags
Red Red List (low evidence)
EDAR
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
Tags
Red Red List (low evidence)
EGR2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUROPATHY, CONGENITAL HYPOMYELINATING, 1
Tags
Red Red List (low evidence)
EPHX1
1 review
 Unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypercholanemia, familial
  • ?Fetal hydantoin syndrome
  • Diphenylhydantoin toxicity
Tags
Red Red List (low evidence)
ERCC6L2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BONE MARROW FAILURE SYNDROME 2
Tags
Red Red List (low evidence)
ETHE1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ETHYLMALONIC ENCEPHALOPATHY
Tags
Red Red List (low evidence)
FAM161A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETINITIS PIGMENTOSA 28
Tags
Red Red List (low evidence)
FARS2
1 review
1 red 		Not set
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Neurometabolic disorder due to FARS2 deficiency
Tags
Red Red List (low evidence)
FBP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY
Tags
Red Red List (low evidence)
FBXO11
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Variable Neurodevelopmental Disorder
Tags
  • watchlist
Red Red List (low evidence)
FGD4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Charcot-Marie-Tooth disease 609311
Tags
Red Red List (low evidence)
FGF12
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Red Red List (low evidence)
FGF17
1 review
 Unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 20 with or without anosmia 615270
Tags
Red Red List (low evidence)
FGF20
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Renal hypodysplasia/aplasia 2, 615721
Tags
Red Red List (low evidence)
FHL1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED
Tags
Red Red List (low evidence)
FLAD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Tags
Red Red List (low evidence)
FLRT3
1 review
 Unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 21 with anosmia 615271
Tags
Red Red List (low evidence)
FLVCR1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
Tags
Red Red List (low evidence)
FMR1
1 review
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Fragile X syndrome, OMIM:300624
  • Fragile X tremor/ataxia syndrome, OMIM:300623
Tags
Red Red List (low evidence)
FOXN1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALOPECIA AND T-CELL IMMUNODEFICIENCY
Tags
Red Red List (low evidence)
FOXP1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
Tags
Red Red List (low evidence)
FRMD7
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NYSTAGMUS 1, CONGENITAL, X-LINKED
Tags
Red Red List (low evidence)
FTCD
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Tags
Red Red List (low evidence)
FTSJ1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 44
Tags
Red Red List (low evidence)
FUZ
1 review
 Unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Neural tube defects 182940
Tags
Red Red List (low evidence)
FZD6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10
Tags
Red Red List (low evidence)
GABRB3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHIES
  • CHILDHOOD ABSENCE EPILEPSY TYPE 5
Tags
Red Red List (low evidence)
GALT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GALACTOSEMIA
Tags
Red Red List (low evidence)
GAMT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
Tags
Red Red List (low evidence)
GAS8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Red Red List (low evidence)
GATAD2B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NONSPECIFIC SEVERE ID
Tags
Red Red List (low evidence)
GATM
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cerebral creatine deficiency syndrome 3, OMIM:612718
Tags
Red Red List (low evidence)
GCH1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GTP CYCLOHYDROLASE 1 DEFICIENCY
  • DYSTONIA TYPE 5
Tags
Red Red List (low evidence)
GDF2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lymphatic dysplasia
  • hydrothorax
  • hydrops
Tags
Red Red List (low evidence)
GDI1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 48
  • MENTAL RETARDATION X-LINKED TYPE 41
Tags
Red Red List (low evidence)
GHR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PITUITARY DWARFISM II
Tags
Red Red List (low evidence)
GJB2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VOHWINKEL SYNDROME
  • ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME
  • PALMOPLANTAR KERATODERMA WITH DEAFNESS
  • BART-PUMPHREY SYNDROME
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A
Tags
Red Red List (low evidence)
GK
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLYCEROL KINASE DEFICIENCY
Tags
Red Red List (low evidence)
GLMN
