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 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 Fetal anomalies with a likely genetic cause'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.
If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local 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).

10 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

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

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

    Group: Other NHS organisation
    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

1719 Entities

1719 reviewed, 964 green

List Entity Reviews Mode of inheritance Details
1719 Entitiess
Green Green List (high evidence)
AAAS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
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)
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
1 review
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, 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
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
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)
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
  • DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
  • AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE
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)
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
1 review
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)
AKT3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEMIMEGALENCEPHALY AKT3
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
1 review
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)
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)
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)
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)
AMER1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
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)
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)
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
Tags
Green Green List (high evidence)
AP1S2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 59
Tags
Green Green List (high evidence)
AP4E1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4
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
  • SPINAL AND BULBAR MUSCULAR ATROPHY
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)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 23
Tags
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
1 review
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
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
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
  • ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
  • Harel-Yoon syndrome, 617183
Tags
  • watchlist
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)
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)
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)
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)
BBS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 1
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
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPLIT HAND AND FOOT MALFORMATION
  • MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
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
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
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRACHYDACTYLY TYPE A2
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
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
  • new-gene-name
Green Green List (high evidence)
C12orf65
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
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)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONE-ROD DYSTROPHY 16
Tags
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
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)
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)
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
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)
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)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Anemia, congenital dyserythropoietic, type I 224120
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)
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)
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
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)
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)
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)
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)
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
  • INTELLECTUAL DISABILITY
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
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)
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)
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)
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)
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
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)
CLCN7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CLCN7-RELATED OSTEOPETROSIS
Tags
Green Green List (high evidence)
CLPB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
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
  • pancreatic agenesis and holoprosencephaly syndrome
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
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)
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)
COL18A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KNOBLOCH SYNDROME TYPE I
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
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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)
COL4A1
1 review
1 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
1 review
1 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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COL6A1 associated myopathy
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
  • DYSTONIA 27
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)
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)
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)
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 deficiency, hepatic, type II 600649
  • CPT II deficiency, lethal neonatal 608836
  • Myopathy due to CPT II deficiency 255110
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)
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)
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, 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
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)
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)
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)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743
Tags
Green Green List (high evidence)
CYP11B1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Aldosteronism, glucocorticoid-remediable 103900
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 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)
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)
