Description
This panel is a component of super panel 'R27 Paediatric disorders' and is not directly used for analysis in the NHS Genomic Medicine Service outside of this context. Changes made to this panel will automatically be updated in the relevant super panel(s). 
  
This panel represents gene-disease associations from the Developmental Disorders (DD) panel in the Gene2Phenotype (G2P) database (DDG2P). The scope of the DD panel is ‘Severe undiagnosed neurodevelopmental disorder and/or congenital anomalies, abnormal growth parameters, dysmorphic features, and unusual behavioural phenotypes’.

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

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

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

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

Please note that the above criteria for mapping DDG2P confidence categories to PanelApp ratings are used from version 3.11 onwards. Previous versions of the panel were based on earlier DD panel downloads from G2P (downloaded 05 November 2019 or before). In these previous versions the DDG2P confidence categories that existed at that time were mapped to PanelApp ratings as follows:
   - Confirmed: Green rating 
   - Both RD and IF: Green rating (formerly 'Both DD and IF')  
   - Child IF: Amber rating  
   - Probable: Amber rating  
   - Possible: Red rating 
 
External reviews added to this panel will not be reviewed and curated as it represents the knowledge from an external resource. Reviewers are therefore recommended to add their comments to other relevant GMS panels. This panel will continue to be periodically updated to reflect changes made in the G2P database.

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

16 reviewers

  • Tracy Lester (Genetics laboratory, Oxford UK)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Lu Raymond (university of cambridge )

    Group: GeCIP domain
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • alisdair mcneill (Sheffield childrens hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Kate Downes (Uni of Cambridge / CUH)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

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

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Irina Ziravecka (BKUS)