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLOMUVENOUS MALFORMATIONS
Tags
Red Red List (low evidence)
GLUD1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
Tags
Red Red List (low evidence)
GMPPA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION
Tags
Red Red List (low evidence)
GRIA3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 94
Tags
Red Red List (low evidence)
GRIK2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6
Tags
Red Red List (low evidence)
GRIN2A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
  • LANDAU-KLEFFNER SYNDROME
Tags
Red Red List (low evidence)
GRM1
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831
Tags
Red Red List (low evidence)
GRM6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
Tags
Red Red List (low evidence)
H19
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Wilms tumor 2 194071
  • Beckwith-Wiedemann syndrome 130650
  • Silver-Russell syndrome 180860
Tags
Red Red List (low evidence)
H3F3A
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Craniofacial with neurodevelopment disorders
Tags
  • new-gene-name
Red Red List (low evidence)
HACE1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HACE1 related disorder
Tags
Red Red List (low evidence)
HADH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Tags
Red Red List (low evidence)
HAX1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE
Tags
Red Red List (low evidence)
HCN1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
Tags
Red Red List (low evidence)
HDAC4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
Tags
Red Red List (low evidence)
HECW2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HECW2
Tags
Red Red List (low evidence)
HEXA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GM2-GANGLIOSIDOSIS TYPE 1
Tags
Red Red List (low evidence)
HEXB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Tags
Red Red List (low evidence)
HINT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
Tags
Red Red List (low evidence)
HLCS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Tags
Red Red List (low evidence)
HMGCL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY
Tags
Red Red List (low evidence)
HMGCS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY
Tags
Red Red List (low evidence)
HNRNPU
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Red Red List (low evidence)
HOXC13
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PURE HAIR AND NAIL ECTODERMAL DYSPLASIA
Tags
Red Red List (low evidence)
HPGD
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRANIOOSTEOARTHROPATHY
Tags
Red Red List (low evidence)
HPRT1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hyperuricemia, HRPT-related, OMIM:300323
  • Lesch-Nyhan syndrome, OMIM:300322
Tags
Red Red List (low evidence)
HPS1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HERMANSKY-PUDLAK SYNDROME
Tags
Red Red List (low evidence)
HSD17B10
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY
  • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10
Tags
Red Red List (low evidence)
HSD3B7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
Tags
Red Red List (low evidence)
HYAL1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 9
Tags
Red Red List (low evidence)
HYDIN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 5
Tags
Red Red List (low evidence)
IGSF1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT
Tags
Red Red List (low evidence)
IL17RD
1 review
 Unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 18 with or without anosmia 615267
Tags
Red Red List (low evidence)
IQSEC2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 1
Tags
Red Red List (low evidence)
ITGA7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL MUSCULAR DYSTROPHY
Tags
Red Red List (low evidence)
ITPR1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPINOCEREBELLAR ATAXIA TYPE15
  • SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE
  • Gillespie Syndrome
Tags
  • watchlist
Red Red List (low evidence)
IVD
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ISOVALERIC ACIDEMIA
Tags
Red Red List (low evidence)
JAGN1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE CONGENITAL NEUTROPENIA
Tags
Red Red List (low evidence)
JAK3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED
Tags
Red Red List (low evidence)
KARS
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
  • DEAFNESS, AUTOSOMAL RECESSIVE 89
Tags
  • new-gene-name
Red Red List (low evidence)
KBTBD13
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEMALINE MYOPATHY 6
Tags
Red Red List (low evidence)
KCNA2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY.