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
1 review
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
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
  • SUBCORTICAL BAND HETEROTOPIA X-LINKED
  • LISSENCEPHALY X-LINKED TYPE 1
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 DIABILITY
  • Intellectual disability
  • Mental retardation, X-linked 102, 300958
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)
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)
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)
DMPK
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DYSTROPHIA MYOTONICA TYPE 1
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)
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)
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)
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)
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)
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)
DSP
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8 607450
  • Keratosis palmoplantaris striata II, 612908
  • Cardiomyopathy, dilated, with woolly hair and keratoderma 605676
  • Skin fragility-woolly hair syndrome 607655
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821
  • Epidermolysis bullosa, lethal acantholytic 609638
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)
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)
EBF3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability, Ataxia, and Facial Dysmorphism
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)
EDA
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1
  • ECTODERMAL DYSPLASIA TYPE 1
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ABCD SYNDROME
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)
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)
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)
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)
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
  • hydrops fetalis gene
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
  • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G
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 ACIDURIA TYPE 2A
Tags
Green Green List (high evidence)
ETFB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLUTARIC ACIDURIA TYPE 2B
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)
EXOSC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 1
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)
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
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 5
Tags
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)
FAM58A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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)
FAR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
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 614434
  • Cutis laxa 219100
Tags
Green Green List (high evidence)
FBN1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL CONTRACTURAL ARACHNODACTYLY
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
1 review
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
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)
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
1 review
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
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
  • CONGENITAL PRIMARY APHAKIA
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
  • CONGENITAL VARIANT OF RETT SYNDROME
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)
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)
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
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)
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)
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)
GBA
1 review
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
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
  • Polyglucosan body disease, adult form
  • 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)
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
1 review
1 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
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)
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)
GJB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VOHWINKEL SYNDROME
  • ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME
  • PALMOPLANTAR KERATODERMA WITH DEAFNESS
  • BART-PUMPHREY SYNDROME
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A
Tags
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)
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)
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)
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GNAS HYPERFUNCTION
  • ALBRIGHT HEREDITARY OSTEODYSTROPHY
  • ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
  • PSEUDOHYPOPARATHYROIDISM TYPE 1B
Tags
  • mosaicism
Green Green List (high evidence)
GNB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe Neurodevelopmental Disability, Hypotonia, and Seizures
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)
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)
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
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)
GRIN2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTISM
  • EPILEPTIC ENCEPHALOPATHY
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
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)
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)
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)
HBA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Thalassemia, alpha-, 604131
Tags
Green Green List (high evidence)
HBA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Thalassemia, alpha-, 604131
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)
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)
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)
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATARACT ZONULAR HSF4-RELATED
  • CATARACT MARNER TYPE
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
  • DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE
  • SCHWARTZ-JAMPEL SYNDROME
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
2 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)
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
  • SINGLETON-MERTEN SYNDROME
  • Aicardi-Goutieres syndrome 7, 615846
  • Singleton-Merten syndrome 1, 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRANIOECTODERMAL DYSPLASIA
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)
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)
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
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
  • BRACHYDACTYLY, TYPE A1
  • ACROCAPITOFEMORAL DYSPLASIA
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE
Tags
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)
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)
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)
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 170390
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