    Group: Other
    Workplace: Other

2350 Entities

2350 reviewed, 2014 green

List Entity Reviews Mode of inheritance Details
2350 Entitiess
Green Green List (high evidence)
AAAS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
Tags
Green Green List (high evidence)
AARS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT
Tags
  • new-gene-name
Green Green List (high evidence)
AASS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Hyperlysinemia, OMIM:238700
  • Hyperlysinemia (disease), MONDO:0009388
Tags
Green Green List (high evidence)
ABAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ABAT-related GABA-transaminase Deficiency
Tags
Green Green List (high evidence)
ABCB11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847
Tags
Green Green List (high evidence)
ABCB7
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
Tags
Green Green List (high evidence)
ABCC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473
Tags
Green Green List (high evidence)
ABCC9
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
Tags
Green Green List (high evidence)
ABCD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADRENOLEUKODYSTROPHY, X-LINKED 300100
Tags
Green Green List (high evidence)
ABCD4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857
Tags
Green Green List (high evidence)
ABHD16A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum
Tags
Green Green List (high evidence)
ABHD5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHANARIN-DORFMAN SYNDROME 275630
Tags
Green Green List (high evidence)
ABL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital heart defects and skeletal malformations 617602
Tags
Green Green List (high evidence)
ACAD9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126
Tags
Green Green List (high evidence)
ACADM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450
Tags
Green Green List (high evidence)
ACADS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470
Tags
Green Green List (high evidence)
ACADVL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475
Tags
Green Green List (high evidence)
ACAN
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813
  • SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361
Tags
Green Green List (high evidence)
ACAT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALPHA-METHYLACETOACETIC ACIDURIA 203750
Tags
Green Green List (high evidence)
ACBD5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACBD5 deficiency, OMIM:618863
Tags
Green Green List (high evidence)
ACER3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACER3-related leukodystrophy, OMIM:617762
Tags
Green Green List (high evidence)
ACO2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559
Tags
Green Green List (high evidence)
ACOX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
Tags
Green Green List (high evidence)
ACP5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
Tags
Green Green List (high evidence)
ACSL4
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 63 300387
  • ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194
Tags
Green Green List (high evidence)
ACTA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEMALINE MYOPATHY 3, 161800
Tags
Green Green List (high evidence)
ACTA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788
  • MOYAMOYA DISEASE 5 614042
Tags
Green Green List (high evidence)
ACTB
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARAITSER-WINTER SYNDROME
  • ACTB Haploinsufficiency syndtome
Tags
Green Green List (high evidence)
ACTG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARAITSER-WINTER SYNDROME
Tags
Green Green List (high evidence)
ACTL6B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468
  • INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
Tags
Green Green List (high evidence)
ACVR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100
Tags
Green Green List (high evidence)
ACY1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMINOACYLASE-1 DEFICIENCY 609924
Tags
Green Green List (high evidence)
ADA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADENOSINE DEAMINASE DEFICIENCY 102700
Tags
Green Green List (high evidence)
ADAM22
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADAM22-associated developmental and epileptic encephalopathy
Tags
Green Green List (high evidence)
ADAMTS18
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KNOBLOCH SYNDROME 2 608454
Tags
Green Green List (high evidence)
ADAMTS9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Nephronophthisis Related Ciliopathy
Tags
  • gene-checked
Green Green List (high evidence)
ADAMTSL2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GELEOPHYSIC DYSPLASIA 1
Tags
Green Green List (high evidence)
ADAR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010
  • DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400
Tags
Green Green List (high evidence)
ADCY5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADCY5-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
ADGRG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POLYMICROGYRIA 606854
Tags
Green Green List (high evidence)
ADGRG6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503
Tags
Green Green List (high evidence)
ADNP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873
Tags
Green Green List (high evidence)
ADPRHL2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170
  • neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Tags
  • new-gene-name
Green Green List (high evidence)
ADSL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADENYLOSUCCINASE DEFICIENCY 103050
Tags
Green Green List (high evidence)
AFF2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRAGILE X-E MENTAL RETARDATION SYNDROME 309548
Tags
Green Green List (high evidence)
AFF3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Skeletal dysplasia with severe neurological disease
Tags
Green Green List (high evidence)
AFF4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORNELIA DE LANGE-LIKE SYNDROME
Tags
Green Green List (high evidence)
AGA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ASPARTYLGLUCOSAMINURIA 208400
Tags
Green Green List (high evidence)
AGK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SENGERS SYNDROME 212350
Tags
Green Green List (high evidence)
AGL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOGEN STORAGE DISEASE TYPE III 232400
Tags
Green Green List (high evidence)
AGO1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AGO1-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
AGPS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121
Tags
Green Green List (high evidence)
AGTPBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276
Tags
Green Green List (high evidence)
AGXT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPEROXALURIA, PRIMARY, TYPE 1 259900
Tags
Green Green List (high evidence)
AHDC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • XIA-GIBBS SYNDROME 615829
Tags
Green Green List (high evidence)
AHI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 614615
Tags
Green Green List (high evidence)
AIFM1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816
  • COWCHOCK SYNDROME 310490
Tags
Green Green List (high evidence)
AIMP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKODYSTROPHY, HYPOMYELINATING, 3 260600