Tags
Red Red List (low evidence)
KCNB1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
Tags
Red Red List (low evidence)
KCNC1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPSY, PROGRESSIVE MYOCLONIC 7
Tags
Red Red List (low evidence)
KCNE1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
Tags
Red Red List (low evidence)
KCNJ10
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE
Tags
Red Red List (low evidence)
KCNJ11
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL
  • FAMILIAL HYPERINSULINISM
Tags
Red Red List (low evidence)
KCNQ1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1
Tags
Red Red List (low evidence)
KCNQ2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BENIGN NEONATAL EPILEPSY TYPE 1
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7
Tags
Red Red List (low evidence)
KCNQ3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KCNQ3 syndrome
Tags
Red Red List (low evidence)
KCNT1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
  • SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Tags
Red Red List (low evidence)
KCTD7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS
  • PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3
Tags
Red Red List (low evidence)
KISS1R
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia 614837
Tags
Red Red List (low evidence)
KIT
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HUMAN PIEBALDISM
Tags
Red Red List (low evidence)
KMT2E
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • INTELLECTUAL DISABILITY
  • O'Donnell-Luria-Rodan syndrome, 618512
Tags
Red Red List (low evidence)
KMT5B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KMT5B syndrome
Tags
Red Red List (low evidence)
LAMA3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Epidermolysis bullosa, junctional 226700
Tags
Red Red List (low evidence)
LAMB3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Epidermolysis bullosa, junctional 226700
  • Epidermolysis bullosa, junctional 226650
Tags
Red Red List (low evidence)
LAMC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Epidermolysis bullosa, junctional 226700
  • Epidermolysis bullosa, junctional 226650
Tags
Red Red List (low evidence)
LAMP2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DANON DISEASE
Tags
Red Red List (low evidence)
LDB3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARDIOMYOPATHY DILATED TYPE 1C
  • MYOPATHY MYOFIBRILLAR TYPE 4
  • LEFT VENTRICULAR NON-COMPACTION TYPE 3
Tags
Red Red List (low evidence)
LEMD3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MELORHEOSTOSIS
  • BUSCHKE-OLLENDORFF SYNDROME
Tags
Red Red List (low evidence)
LMOD1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Tags
Red Red List (low evidence)
LRIT3
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS
Tags
Red Red List (low evidence)
LRPPRC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEIGH SYNDROME, FRENCH-CANADIAN TYPE
Tags
Red Red List (low evidence)
LTBP2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROSPHEROPHAKIA
  • PRIMARY CONGENITAL GLAUCOMA TYPE 3D
Tags
Red Red List (low evidence)
MAN2B1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LYSOSOMAL ALPHA-MANNOSIDOSIS
Tags
Red Red List (low evidence)
MAOA
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRUNNER SYNDROME
Tags
Red Red List (low evidence)
MC2R
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLUCOCORTICOID DEFICIENCY 1
Tags
Red Red List (low evidence)
MCCC1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
Tags
Red Red List (low evidence)
MCCC2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
Tags
Red Red List (low evidence)
MCEE
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLMALONYL-COA EPIMERASE DEFICIENCY
Tags
Red Red List (low evidence)
MECP2
1 review
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS
  • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13
  • MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE
  • CHROMOSOME XQ28 DUPLICATION SYNDROME
  • RETT SYNDROME (RTT)[
Tags
Red Red List (low evidence)
MFSD8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS
Tags
Red Red List (low evidence)
MGAT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A
Tags
Red Red List (low evidence)
MICU1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
Tags
Red Red List (low evidence)
MLH1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Mismatch repair cancer syndrome 276300
Tags
Red Red List (low evidence)
MMAA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLMALONIC ACIDURIA TYPE CBLA
Tags
Red Red List (low evidence)
MMAB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLMALONIC ACIDURIA TYPE CBLB
Tags
Red Red List (low evidence)
MPI
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital disorder of glycosylation, type Ib, OMIM:602579
  • MPI-CDG, MONDO:0011257
Tags
Red Red List (low evidence)
MPV17
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 6
Tags
Red Red List (low evidence)
MPZ
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Charcot-Marie-Tooth disease, type 1B 118200
  • Charcot-Marie-Tooth disease, type 2I 607677
  • Roussy-Levy syndrome 180800
  • Dejerine-Sottas disease 145900
  • Charcot-Marie-Tooth disease, type 2J 607736
  • Charcot-Marie-Tooth disease, dominant intermediate D 607791
  • Neuropathy, congenital hypomyelinating 605253
Tags
Red Red List (low evidence)
MRE11
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATAXIA TELANGIECTASIA-LIKE DISORDER