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 JARID1C-RELATED
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)
KIAA1109
1 review
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
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)
KIF1A
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
  • NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
Tags
Green Green List (high evidence)
KIF1BP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
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)
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
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)
KMT2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WIEDEMANN-STEINER SYNDROME
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)
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)
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)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Stuve-Wiedemann syndrome
  • Schwartz-Jampel type 2 syndrome
Tags
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
1 review
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)
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)
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)
LRRC6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DISKINESIA
Tags
Green Green List (high evidence)
LTBP3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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)
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)
MAPRE2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Circumferential Skin Creases Kunze Type
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)
MED12
1 review
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
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)
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
  • MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
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)
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)
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)
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
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
  • CLEFT LIP +/- CLEFT PALATE
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)
MTM1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYOTUBULAR MYOPATHY, X-LINKED
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
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATRIAL SEPTAL DEFECT TYPE 3
  • CARDIOMYOPATHY DILATED TYPE 1EE
  • CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14
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)
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
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)
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)
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)
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)
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)
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)
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)
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)
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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DENT DISEASE TYPE 2
  • LOWE OCULOCEREBRORENAL SYNDROME
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)
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)
OTX2
1 review
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)
PAFAH1B1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LISSENCEPHALY TYPE 1
  • SUBCORTICAL BAND HETEROTOPIA
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)
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)
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)
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)
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4
  • ZELLWEGER SYNDROME
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)
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)
PHF6
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BOERJESON-FORSSMAN-LEHMANN SYNDROME
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)
PIEZO1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • hydrops fetalis gene 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
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)
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)
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)
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)
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)
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)
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)
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
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
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)
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
  • POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
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)
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Syndromic congenital heart defects
Tags
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)
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)
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)
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
  • BASAL CELL NEVUS SYNDROME
Tags
Green Green List (high evidence)
PTDSS1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Tags
Green Green List (high evidence)
PTF1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
  • PANCREATIC AGENESIS
Tags
Green Green List (high evidence)
PTH1R
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHONDRODYSPLASIA BLOMSTRAND TYPE
  • EIKEN SKELETAL DYSPLASIA
  • JANSEN METAPHYSEAL CHONDRODYSPLASIA
  • PRIMARY FAILURE OF TOOTH ERUPTION
Tags
Green Green List (high evidence)
PTHLH
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRACHYDACTYLY, TYPE E2
  • CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Tags
Green Green List (high evidence)
PTPN11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEOPARD SYNDROME TYPE 1
  • NOONAN SYNDROME 1
Tags
Green Green List (high evidence)
PTS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Tags
Green Green List (high evidence)
PUF60
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PUF60 syndrome
Tags
Green Green List (high evidence)
PYCR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
Tags
Green Green List (high evidence)
QRICH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • QRICH1 syndrome
Tags
Green Green List (high evidence)
RAB18
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WARBURG MICRO SYNDROME TYPE 3
Tags
Green Green List (high evidence)
RAB23
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Tags
Green Green List (high evidence)
RAB3GAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WARBURG MICRO SYNDROME TYPE 1
Tags
Green Green List (high evidence)
RAB3GAP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MARTSOLF SYNDROME
Tags
Green Green List (high evidence)
RAC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental Disorders with Diverse Phenotypes
Tags
Green Green List (high evidence)
RAD21
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COHESINOPATHY