Tags
Green Green List (high evidence)
AIPL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEBER CONGENITAL AMAUROSIS 4 604393
Tags
Green Green List (high evidence)
AIRE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
Tags
Green Green List (high evidence)
AK2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETICULAR DYSGENESIS 267500
Tags
Green Green List (high evidence)
AKR1D1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
Tags
Green Green List (high evidence)
AKT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROTEUS SYNDROME 176920
Tags
  • mosaicism
Green Green List (high evidence)
AKT2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900
Tags
Green Green List (high evidence)
AKT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEMIMEGALENCEPHALY AKT3 603387
Tags
  • mosaicism
Green Green List (high evidence)
ALDH18A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162
  • CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603
  • MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652
Tags
Green Green List (high evidence)
ALDH1A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia
Tags
Green Green List (high evidence)
ALDH1A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANOPHTHALMIA/MICROPHTHALMIA
Tags
Green Green List (high evidence)
ALDH3A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SJOEGREN-LARSSON SYNDROME 270200
Tags
Green Green List (high evidence)
ALDH4A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERPROLINEMIA TYPE 2 239510
Tags
Green Green List (high evidence)
ALDH5A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
Tags
Green Green List (high evidence)
ALDH7A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYRIDOXINE-DEPENDENT EPILEPSY 266100
Tags
Green Green List (high evidence)
ALDOA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOGEN STORAGE DISEASE XII 611881
Tags
Green Green List (high evidence)
ALG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG1-CDG 300141
Tags
Green Green List (high evidence)
ALG11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG11-CDG 319490
Tags
Green Green List (high evidence)
ALG12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143
Tags
Green Green List (high evidence)
ALG13
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS 300884
  • EPILEPTIC ENCEPHALOPATHIES.
Tags
Green Green List (high evidence)
ALG2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG2-CDG 237149
Tags
Green Green List (high evidence)
ALG3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG3-CDG 237128
Tags
Green Green List (high evidence)
ALG6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG6-CDG 237124
Tags
Green Green List (high evidence)
ALG8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ih OMIM:608104
  • ALG8-CDG MONDO:0011969
Tags
Green Green List (high evidence)
ALG9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG9-CDG 300153
Tags
Green Green List (high evidence)
ALKBH8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504
Tags
Green Green List (high evidence)
ALMS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALSTROM SYNDROME 203800
Tags
Green Green List (high evidence)
ALPL
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOPHOSPHATASIA 241500
Tags
Green Green List (high evidence)
ALS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALS2-RELATED DISORDERS 240656
Tags
Green Green List (high evidence)
ALX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRONTONASAL DYSPLASIA TYPE 3 136760
Tags
Green Green List (high evidence)
ALX3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRONTONASAL DYSPLASIA TYPE 1 136760
Tags
Green Green List (high evidence)
ALX4
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PARIETAL FORAMINA 2 609597
  • FRONTONASAL DYSPLASIA 2 613451
Tags
Green Green List (high evidence)
AMER1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373
Tags
Green Green List (high evidence)
AMOTL1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
  • Other
Phenotypes
  • tall stature
  • cardiac anomalies
  • orofacial clefting
  • AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature
Tags
  • gene-checked
Green Green List (high evidence)
AMPD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA
Tags
Green Green List (high evidence)
AMT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCINE ENCEPHALOPATHY 605899
Tags
Green Green List (high evidence)
ANAPC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Rothmund-Thomson Syndrome Type 1
Tags
Green Green List (high evidence)
ANKH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHONDROCALCINOSIS 2 118600
  • CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000
Tags
Green Green List (high evidence)
ANKRD11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KBG SYNDROME 148050
Tags
Green Green List (high evidence)
ANKRD17
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANKRD17-associated neurodevelopmental disorder
Tags
Green Green List (high evidence)
ANKRD26
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • THROMBOCYTOPENIA 2 188000
Tags
Green Green List (high evidence)
ANO5
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307
  • GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
Tags
Green Green List (high evidence)
ANTXR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GAPO syndrome, OMIM:230740
Tags
Green Green List (high evidence)
AP1G1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AP1G1-related intellectual disability, biallelic
  • AP1G1-related intellectual disability and epilepsy, monoallelic
Tags
Green Green List (high evidence)
AP1S2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 59 300630
Tags
Green Green List (high evidence)
AP2M1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental and Epileptic Encephalopathy
Tags
Green Green List (high evidence)
AP2S1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AP2S1-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
AP3B2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Epileptic Encephalopathy with Optic Atrophy
Tags
Green Green List (high evidence)
AP4B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066
Tags
Green Green List (high evidence)
AP4E1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
Tags
Green Green List (high evidence)
AP4M1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 612936
Tags
Green Green List (high evidence)
AP4S1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067
Tags
Green Green List (high evidence)
APC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
Tags
Green Green List (high evidence)
APOPT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
  • new-gene-name
Green Green List (high evidence)
APTX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
Tags
Green Green List (high evidence)
AR
4 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200
  • ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
Tags
Green Green List (high evidence)
ARCN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Microcephalic dwarfism
Tags
Green Green List (high evidence)
ARF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615
Tags
Green Green List (high evidence)
ARF3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARF3-related neurodevelopmental disorder
Tags
  • de novo
  • gene-checked