Tags
Red Red List (low evidence)
MSH2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Mismatch repair cancer syndrome 276300
  • Mismatch repair cancer syndrome
Tags
Red Red List (low evidence)
MSH6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Mismatch repair cancer syndrome 276300
Tags
Red Red List (low evidence)
MT-TP
1 review
1 red 		MITOCHONDRIAL
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MERRF
Tags
Red Red List (low evidence)
MTHFR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
Tags
Red Red List (low evidence)
MTR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLCOBALAMIN DEFICIENCY TYPE G
Tags
Red Red List (low evidence)
MTRR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE
Tags
Red Red List (low evidence)
MUT
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METHYLMALONIC ACIDURIA TYPE MUT
Tags
  • new-gene-name
Red Red List (low evidence)
MYBPC2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Fetal akinesia
  • Hydrops
  • Hygroma
  • Multiple pterygium
Tags
Red Red List (low evidence)
MYO5A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GRISCELLI SYNDROME TYPE 3
  • ELEJALDE SYNDROME
Tags
Red Red List (low evidence)
MYO5B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Diarrhea 2, with microvillus atrophy, OMIM:251850
Tags
Red Red List (low evidence)
MYO7A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 2
  • USHER SYNDROME TYPE 1B
Tags
Red Red List (low evidence)
MYT1L
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYT1L syndrome
Tags
Red Red List (low evidence)
NAGS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
Tags
Red Red List (low evidence)
NDUFA1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Tags
Red Red List (low evidence)
NDUFA12
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Tags
Red Red List (low evidence)
NDUFS4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
  • LEIGH SYNDROME DUP
  • LEIGH SYNDROME
Tags
Red Red List (low evidence)
NDUFS7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Tags
Red Red List (low evidence)
NDUFS8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Tags
Red Red List (low evidence)
NDUFV1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
Red Red List (low evidence)
NFU1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Tags
Red Red List (low evidence)
NGLY1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF DEGLYCOSYLATION
Tags
Red Red List (low evidence)
NKX2-1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BENIGN HEREDITARY CHOREA
  • CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
Tags
Red Red List (low evidence)
NMNAT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEBER CONGENITAL AMAUROSIS
Tags
Red Red List (low evidence)
NPHS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEPHROTIC SYNDROME, TYPE 2
Tags
Red Red List (low evidence)
NR2F1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME
Tags
Red Red List (low evidence)
NRXN2
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTISM
Tags
Red Red List (low evidence)
NSMF
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Tags
Red Red List (low evidence)
NT5C2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Spastic paraplegia 45, autosomal recessive 613162
Tags
Red Red List (low evidence)
NT5C3A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
Tags
Red Red List (low evidence)
NTRK1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
Tags
Red Red List (low evidence)
NYX
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
Tags
Red Red List (low evidence)
OTC
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Tags
Red Red List (low evidence)
OTOGL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MODERATE SENSORINEURAL HEARING LOSS
Tags
Red Red List (low evidence)
OTULIN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Tags
Red Red List (low evidence)
OXCT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY
Tags
Red Red List (low evidence)
PAH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PHENYLKETONURIA
  • NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA
Tags
Red Red List (low evidence)
PAX9
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TOOTH AGENESIS, SELECTIVE, 3
Tags
Red Red List (low evidence)
PCBD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
Tags
Red Red List (low evidence)
PCCA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROPIONIC ACIDEMIA
Tags
Red Red List (low evidence)
PCCB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROPIONIC ACIDEMIA
Tags
Red Red List (low evidence)
PCDH19
1 review
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9
Tags
Red Red List (low evidence)
PDE6G
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETINITIS PIGMENTOSA 57
Tags
Red Red List (low evidence)
PDSS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COENZYME Q10 DEFICIENCY, PRIMARY, 3
Tags
Red Red List (low evidence)
PGK1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
Tags
Red Red List (low evidence)
PLA2G6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
  • INFANTILE NEUROAXONAL DYSTROPHY 1
Tags
Red Red List (low evidence)
PLCE1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEPHROTIC SYNDROME, TYPE 3
Tags
Red Red List (low evidence)
PLP1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPASTIC PARAPLEGIA X-LINKED TYPE 2
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 1
Tags
Red Red List (low evidence)
PMP22