Tags
Green Green List (high evidence)
RAF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN SYNDROME 5
Tags
Green Green List (high evidence)
RAI1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SMITH-MAGENIS SYNDROME
Tags
Green Green List (high evidence)
RAPSN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FETAL AKINESIA DEFORMATION SEQUENCE
  • CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Tags
Green Green List (high evidence)
RARB
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Tags
Green Green List (high evidence)
RARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 6
Tags
Green Green List (high evidence)
RASA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PARKES WEBER SYNDROME
  • CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
Tags
Green Green List (high evidence)
RAX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA ISOLATED TYPE 3
Tags
Green Green List (high evidence)
RBM8A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Tags
Green Green List (high evidence)
RBPJ
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADAMS OLIVER SYNDROME
Tags
Green Green List (high evidence)
RECQL4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RAPADILINO SYNDROME
  • ROTHMUND-THOMSON SYNDROME
  • BALLER-GEROLD SYNDROME
Tags
Green Green List (high evidence)
RELN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LISSENCEPHALY 2
Tags
Green Green List (high evidence)
REN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Renal tubular dysgenesis 267430
Tags
Green Green List (high evidence)
RERE
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Phenocopy of Proximal 1p36 Deletions
Tags
Green Green List (high evidence)
RET
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RENAL AGENESIS
  • MULTIPLE ENDOCRINE NEOPLASIA IIB
Tags
Green Green List (high evidence)
RFX6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MARTINEZ-FRIAS SYNDROME
Tags
Green Green List (high evidence)
RIPK4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Tags
Green Green List (high evidence)
RIT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN SYNDROME 8
Tags
Green Green List (high evidence)
RMRP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARTILAGE-HAIR HYPOPLASIA
Tags
Green Green List (high evidence)
RNASEH2A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 4
Tags
Green Green List (high evidence)
RNASEH2B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 2
Tags
Green Green List (high evidence)
RNASEH2C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 3
Tags
Green Green List (high evidence)
RNASET2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
Tags
Green Green List (high evidence)
RNU4ATAC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Tags
Green Green List (high evidence)
ROBO1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • tetralogy of Fallot and septal defects
Tags
Green Green List (high evidence)
ROGDI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KOHLSCHAYTTER-TANZ SYNDROME
Tags
Green Green List (high evidence)
ROR2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ROR2-RELATED DISORDERS AR
  • BRACHYDACTYLY, TYPE B1
  • ROBINOW SYNDROME, AUTOSOMAL DOMINANT
Tags
Green Green List (high evidence)
RPGRIP1L
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MECKEL SYNDROME TYPE 5
  • COACH SYNDROME
  • JOUBERT SYNDROME TYPE 7
Tags
Green Green List (high evidence)
RPL11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Diamond-Blackfan anemia 7 612562
  • Diamond-Blackfan anemia with cleft palate and abnormal thumbs
Tags
Green Green List (high evidence)
RPL5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 6 612561
Tags
Green Green List (high evidence)
RPS10
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 9 613308
Tags
Green Green List (high evidence)
RPS17
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 4 612527
Tags
Green Green List (high evidence)
RPS19
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RPS19-RELATED DIAMOND-BLACKFAN ANEMIA
Tags
Green Green List (high evidence)
RPS26
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 10 613309
Tags
Green Green List (high evidence)
RPS6KA3
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COFFIN-LOWRY SYNDROME
Tags
Green Green List (high evidence)
RRM2B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mitochondrial depletion syndrome
Tags
Green Green List (high evidence)
RTEL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
Tags
Green Green List (high evidence)
RTTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BILATERAL DIFFUSE POLYMICROGYRIA
Tags
Green Green List (high evidence)
RUNX2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CLEIDOCRANIAL DYSPLASIA
Tags
Green Green List (high evidence)
RYR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Tags
Green Green List (high evidence)
SALL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TOWNES-BROCKS SYNDROME
Tags
Green Green List (high evidence)
SALL4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DUANE-RADIAL RAY SYNDROME
  • ACRO-RENAL-OCULAR SYNDROME
Tags
Green Green List (high evidence)
SAMD9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
Tags
Green Green List (high evidence)
SAMHD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICARDI-GOUTIERES SYNDROME
Tags
Green Green List (high evidence)
SATB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NONSPECIFIC SEVERE ID
  • SYNDROMAL PIERRE ROBIN SEQUENCE
  • CLEFT PALATE ISOLATED
Tags
Green Green List (high evidence)
SBDS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHWACHMAN-DIAMOND SYNDROME
Tags
Green Green List (high evidence)
SC5D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LATHOSTEROLOSIS
Tags
Green Green List (high evidence)
SCARF2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VAN DEN ENDE-GUPTA SYNDROME
Tags
Green Green List (high evidence)
SCN2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NONSPECIFIC SEVERE ID
  • INFANTILE EPILEPTIC ENCEPHALOPATHY
  • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
Tags
Green Green List (high evidence)
SCN4A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PARAMYOTONIA CONGENITA OF VON EULENBURG
  • HYPERKALEMIC PERIODIC PARALYSIS TYPE 1
  • HYPOKALEMIC PERIODIC PARALYSIS
Tags
Green Green List (high evidence)
SCO2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Tags
Green Green List (high evidence)
SDCCAG8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SENIOR-LOKEN SYNDROME 7
Tags
Green Green List (high evidence)
SEC23B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Tags
Green Green List (high evidence)
SEPSECS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 2D
Tags
Green Green List (high evidence)
SETBP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY
  • SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Tags
Green Green List (high evidence)
SETD5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Tags
Green Green List (high evidence)
SF3B4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
Tags
Green Green List (high evidence)
SGPL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Nephrotic syndrome type 14, 617575
Tags