Green Green List (high evidence)
ARFGEF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARFGEF1-related intellectual disability and epilepsy
Tags
Green Green List (high evidence)
ARFGEF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097
Tags
Green Green List (high evidence)
ARG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARGININEMIA 207800
Tags
Green Green List (high evidence)
ARHGAP31
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADAMS-OLIVER SYNDROME 1 100300
Tags
Green Green List (high evidence)
ARHGAP35
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARHGAP35-related developmental disorder (monoallelic)
Tags
  • gene-checked
Green Green List (high evidence)
ARHGEF9
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607
Tags
Green Green List (high evidence)
ARID1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COFFIN-SIRIS SYNDROME 135900
Tags
Green Green List (high evidence)
ARID1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900
  • COFFIN SIRIS SYNDROME 135900
Tags
Green Green List (high evidence)
ARID2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARID2-Coffin-Siris like disorder
Tags
Green Green List (high evidence)
ARL3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME, 614615
Tags
Green Green List (high evidence)
ARL6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA TYPE 55 613575
  • BARDET-BIEDL SYNDROME TYPE 3 209900
Tags
Green Green List (high evidence)
ARMC4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 23 615451
Tags
  • new-gene-name
Green Green List (high evidence)
ARMC9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30
Tags
Green Green List (high evidence)
ARPC4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARPC4-related microcephaly and developmental delay
Tags
Green Green List (high evidence)
ARSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARYLSULFATASE A DEFICIENCY 250100
Tags
Green Green List (high evidence)
ARSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 6 253200
Tags
Green Green List (high evidence)
ARSE
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950
Tags
  • new-gene-name
Green Green List (high evidence)
ARX
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED ARX-RELATED 300419
  • AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004
  • LISSENCEPHALY X-LINKED TYPE 2 300215
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350
  • PARTINGTON SYNDROME 309510
Tags
Green Green List (high evidence)
ASAH1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FARBER LIPOGRANULOMATOSIS 228000
  • SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950
Tags
Green Green List (high evidence)
ASH1L
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
ASL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARGININOSUCCINATE LYASE DEFICIENCY 207900
Tags
Green Green List (high evidence)
ASNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Asparagine synthetase deficiency, OMIM:615574
Tags
Green Green List (high evidence)
ASPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CANAVAN DISEASE 271900
Tags
Green Green List (high evidence)
ASPH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
Tags
Green Green List (high evidence)
ASPM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Tags
Green Green List (high evidence)
ASS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CITRULLINEMIA TYPE I 615700
Tags
Green Green List (high evidence)
ASXL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BOHRING-OPITZ SYNDROME 605039
Tags
Green Green List (high evidence)
ASXL2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental delay, macrocephaly, and dysmorphic features
Tags
Green Green List (high evidence)
ASXL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BAINBRIDGE-ROPERS SYNDROME 615485
Tags
Green Green List (high evidence)
ATAD3A
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
  • ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
Tags
Green Green List (high evidence)
ATG7
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
  • Literature
Phenotypes
  • ATG7-related intellectual disability and ataxia, OMIM:619422
  • developmental delay
  • ataxia
Tags
Green Green List (high evidence)
ATIC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICA-RIBOSURIA 608688
Tags
Green Green List (high evidence)
ATL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATL1-associated hereditary spastic paraplegia
Tags
Green Green List (high evidence)
ATM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATAXIA-TELANGIECTASIA 208900
Tags
Green Green List (high evidence)
ATN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Tags
Green Green List (high evidence)
ATP13A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PARKINSON DISEASE 9 606693
Tags
Green Green List (high evidence)
ATP1A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Renal Hypomagnesemia Refractory Seizures and Intellectual Disability
Tags
Green Green List (high evidence)
ATP1A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP1A2-related epileptic encephalopathy
  • MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related
  • Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy
Tags
Green Green List (high evidence)
ATP1A3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RAPID-ONSET DYSTONIA-PARKINSONISM 128235
  • ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290
Tags
Green Green List (high evidence)
ATP2B1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP2B1-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
ATP5A1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP5F1A-related mitochondrial encephalopathy, OMIM:615228
  • ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia
Tags
  • new-gene-name
Green Green List (high evidence)
ATP5D
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP5F1D metabolic disorder
Tags
  • new-gene-name
Green Green List (high evidence)
ATP6V0A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP6V0A1-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
ATP6V0C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP6V0C-related Developmental Disorder
Tags
Green Green List (high evidence)
ATP6V1A
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autosomal Recessive Cutis Laxa (AR)
  • Epileptic encephalopathy, infantile or early childhood, 3 (AD)
Tags
Green Green List (high evidence)
ATP6V1B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
Tags
Green Green List (high evidence)
ATP6V1B2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZIMMERMANN-LABAND SYNDROME
Tags
Green Green List (high evidence)
ATP6V1E1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa
Tags
Green Green List (high evidence)
ATP7A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489
  • OCCIPITAL HORN SYNDROME 304150
  • MENKES DISEASE 309400
Tags
Green Green List (high evidence)
ATP8B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600
Tags
Green Green List (high evidence)
ATP9A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP9A-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
ATR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SECKEL SYNDROME TYPE 1 210600
Tags
Green Green List (high evidence)
ATRX
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580
  • ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040
Tags
Green Green List (high evidence)
AUH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950
Tags
Green Green List (high evidence)
AUTS2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY 612100
Tags
Green Green List (high evidence)
B3GALNT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181
Tags
Green Green List (high evidence)
B3GALT6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640
  • EHLERS-DANLOS SYNDROME 130070
Tags
Green Green List (high evidence)
B4GALT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091
Tags
Green Green List (high evidence)
B4GALT7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070
Tags
Green Green List (high evidence)
B9D1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MECKEL SYNDROME 9 614209
Tags
Green Green List (high evidence)
BANF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NESTOR-GUILLERMO PROGERIA SYNDROME 614008
Tags
Green Green List (high evidence)
BAP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BAP1-associated neurodevelopmental syndrome
Tags
Green Green List (high evidence)
BBS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 10 209900
Tags
Green Green List (high evidence)
BBS12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 12 209900
Tags
Green Green List (high evidence)
BBS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 2 209900
Tags
Green Green List (high evidence)
BBS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 4 209900
Tags
Green Green List (high evidence)
BBS5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 5 209900
Tags
Green Green List (high evidence)
BBS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 7 209900
Tags
Green Green List (high evidence)
BBS9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 9 209900
Tags
Green Green List (high evidence)
BCAP31
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Tags
Green Green List (high evidence)
BCAS3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy
Tags
Green Green List (high evidence)
BCKDHA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAPLE SYRUP URINE DISEASE 248600
Tags
Green Green List (high evidence)
BCKDHB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAPLE SYRUP URINE DISEASE 248600
Tags
Green Green List (high evidence)
BCL11A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
BCL11B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BCL11B-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
BCOR
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA SYNDROMIC TYPE 2 300166
Tags
Green Green List (high evidence)
BCS1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GRACILE SYNDROME 603358
Tags
Green Green List (high evidence)
BFSP2
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597
Tags
Green Green List (high evidence)
BGN
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Severe syndromic form of thoracic aortic aneurysm & dissection
  • X-Linked Spondyloepimetaphyseal Dysplasia
Tags
Green Green List (high evidence)
BHLHA9
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPLIT HAND AND FOOT MALFORMATION 220600
  • MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432
Tags
Green Green List (high evidence)
BICD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Tags
Green Green List (high evidence)
BICRA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BICRA-related Developmental Disorder
Tags
Green Green List (high evidence)
BIN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CENTRONUCLEAR MYOPATHY 2 255200
Tags
Green Green List (high evidence)
BLM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BLOOM SYNDROME 210900
Tags
Green Green List (high evidence)
BLOC1S6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HERMANSKY-PUDLAK SYNDROME 9 614171
Tags
Green Green List (high evidence)
BMP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
Tags
Green Green List (high evidence)
BMP4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA, SYNDROMIC 6 607932
  • OROFACIAL CLEFT 11 600625
Tags
Green Green List (high evidence)
BMPER
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DIAPHANOSPONDYLODYSOSTOSIS 608022
Tags
Green Green List (high evidence)
BMPR1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY TYPE A2 112600
Tags
Green Green List (high evidence)
BNC2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital Lower Urinary Tract Obstruction
Tags
Green Green List (high evidence)
BOLA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299
Tags
Green Green List (high evidence)
BPTF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Tags
Green Green List (high evidence)
BRAF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEOPARD SYNDROME TYPE 3 613707
  • NOONAN SYNDROME TYPE 7 613706
  • CARDIOFACIOCUTANEOUS SYNDROME 115150
Tags
Green Green List (high evidence)
BRAT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 614498
Tags
Green Green List (high evidence)
BRCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY 616579
Tags
Green Green List (high evidence)
BRCA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724
Tags
Green Green List (high evidence)
BRD4
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORNELIA DE LANGE-LIKE SYNDROME
Tags
  • gene-checked
Green Green List (high evidence)
BRF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRF1-related cerebellofaciodental syndrome, OMIM:616202
Tags
Green Green List (high evidence)
BRIP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054
Tags
Green Green List (high evidence)
BRPF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRPF1 associated syndromic intellectual disability with ptosis
Tags
Green Green List (high evidence)
BRSK2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental Disorder
Tags
  • gene-checked
Green Green List (high evidence)
BRWD3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 93 300659
Tags
Green Green List (high evidence)
BSND
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARTTER SYNDROME TYPE 4A 602522
Tags
Green Green List (high evidence)
BTD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BIOTINIDASE DEFICIENCY 253260
Tags
Green Green List (high evidence)
BUB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BUB1-related microcephaly and developmental disorder
Tags
Green Green List (high evidence)
BUB1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
Tags
Green Green List (high evidence)
C11orf70
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
  • gene-checked
  • new-gene-name
Green Green List (high evidence)
C12orf57
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340
  • TEMTAMY SYNDROME
Tags
Green Green List (high evidence)
C12orf65
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559
Tags
  • new-gene-name
Green Green List (high evidence)
C1QBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Tags
Green Green List (high evidence)
C21orf2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Axial Spondylometaphyseal Dysplasia
Tags
  • new-gene-name
Green Green List (high evidence)
C21orf59
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
  • new-gene-name
Green Green List (high evidence)
C2CD3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OROFACIODIGITAL SYNDROME XIV 615948
Tags
Green Green List (high evidence)
C2orf71