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Neuropathy, recurrent, with pressure palsies 162500
  • Charcot-Marie-Tooth disease, type 1A 118220
  • Charcot-Marie-Tooth disease, type 1E 118300
  • Dejerine-Sottas disease 145900
  • Neuropathy, inflammatory demyelinating 139393
  • Roussy-Levy syndrome 180800
Tags
Red Red List (low evidence)
PMS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME
Tags
Red Red List (low evidence)
PNPT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RESPIRATORY CHAIN DISORDER
  • HEARING LOSS
Tags
Red Red List (low evidence)
POC1B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
Tags
Red Red List (low evidence)
POLD1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Tags
Red Red List (low evidence)
PPA2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Sudden arrhythmic cardiac death after infectious or alcohol trigger
Tags
Red Red List (low evidence)
PPM1D
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PPM1D syndrome
Tags
Red Red List (low evidence)
PPT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 1
Tags
Red Red List (low evidence)
PRDM12
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII
Tags
Red Red List (low evidence)
PROK2
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 4 with or without anosmia, 610628
Tags
Red Red List (low evidence)
PROKR2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia 244200
Tags
Red Red List (low evidence)
PROP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Tags
Red Red List (low evidence)
PRPS1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
  • ARTS SYNDROME
  • CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5
  • DEAFNESS X-LINKED TYPE 1
Tags
Red Red List (low evidence)
PRRT2
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Red Red List (low evidence)
PRSS12
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1
Tags
Red Red List (low evidence)
PRX
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Dejerine-Sottas disease, OMIM:145900
Tags
Red Red List (low evidence)
PSMB8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Tags
Red Red List (low evidence)
PTCHD1
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTISM/ID
Tags
Red Red List (low evidence)
PTEN
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MACROCEPHALY/AUTISM SYNDROME
  • BANNAYAN-ZONANA SYNDROME
  • PROTEUS SYNDROME
  • VACTERL ASSOCIATION WITH HYDROCEPHALUS
  • COWDEN DISEASE
  • LHERMITTE-DUCLOS DISEASE
Tags
  • mosaicism
Red Red List (low evidence)
PURA
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Red Red List (low evidence)
PYGL
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLYCOGEN STORAGE DISEASE TYPE VI
Tags
Red Red List (low evidence)
QDPR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BH4-DEFICIENT HYPERPHENYLALANINEMIA C
Tags
Red Red List (low evidence)
RAB39B
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, X-linked 72, OMIM:300271
  • Waisman syndrome, OMIM:311510
Tags
Red Red List (low evidence)
RETREG1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
Tags
Red Red List (low evidence)
RFWD3
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Fanconi anemia, complementation group W, OMIM:617784
Tags
Red Red List (low evidence)
RPE65
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEBER CONGENITAL AMAUROSIS
Tags
Red Red List (low evidence)
RPGRIP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEBER CONGENITAL AMAUROSIS 6
  • CONE-ROD DYSTROPHY 13
Tags
Red Red List (low evidence)
RSPH1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS
Tags
Red Red List (low evidence)
RSPH3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS
Tags
Red Red List (low evidence)
RSPO4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANONYCHIA CONGENITA
Tags
Red Red List (low evidence)
RTN4IP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Tags
Red Red List (low evidence)
SCN11A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL INABILITY TO EXPERIENCE PAIN
Tags
Red Red List (low evidence)
SCN1B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1
  • BRUGADA SYNDROME 5
Tags
Red Red List (low evidence)
SCN7A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Holoprosencephaly
Tags
Red Red List (low evidence)
SCN8A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
Tags
Red Red List (low evidence)
SCO1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Tags
Red Red List (low evidence)
SDHA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEIGH SYNDROME
Tags
Red Red List (low evidence)
SDHAF1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL COMPLEX II DEFICIENCY
Tags
Red Red List (low evidence)
SDHD
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167
Tags
Red Red List (low evidence)
SELENON
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Muscular dystrophy, rigid spine, 1, OMIM:602771
Tags
Red Red List (low evidence)
SGCA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2D 608099
Tags
Red Red List (low evidence)
SHROOM4
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Stocco dos Santos X-linked mental retardation syndrome, 300434
Tags
Red Red List (low evidence)
SIK1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEONATAL EPILEPSY SPECTRUM
Tags
Red Red List (low evidence)
SIM1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Severe obesity with neurobehavioral features
Tags
  • multifactorial
Red Red List (low evidence)
SIX1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRANCHIOOTIC SYNDROME TYPE 3
