PanelApp
  1. Panels
  2. Fetal anomalies
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
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
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
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 SYNDROME
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
  • Q2_22_expert_review
  • Q2_22_MOI
  • 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
  • Q3_21_expert_review
  • Q3_21_MOI
  • 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
2 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
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 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
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 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