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA 54 613428
Tags
  • new-gene-name
Green Green List (high evidence)
C4orf26
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMYELOGENESIS 614832
Tags
  • new-gene-name
Green Green List (high evidence)
C5orf42
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 614615
Tags
  • new-gene-name
Green Green List (high evidence)
C8orf37
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONE-ROD DYSTROPHY 16 614500
Tags
  • new-gene-name
Green Green List (high evidence)
CA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
Tags
Green Green List (high evidence)
CA5A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751
Tags
Green Green List (high evidence)
CA8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227
Tags
Green Green List (high evidence)
CACNA1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
CACNA1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497
Tags
Green Green List (high evidence)
CACNA1C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CACNA1D
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474
  • SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896
Tags
Green Green List (high evidence)
CACNA1E
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Tags
Green Green List (high evidence)
CACNA1G
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • CACNA1G-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
CAD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Uridine-responsive epileptic encephalopathy
Tags
Green Green List (high evidence)
CAMK2A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CAMK2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CAMK2G
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522
Tags
Green Green List (high evidence)
CAMSAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CAMSAP1-associated neuronal migration disorder
Tags
Green Green List (high evidence)
CAMTA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756
Tags
Green Green List (high evidence)
CANT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 1, OMIM:251450
Tags
Green Green List (high evidence)
CAPRIN1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTISM OR INTELLECTUAL DISABILITY
Tags
  • gene-checked
Green Green List (high evidence)
CARS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Microcephaly Developmental Delay and Brittle Hair and Nails
Tags
  • new-gene-name
Green Green List (high evidence)
CARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy with complex movement disorder and regression
Tags
Green Green List (high evidence)
CASK
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED CASK-RELATED 300749
  • FG SYNDROME TYPE 4 300422
  • MRX WITH/WITHOUT NYSTAGMUS 300749
Tags
Green Green List (high evidence)
CBL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563
Tags
Green Green List (high evidence)
CBS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
Tags
Green Green List (high evidence)
CC2D1A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 9 612285
  • COACH SYNDROME 216360
  • MECKEL SYNDROME, TYPE 6 612284
Tags
Green Green List (high evidence)
CCBE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
Tags
Green Green List (high evidence)
CCDC103
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
CCDC114
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC115
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Disorder of Golgi homeostasis
Tags
Green Green List (high evidence)
CCDC151
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILLARY DYSKINEASIA 616037
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC22
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CCDC32
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CCDC32-associated neurodevelopmental syndrome
Tags
  • gene-checked
Green Green List (high evidence)
CCDC39
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 14 613807
Tags
Green Green List (high evidence)
CCDC40
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 15 613808
Tags
Green Green List (high evidence)
CCDC47
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay
Tags
  • gene-checked
Green Green List (high evidence)
CCDC65
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
CCDC78
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807
Tags
Green Green List (high evidence)
CCDC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • THREE M SYNDROME 3 614205
Tags
Green Green List (high evidence)
CCDC88C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600
Tags
Green Green List (high evidence)
CCND2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387
Tags
Green Green List (high evidence)
CCNO
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 29 615872
Tags
Green Green List (high evidence)
CD151
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057
Tags
Green Green List (high evidence)
CDC42
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CDC42-related Neurodevelopmental Disorder
Tags
Green Green List (high evidence)
CDC45
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Meier-Gorlin Syndrome and Craniosynostosis
Tags
Green Green List (high evidence)
CDC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 5 613805
Tags
Green Green List (high evidence)
CDH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Blepharo-cheiro-dontic syndrome
Tags
Green Green List (high evidence)
CDH11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CDH11-related, OMIM:211380
Tags
Green Green List (high evidence)
CDH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Tags
Green Green List (high evidence)
CDH23
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • USHER SYNDROME TYPE 1D 601067
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386
Tags
Green Green List (high evidence)
CDH3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EEM SYNDROME 225280
  • HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553
Tags
Green Green List (high evidence)
CDK13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Tags
Green Green List (high evidence)
CDK19
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CDK19-associated Intellectual Disability and Epileptic Encephalopathy
Tags
Green Green List (high evidence)
CDK5RAP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Tags
Green Green List (high evidence)
CDK8
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CDKL5
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672
Tags
Green Green List (high evidence)
CDKN1C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BECKWITH-WIEDEMANN SYNDROME 130650
  • IMAGe Syndrome
Tags
Green Green List (high evidence)
CDON
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HOLOPROSENCEPHALY 11 614226
Tags
Green Green List (high evidence)
CDT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 4 613804
Tags
Green Green List (high evidence)
CELF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CELF2-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
CENPF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Stromme syndrome
Tags
Green Green List (high evidence)
CENPJ
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SECKEL SYNDROME TYPE 4 613676
  • MICROCEPHALY PRIMARY TYPE 6 608393
Tags
Green Green List (high evidence)
CEP104