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 23
Tags
Red Red List (low evidence)
SKIV2L
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TRICHOHEPATOENTERIC SYNDROME 2
Tags
  • new-gene-name
Red Red List (low evidence)
SLC19A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 2
Tags
Red Red List (low evidence)
SLC22A5
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Carnitine deficiency, systemic primary, OMIM:212140
  • systemic primary carnitine deficiency disease, MONDO:0008919
Tags
Red Red List (low evidence)
SLC25A15
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
Tags
Red Red List (low evidence)
SLC25A26
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY
Tags
Red Red List (low evidence)
SLC2A1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLUT1 DEFICIENCY SYNDROME TYPE 2
  • GLUT1 DEFICIENCY SYNDROME TYPE 1
Tags
Red Red List (low evidence)
SLC2A2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI-BICKEL SYNDROME
Tags
Red Red List (low evidence)
SLC37A4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Glycogen storage disease Ib 232220
Tags
Red Red List (low evidence)
SLC39A13
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION
  • EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA
Tags
Red Red List (low evidence)
SLC46A1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY FOLATE MALABSORPTION
Tags
Red Red List (low evidence)
SLC4A1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RENAL TUBULAR ACIDOSIS, DISTAL, AR
  • RENAL TUBULAR ACIDOSIS, DISTAL, AD
Tags
Red Red List (low evidence)
SLC4A11
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
Tags
Red Red List (low evidence)
SLC4A4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
Tags
Red Red List (low evidence)
SLC52A2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2
Tags
Red Red List (low evidence)
SLC52A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BROWN-VIALETTO-VAN LAERE SYNDROME
Tags
Red Red List (low evidence)
SLC5A5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • THYROID HORMONOGENESIS DEFECT I
Tags
Red Red List (low evidence)
SLC6A1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES
Tags
Red Red List (low evidence)
SLC6A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PARKINSONISM-DYSTONIA, INFANTILE
Tags
Red Red List (low evidence)
SLC6A5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hyperekplexia 3, 614618
Tags
Red Red List (low evidence)
SLC6A8
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • X-LINKED CREATINE DEFICIENCY SYNDROME
Tags
Red Red List (low evidence)
SLC9A6
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE
Tags
Red Red List (low evidence)
SMARCAL1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Schimke immunoosseous dysplasia, OMIM:242900
Tags
Red Red List (low evidence)
SP110
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hepatic venoocclusive disease with immunodeficiency 235550
Tags
Red Red List (low evidence)
SPR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Tags
Red Red List (low evidence)
SPRY4
1 review
 Unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 17 with or without anosmia 615266
Tags
Red Red List (low evidence)
SPTBN2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • SCA14
  • Infantile ataxia with oculomotor and pyramidal signs
  • Spinocerebellar ataxia, autosomal recessive 14, 615386
Tags
  • watchlist
Red Red List (low evidence)
SPTBN5
2 reviews
2 red 		Unknown
Sources
  • Literature
Phenotypes
  • Multicystic kidney
  • Oligohydramnios
  • Sacral agenesis
Tags
Red Red List (low evidence)
SPTLC2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
Tags
Red Red List (low evidence)
STAG1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • STAG1 syndromic intellectual disability
Tags
Red Red List (low evidence)
STAT1
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • STAT1 DEFICIENCY COMPLETE
  • MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE
  • FAMILIAL CANDIDIASIS TYPE 7
Tags
Red Red List (low evidence)
STS
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ICHTHYOSIS, X-LINKED
Tags
Red Red List (low evidence)
STXBP1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4
  • ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER
Tags
Red Red List (low evidence)
SURF1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMPLEX IV DEFICIENCY
  • LEIGH SYNDROME
Tags
Red Red List (low evidence)
SYNGAP1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5
Tags
Red Red List (low evidence)
SYP
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED SYP-RELATED
Tags
Red Red List (low evidence)
TANGO2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Tags
Red Red List (low evidence)
TAT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TYROSINEMIA TYPE 2
Tags
Red Red List (low evidence)
TBXAS1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GHOSAL HEMATODIAPHYSEAL SYNDROME
Tags
Red Red List (low evidence)
TCN2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Transcobalamin II deficiency
Tags
Red Red List (low evidence)
TEK
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
Tags
Red Red List (low evidence)
TERT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 4
Tags
Red Red List (low evidence)
TGFB1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Camurati-Engelmann disease, OMIM:131300
Tags
Red Red List (low evidence)
TH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DOPA-RESPONSIVE DYSTONIA
Tags