Green Green List (high evidence)
SH3PXD2B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FRANK-TER HAAR SYNDROME
Tags
Green Green List (high evidence)
SHH
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOLOPROSENCEPHALY TYPE 3
  • TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME
  • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5
  • SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Tags
Green Green List (high evidence)
SHOC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
Tags
Green Green List (high evidence)
SHOX
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LANGER MESOMELIC DYSPLASIA
  • LERI-WEILL DYSCHONDROSTEOSIS
Tags
Green Green List (high evidence)
SIL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Green Green List (high evidence)
SIX3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOLOPROSENCEPHALY
Tags
Green Green List (high evidence)
SIX5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRANCHIOOTORENAL SYNDROME TYPE 2
Tags
Green Green List (high evidence)
SKI
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Tags
Green Green List (high evidence)
SLC10A7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
Tags
Green Green List (high evidence)
SLC12A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Bartter syndrome, type 1 601678
Tags
Green Green List (high evidence)
SLC12A6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
Tags
Green Green List (high evidence)
SLC13A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE
Tags
Green Green List (high evidence)
SLC16A2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Tags
Green Green List (high evidence)
SLC17A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SALLA DISEASE
  • INFANTILE SIALIC ACID STORAGE DISORDER
Tags
Green Green List (high evidence)
SLC25A20
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Tags
Green Green List (high evidence)
SLC25A24
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Gorlin-Chaudhry-Moss syndrome (GCMS)
  • Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Tags
Green Green List (high evidence)
SLC25A38
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Tags
Green Green List (high evidence)
SLC26A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
  • ACHONDROGENESIS TYPE 1B
  • ATELOSTEOGENESIS TYPE 2
  • DIASTROPHIC DYSPLASIA
Tags
Green Green List (high evidence)
SLC26A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Chloride diarrhea, congenital, Finnish type 214700
Tags
Green Green List (high evidence)
SLC27A4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ICHTHYOSIS PREMATURITY SYNDROME
Tags
Green Green List (high evidence)
SLC2A10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTERIAL TORTUOSITY SYNDROME
Tags
Green Green List (high evidence)
SLC33A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Tags
Green Green List (high evidence)
SLC35A2
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION
Tags
Green Green List (high evidence)
SLC35C1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C
Tags
Green Green List (high evidence)
SLC35D1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SCHNECKENBECKEN DYSPLASIA
Tags
Green Green List (high evidence)
SLC39A8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability with Cerebellar Atrophy
Tags
Green Green List (high evidence)
SLX4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA COMPLEMENTATION GROUP P
Tags
Green Green List (high evidence)
SMAD3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SMAD3-RELATED LOEYS-DIETZ SYNDROME
Tags
Green Green List (high evidence)
SMAD4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYHRE SYNDROME
  • JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
  • JUVENILE POLYPOSIS SYNDROME
Tags
Green Green List (high evidence)
SMARCA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NICOLAIDES-BARAITSER SYNDROME
  • COFFIN SIRIS
Tags
Green Green List (high evidence)
SMARCA4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RHABDOID TUMOR PREDISPOSITION SYNDROME 2
  • COFFIN SIRIS
Tags
Green Green List (high evidence)
SMARCB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RHABDOID PREDISPOSITION SYNDROME 1
  • ?COFFIN-SIRIS SYNDROME
Tags
Green Green List (high evidence)
SMC1A
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORNELIA DE LANGE SYNDROME TYPE 2
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
SMC3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORNELIA DE LANGE SYNDROME TYPE 3
Tags
Green Green List (high evidence)
SMCHD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Isolated Arhinia/Bosma Arhinia syndrome
Tags
Green Green List (high evidence)
SMN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Spinal muscular atrophy 253550
  • Spinal muscular atrophy 271150
  • Spinal muscular atrophy 253400
  • Spinal muscular atrophy 253300
Tags
Green Green List (high evidence)
SMO
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Curry-Jones Syndrome
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
SMOC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OPHTHALMOACROMELIC SYNDROME
Tags
Green Green List (high evidence)
SMPD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NIEMANN-PICK DISEASE TYPE B
  • NIEMANN-PICK DISEASE TYPE A
Tags
Green Green List (high evidence)
SNORD118
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Leukoencephalopathy with cerebral calcification & cysts
Tags
Green Green List (high evidence)
SNRPB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRO-COSTO-MANDIBULAR SYNDROME
Tags
Green Green List (high evidence)
SNX14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Tags
Green Green List (high evidence)
SON
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability, Congenital Malformations, and Failure to Thrive
Tags
Green Green List (high evidence)
SOS1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NOONAN SYNDROME 4
Tags
Green Green List (high evidence)
SOS2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Noonan syndrome 9, 616559
Tags
Green Green List (high evidence)
SOST
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • SOST-Related Sclerosing Bone Dysplasias 122860
  • Sclerosteosis 1, 269500
  • Craniodiaphyseal dysplasia, autosomal dominant, 122860
Tags
Green Green List (high evidence)
SOX10
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
  • KALLMANN SYNDROME WITH DEAFNESS
  • YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
  • WAARDENBURG SYNDROME TYPE 4C
  • WAARDENBURG SYNDROME TYPE 2E
Tags
Green Green List (high evidence)
SOX17
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • VESICOURETERAL REFLUX TYPE 3
Tags
Green Green List (high evidence)
SOX2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AEG SYNDROME
  • MICROPHTHALMIA SYNDROMIC TYPE 3
Tags
Green Green List (high evidence)
SOX3
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEX REVERSAL TYPE 3
  • MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY
Tags
Green Green List (high evidence)
SOX9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PIERRE ROBIN SEQUENCE
  • CAMPOMELIC DYSPLASIA
Tags
Green Green List (high evidence)
SPAG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.