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Joubert syndrome 25, 616781
Tags
Green Green List (high evidence)
CEP135
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673
Tags
Green Green List (high evidence)
CEP152
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 4 604321
  • SECKEL SYNDROME TYPE 5 613823
Tags
Green Green List (high evidence)
CEP290
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 14 209900
  • LEBER CONGENITAL AMAUROSIS TYPE 10 611755
  • JOUBERT SYNDROME TYPE 5 610188
  • SENIOR-LOKEN SYNDROME TYPE 6 610189
  • MECKEL SYNDROME TYPE 4 611134
Tags
Green Green List (high evidence)
CEP41
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 15 614464
Tags
Green Green List (high evidence)
CEP57
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
Tags
Green Green List (high evidence)
CEP63
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SECKEL SYNDROME 6 614728
Tags
Green Green List (high evidence)
CEP83
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CEP85L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEP85L-associated posterior-predominant lissencephaly, OMIM:618873
Tags
  • gene-checked
Green Green List (high evidence)
CFC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372
Tags
Green Green List (high evidence)
CFL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEMALINE MYOPATHY 7 610687
Tags
Green Green List (high evidence)
CHAMP1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CHD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHD1-related neurodevelopment disorder
Tags
Green Green List (high evidence)
CHD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
CHD3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Macrocephaly and impaired speech and language
Tags
Green Green List (high evidence)
CHD4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Tags
Green Green List (high evidence)
CHD7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHARGE SYNDROME 214800
  • IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110
  • KALLMANN SYNDROME TYPE 5 612370
Tags
Green Green List (high evidence)
CHD8
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTISM 209850
Tags
Green Green List (high evidence)
CHKA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHKA-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
CHM
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHOROIDEREMIA 303100
Tags
Green Green List (high evidence)
CHMP1A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961
Tags
Green Green List (high evidence)
CHRDL1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEGALOCORNEA, X-LINKED 309300
Tags
Green Green List (high evidence)
CHRNA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290
Tags
Green Green List (high evidence)
CHRNA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHRNA3-related congenital anomalies of the kidney and urinary tract
Tags
Green Green List (high evidence)
CHRNA4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513
Tags
Green Green List (high evidence)
CHRNB1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314
  • CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313
Tags
Green Green List (high evidence)
CHRNB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375
  • NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426
Tags
Green Green List (high evidence)
CHRNG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
Tags
Green Green List (high evidence)
CHST14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776
Tags
Green Green List (high evidence)
CHST3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095
Tags
Green Green List (high evidence)
CHSY1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282
Tags
Green Green List (high evidence)
CHUK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COCOON SYNDROME 613630
Tags
Green Green List (high evidence)
CIB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NONSYNDROMIC DEAFNESS DFNB48 609439
  • USHER SYNDROME TYPE 1J 614869
Tags
Green Green List (high evidence)
CIC
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CAPICUA, DROSOPHILA, HOMOLOG OF 612082
Tags
Green Green List (high evidence)
CISD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WOLFRAM SYNDROME TYPE 2 604928
Tags
Green Green List (high evidence)
CIT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY MICROCEPHALY 615414
Tags
Green Green List (high evidence)
CKAP2L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440
Tags
Green Green List (high evidence)
CLCN3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
  • CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
Tags
Green Green List (high evidence)
CLCN4
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CLCN6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CLCN6-related Developmental Disorder
Tags
  • de novo
Green Green List (high evidence)
CLCN7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CLCN7-RELATED OSTEOPETROSIS 611490
Tags
Green Green List (high evidence)
CLCNKB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARTTER SYNDROME TYPE 4B 613090
Tags
Green Green List (high evidence)
CLDN19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
Tags
Green Green List (high evidence)
CLMP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL SHORT BOWEL SYNDROME 615237
Tags
Green Green List (high evidence)
CLN3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200
Tags
Green Green List (high evidence)
CLN5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
  • neuronal ceroid lipofuscinosis 5 MONDO:0009745
Tags
Green Green List (high evidence)
CLN6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780
  • CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300
Tags
Green Green List (high evidence)
CLN8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143
Tags
Green Green List (high evidence)
CLP1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 10 OMIM:615803
  • Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
  • founder-effect
Green Green List (high evidence)
CLPB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
Tags
Green Green List (high evidence)
CLPP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PERRAULT SYNDROME
Tags
Green Green List (high evidence)
CLTC
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Overgrowth intellectual disability
  • Epilepsy and intellectual disability
Tags
Green Green List (high evidence)
CNKSR2
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY WITH EPILEPSY
Tags
Green Green List (high evidence)
CNNM2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CNNM2-related neurodevelopmental disorder with hypomagnesemia
  • autosomal recessive form
Tags
Green Green List (high evidence)
CNOT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • pancreatic agenesis and holoprosencephaly syndrome
  • HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500
Tags
Green Green List (high evidence)
CNOT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CNOT3 syndrome
Tags
Green Green List (high evidence)
CNPY3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EARLY ONSET EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
CNTNAP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286
Tags
Green Green List (high evidence)
CNTNAP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042