Red Red List (low evidence)
THAP1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DYSTONIA 6, TORSION
Tags
Red Red List (low evidence)
TIMM8A
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MOHR-TRANEBJAERG SYNDROME
  • JENSEN SYNDROME
Tags
Red Red List (low evidence)
TMEM126B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Muscle Weakness and Isolated Complex I Deficiency
Tags
Red Red List (low evidence)
TMPRSS6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Tags
Red Red List (low evidence)
TNFRSF11B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Paget disease 239000
Tags
Red Red List (low evidence)
TNXB
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Ehlers-Danlos syndrome due to tenascin X deficiency 606408
  • Vesicoureteral reflux 8 615963
Tags
Red Red List (low evidence)
TOGARAM1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cleft of the lip and palate
  • Microphthalmia
  • Cerebral dysgenesis
  • Hydrocephalus
Tags
Red Red List (low evidence)
TPP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 2
Tags
Red Red List (low evidence)
TRAPPC2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
Tags
Red Red List (low evidence)
TRMU
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Liver failure, transient infantile, OMIM:613070
Tags
Red Red List (low evidence)
TRPM1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
Tags
Red Red List (low evidence)
TSHB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
Tags
Red Red List (low evidence)
TSHR
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
  • HYPERTHYROIDISM, FAMILIAL GESTATIONAL
Tags
Red Red List (low evidence)
TSPAN7
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 58
Tags
Red Red List (low evidence)
TTC19
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MITOCHONDRIAL COMPLEX III DEFICIENCY
Tags
Red Red List (low evidence)
TUSC3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
Tags
Red Red List (low evidence)
TYR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OCULOCUTANEOUS ALBINISM TYPE 1
Tags
Red Red List (low evidence)
TYRP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OCULOCUTANEOUS ALBINISM TYPE 3
Tags
Red Red List (low evidence)
UBA5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe Infantile-Onset Encephalopathy
Tags
Red Red List (low evidence)
UBE2A
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION
Tags
Red Red List (low evidence)
UBE3A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANGELMAN SYNDROME
Tags
Red Red List (low evidence)
UFC1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Severe early-onset encephalopathy with progressive microcephaly
Tags
Red Red List (low evidence)
UFM1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Severe early-onset encephalopathy with progressive microcephaly,
Tags
Red Red List (low evidence)
UGT1A1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRIGLER-NAJJAR SYNDROME, TYPE I
Tags
Red Red List (low evidence)
UNC80
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Tags
Red Red List (low evidence)
UPF3B
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14
Tags
Red Red List (low evidence)
UROC1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • UROCANASE DEFICIENCY
Tags
Red Red List (low evidence)
USB1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Poikiloderma with neutropenia
Tags
Red Red List (low evidence)
UVSSA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • UV-SENSITIVE SYNDROME
Tags
Red Red List (low evidence)
WAC
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
  • WAC syndrome
Tags
Red Red List (low evidence)
WASHC5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Spastic paraplegia 8, autosomal dominant 603563
  • Ritscher-Schinzel syndrome 1 220210
Tags
Red Red List (low evidence)
WDR11
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KALLMANN SYNDROME
Tags
Red Red List (low evidence)
WDR45
1 review
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Tags
Red Red List (low evidence)
WDR91
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Hygroma
  • Hydrocephaly
Tags
Red Red List (low evidence)
XPA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • XERODERMA PIGMENTOSUM, GROUP A
Tags
Red Red List (low evidence)
XPC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • XERODERMA PIGMENTOSUM, GROUP C
Tags
Red Red List (low evidence)
ZDHHC9
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED
Tags
Red Red List (low evidence)
ZFYVE26
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15
Tags
Red Red List (low evidence)
ZNF3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Hydrocephaly
  • Facial cleft
Tags
Red Red List (low evidence)
ZNF711
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED ZNF711-RELATED
Tags
No list No list
CDH23
1 review
 Not set
Sources
  • Expert Review Removed
Tags
No list No list
CHM
1 review
 Not set
Sources
  • Expert Review Removed
Tags
No list No list
DMD
1 review
 Not set
Sources
  • Expert Review Removed
Tags
  • Skewed X-inactivation
No list No list
GJB3
1 review
 Not set
Sources
  • Expert Review Removed
Tags
No list No list
MYO15A
1 review
 Not set
Sources
  • Expert Review Removed
Tags
No list No list
NLGN3
1 review
 Not set
Sources
  • Expert Review Removed
Tags
No list No list
NRXN1
1 review
 Not set
Sources
  • Expert Review Removed
Tags
No list No list
PNPLA2
1 review
 Not set
Sources
  • Expert Review Removed
Tags

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