Tags
Green Green List (high evidence)
SPATA5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Tags
Green Green List (high evidence)
SPEG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY
Tags
Green Green List (high evidence)
SPG11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPASTIC PARAPLEGIA-11
Tags
Green Green List (high evidence)
SPRED1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LEGIUS SYNDROME
Tags
Green Green List (high evidence)
SRCAP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FLOATING-HARBOR SYNDROME
Tags
Green Green List (high evidence)
SRD5A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias 264600
Tags
Green Green List (high evidence)
SRD5A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION
Tags
Green Green List (high evidence)
SRY
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 46XY SEX REVERSAL 1
Tags
Green Green List (high evidence)
STAG2
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • STAG2-related developmental delay with microcephaly and congenital anomalies
Tags
Green Green List (high evidence)
STAMBP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY├ÉCAPILLARY MALFORMATION (MIC-CAP) SYNDROME
Tags
Green Green List (high evidence)
STAR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA
Tags
Green Green List (high evidence)
STRA6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA SYNDROMIC TYPE 9
Tags
Green Green List (high evidence)
SUCLG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FATAL INFANTILE LACTIC ACIDOSIS
Tags
Green Green List (high evidence)
SUMF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Tags
Green Green List (high evidence)
SUZ12
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Weaver-like overgrowth syndrome
Tags
Green Green List (high evidence)
TAB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL HEART DISEASE, NONSYNDROMIC, 2
Tags
Green Green List (high evidence)
TAF1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Tags
Green Green List (high evidence)
TALDO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fetal hydrops
  • Transaldolase deficiency, 606003
Tags
Green Green List (high evidence)
TAPT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
Tags
Green Green List (high evidence)
TAZ
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARTH SYNDROME
Tags
Green Green List (high evidence)
TBC1D20
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Warburg micro syndrome 4 615663
  • Warburg micro syndrome 4
Tags
  • watchlist
Green Green List (high evidence)
TBC1D23
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Non-degenerative Pontocerebellar Hypoplasia
Tags
Green Green List (high evidence)
TBC1D24
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
  • DOORS SYNDROME
  • NON SYNDROMAL HEARING LOSS
Tags
Green Green List (high evidence)
TBCD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Early-Onset Neurodegenerative Encephalopathy
Tags
Green Green List (high evidence)
TBCE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
  • HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
  • KENNY-CAFFEY SYNDROME TYPE 1
Tags
  • watchlist
Green Green List (high evidence)
TBCK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Severe Infantile Syndromic Encephalopathy
Tags
Green Green List (high evidence)
TBL1XR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual disability with autism spectrum disorder
  • Pierpont syndrome
Tags
  • missense
Green Green List (high evidence)
TBX1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 22Q11.2 DELETION SYNDROME
Tags
Green Green List (high evidence)
TBX15
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature
  • Cousin Syndrome
Tags
Green Green List (high evidence)
TBX18
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
Tags
Green Green List (high evidence)
TBX20
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ATRIAL SEPTAL DEFECT TYPE 4
Tags
Green Green List (high evidence)
TBX3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ULNAR-MAMMARY SYNDROME
Tags
Green Green List (high evidence)
TBX4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SMALL PATELLA SYNDROME
Tags
Green Green List (high evidence)
TBX5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HOLT-ORAM SYNDROME
Tags
Green Green List (high evidence)
TBX6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Spondylocostal dysostosis 5 122600
Tags
Green Green List (high evidence)
TCF12
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORONAL CRANIOSYNOSTOSIS
Tags
Green Green List (high evidence)
TCF4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PITT-HOPKINS SYNDROME
Tags
Green Green List (high evidence)
TCIRG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Osteopetrosis, infantile malignant 259700
Tags
Green Green List (high evidence)
TCOF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TREACHER COLLINS SYNDROME TYPE 1
Tags
Green Green List (high evidence)
TCTN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Joubert syndrome 13 614173
  • JOUBERT SYNDROME AND RELATED DISORDERS
Tags
Green Green List (high evidence)
TCTN2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME AND RELATED DISORDERS
Tags
Green Green List (high evidence)
TCTN3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MOHR-MAJEWSKI SYNDROME
Tags
Green Green List (high evidence)
TFAP2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRANCHIOOCULOFACIAL SYNDROME
Tags
Green Green List (high evidence)
TFAP2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHAR SYNDROME
Tags
Green Green List (high evidence)
TGDS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CATEL-MANZKE SYNDROME
Tags
Green Green List (high evidence)
TGFB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LOEYS-DIETZ SYNDROME, TYPE 4
Tags
Green Green List (high evidence)
TGFB3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LOEYS-DIETZ SYNDROME
Tags
Green Green List (high evidence)
TGFBR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LOEYS-DIETZ SYNDROME TYPE 2A
  • LOEYS-DIETZ SYNDROME TYPE 1A
  • AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5
Tags
Green Green List (high evidence)
TGFBR2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LOEYS-DIETZ SYNDROME
  • TGFBR2-RELATED LOEYS-DIETZ SYNDROME
Tags
Green Green List (high evidence)
TGIF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Holoprosencephaly 4 142946
  • HOLOPROSENCEPHALY
Tags
Green Green List (high evidence)
TGM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 242300
Tags
Green Green List (high evidence)
THOC6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Beaulieu-Boycott-Innes syndrome
Tags
Green Green List (high evidence)
THRA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Tags
Green Green List (high evidence)
TINF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Tags
Green Green List (high evidence)
TMCO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Tags
Green Green List (high evidence)
TMEM138
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Joubert syndrome 16 614465
Tags
Green Green List (high evidence)
TMEM165
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
Tags
Green Green List (high evidence)
TMEM231
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Joubert syndrome 20 614970
  • Meckel syndrome 11 615397
Tags
Green Green List (high evidence)
TMEM237
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME 14
Tags
Green Green List (high evidence)
TMEM5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE COBBLESTONE LISSENCEPHALY
Tags
  • new-gene-name
Green Green List (high evidence)
TMEM67
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOUBERT SYNDROME TYPE 6
  • MECKEL SYNDROME TYPE 3
  • COACH SYNDROM
  • NEPHRONOPHTHISIS TYPE 11
Tags
Green Green List (high evidence)
TNNI2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 2B 601680
Tags
Green Green List (high evidence)
TNNT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Nemaline myopathy, Amish type 605355
Tags
Green Green List (high evidence)
TOP3A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Bloom Syndrome like Disorder
Tags
Green Green List (high evidence)
TP63
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE
  • ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
  • SPLIT-HAND/FOOT MALFORMATION TYPE 4
  • ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
  • LIMB-MAMMARY SYNDROME
  • NON-SYNDROMIC OROFACIAL CLEFT TYPE 8
  • ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
Tags
Green Green List (high evidence)
TPM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS, DISTAL, TYPE 1
  • Arthrogryposis multiplex congenita, distal, type 1, 108120
  • Arthrogryposis, distal, type 2B, 601680
Tags
Green Green List (high evidence)
TPM3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Congenital fiber-type disproportion myopathy 255310
Tags
Green Green List (high evidence)
TRAF7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental Delay, Congenital Anomalies, and Dysmorphic Features
  • Cardiac, facial, and digital anomalies with developmental delay, 618164
Tags
Green Green List (high evidence)
TRAPPC9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13
Tags
Green Green List (high evidence)
TREX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Tags
Green Green List (high evidence)
TRIM37
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MULIBREY NANISM
Tags
Green Green List (high evidence)
TRIP11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ACHONDROGENESIS TYPE 1A
Tags
Green Green List (high evidence)
TRIP12
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TRIP12-related intellectual disability with/without autism spectrum disorder
Tags
Green Green List (high evidence)
TRIP4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Tags
Green Green List (high evidence)
TRPS1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1
Tags
Green Green List (high evidence)
TRPV4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • METATROPIC DYSPLASIA
  • SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Tags
Green Green List (high evidence)
TRPV6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Transient Neonatal Hyperparathyroidism
  • Hyperparathyroidism, transient neonatal, 618188
Tags
Green Green List (high evidence)
TSC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TUBEROUS SCLEROSIS TYPE 1
Tags
Green Green List (high evidence)
TSC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LYMPHANGIOLEIOMYOMATOSIS
  • TUBEROUS SCLEROSIS TYPE 2
Tags
Green Green List (high evidence)
TSEN54
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
  • Pontocerebellar hypoplasia type 2A, 277470
  • Pontocerebellar hypoplasia type 4, 225753
Tags
Green Green List (high evidence)
TTC21B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Tags
Green Green List (high evidence)
TTC37
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TRICHOHEPATOENTERIC SYNDROME
Tags
Green Green List (high evidence)
TTC7A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTESTINAL ATRESIA, MULTIPLE
Tags
Green Green List (high evidence)
TTC8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETINITIS PIGMENTOSA TYPE 51
  • BARDET-BIEDL SYNDROME TYPE 8
Tags
Green Green List (high evidence)
TTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • congenital titinopathy with arthrogryposis
Tags
Green Green List (high evidence)
TUBA1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
  • LISSENCEPHALY TYPE 3
Tags
Green Green List (high evidence)
TUBA8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
Tags
Green Green List (high evidence)
TUBB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
  • Circumferential Skin Creases Kunze Type
Tags
Green Green List (high evidence)
TUBB2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
Tags
Green Green List (high evidence)
TUBB2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POLYMICROGYRIA ASYMMETRIC
Tags
Green Green List (high evidence)
TUBB4A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Tags
Green Green List (high evidence)
TUBGCP6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION
Tags
Green Green List (high evidence)
TWIST1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SAETHRE-CHOTZEN SYNDROME
  • CRANIOSYNOSTOSIS, TYPE 1
Tags
Green Green List (high evidence)
TWIST2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ABLEPHARON MACROSTOMIA SYNDROME
  • SETLEIS SYNDROME
  • Ablepharon-macrostomia syndrome, 200110
  • Barber-Say syndrome, 209885
Tags
  • watchlist
Green Green List (high evidence)
TXNL4A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BURN MCKEOWN SYNDROME
Tags
Green Green List (high evidence)
UBA1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile 301830
Tags
Green Green List (high evidence)
UBE3B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BLEPHAROPHIMOSIS-MENTAL RETARDATION
Tags
Green Green List (high evidence)
UBR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JOHANSON-BLIZZARD SYNDROME
Tags
Green Green List (high evidence)
UMPS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OROTIC ACIDURIA TYPE 1
Tags
Green Green List (high evidence)
UROS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL ERYTHROPOIETIC PORPHYRIA
Tags
Green Green List (high evidence)
VIPAS39
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
Tags
Green Green List (high evidence)
VLDLR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1
Tags
Green Green List (high evidence)
VPS13B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • COHEN SYNDROME
Tags
Green Green List (high evidence)
VPS33B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Tags
Green Green List (high evidence)
VPS53
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851
  • Progressive cerebella-cerebral atrophy type 2
Tags
Green Green List (high evidence)
VSX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES
  • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3
  • MICROPHTHALMIA ISOLATED TYPE 2
Tags
Green Green List (high evidence)
WDPCP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 15
Tags
Green Green List (high evidence)
WDR19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ASPHYXIATING THORACIC DYSTROPHY 5
  • CRANIOECTODERMAL DYSPLASIA 4
Tags
Green Green List (high evidence)
WDR26
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Tags
Green Green List (high evidence)
WDR34
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SHORT-RIB POLYDACTYLY SYNDROME TYPE III
  • SEVERE ASPHYXIATING THORACIC DYSPLASIA
Tags
Green Green List (high evidence)
WDR35
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CRANIOECTODERMAL DYSPLASIA 2
  • SHORT RIB-POLYDACTYLY SYNDROME, TYPE V
Tags
Green Green List (high evidence)
WDR60
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • JEUNE SYNDROMES
  • SHORT-RIB POLYDACTYLY
Tags
Green Green List (high evidence)
WDR62
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
Tags
Green Green List (high evidence)
WNT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • OSTEOGENESIS IMPERFECTA
Tags
Green Green List (high evidence)
WNT10B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SPLIT-HAND/FOOT MALFORMATION TYPE 6
Tags
Green