Tags
Green Green List (high evidence)
COASY
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Tags
Green Green List (high evidence)
COG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG1-CDG 300197
Tags
Green Green List (high evidence)
COG4
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG4-CDG 319493
  • Saul-Wilson syndrome 618150
Tags
Green Green List (high evidence)
COG5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG5-CDG 319494
Tags
Green Green List (high evidence)
COG7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG7-CDG 300171
Tags
Green Green List (high evidence)
COG8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG8-CDG 300204
Tags
Green Green List (high evidence)
COL10A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500
Tags
Green Green List (high evidence)
COL11A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • STICKLER SYNDROME, TYPE II 604841
  • FIBROCHONDROGENESIS 228520
Tags
Green Green List (high evidence)
COL11A2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WEISSENBACHER-ZWEYMUELLER SYNDROME 184840
  • AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868
  • STICKLER SYNDROME TYPE 3 184840
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706
Tags
Green Green List (high evidence)
COL13A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital Myasthenic Syndrome Type 19
Tags
Green Green List (high evidence)
COL18A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Knobloch syndrome, type 1, OMIM:267750
Tags
Green Green List (high evidence)
COL1A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CAFFEY DISEASE 114000
  • OSTEOGENESIS IMPERFECTA TYPE IIA 166210
  • OSTEOGENESIS IMPERFECTA TYPE III 259420
  • COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210
  • EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060
  • OSTEOGENESIS IMPERFECTA TYPE I 166200
  • EHLERS-DANLOS SYNDROME TYPE VIIA 319158
Tags
Green Green List (high evidence)
COL25A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219
Tags
Green Green List (high evidence)
COL27A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Steel Syndrome
Tags
Green Green List (high evidence)
COL2A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACHONDROGENESIS TYPE 2 200610
  • PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210
  • SPONDYLOPERIPHERAL DYSPLASIA 271700
  • PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250
  • SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900
  • RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508
  • KNIEST DYSPLASIA 156550
  • STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508
Tags
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PORENCEPHALY 1 175780
Tags
Green Green List (high evidence)
COL4A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PORENCEPHALY 2 614483
Tags
Green Green List (high evidence)
COL4A3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780
  • ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200
Tags
Green Green List (high evidence)
COL4A3BP
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
  • new-gene-name
Green Green List (high evidence)
COL4A4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
Tags
Green Green List (high evidence)
COL6A1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COL6A1 associated myopathy
Tags
Green Green List (high evidence)
COL6A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090
  • COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090
Tags
Green Green List (high evidence)
COL6A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DYSTONIA 27 616411
  • ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090
Tags
Green Green List (high evidence)
COL9A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • STICKLER SYNDROME TYPE 4 614134
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135
Tags
Green Green List (high evidence)
COL9A2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204
  • STICKLER SYNDROME, TYPE V 614284
Tags
Green Green List (high evidence)
COL9A3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969
  • Stickler syndrome
Tags
Green Green List (high evidence)
COLEC10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3MC
Tags
Green Green List (high evidence)
COLEC11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3MC SYNDROME 2 265050
Tags
Green Green List (high evidence)
COPB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COPB2-associated developmental delay and microcephaly, OMIM:617800
  • COPB2-related developmental delay and osteopenia
Tags
Green Green List (high evidence)
COQ2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY 607426
Tags
Green Green List (high evidence)
COQ4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276
Tags
Green Green List (high evidence)
COQ8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY 607426
Tags
Green Green List (high evidence)
COQ9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY 607426
Tags
Green Green List (high evidence)
COX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEIGH SYNDROME 256000
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
Green Green List (high evidence)
COX15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEIGH SYNDROME 256000
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
Green Green List (high evidence)
COX16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COX16-related Developmental Disorder
Tags
  • gene-checked
Green Green List (high evidence)
COX6B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
Green Green List (high evidence)
COX7B
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887
Tags
Green Green List (high evidence)
CPAMD8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Anterior Segment Dysgenesis
Tags
Green Green List (high evidence)
CPS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300
Tags
Green Green List (high evidence)
CPSF3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CPSF3-associated neurodevelopmental disorder with seizures and microcephaly
Tags
Green Green List (high evidence)
CRB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105
  • LEBER CONGENITAL AMAUROSIS 8 613835
Tags
Green Green List (high evidence)
CRB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
Tags
Green Green List (high evidence)
CREBBP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849
  • CREBBP intellectual disability without typical RTS features
Tags
Green Green List (high evidence)
CRELD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HETEROTAXY SYNDROME 207574
Tags
Green Green List (high evidence)
CRX
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829
Tags
Green Green List (high evidence)
CRYAA
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT, NUCLEAR 123580
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219
Tags
Green Green List (high evidence)
CRYBA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881
Tags
Green Green List (high evidence)
CRYBB1
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT 17, MULTIPLE TYPES, MONOALLELIC
  • CATARACT 17, MULTIPLE TYPES
  • CATARACT 17, MULTIPLE TYPES, BIALLELIC
Tags
Green Green List (high evidence)
CRYBB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547
  • CATARACT, COPPOCK-LIKE 604307
Tags
Green Green List (high evidence)
CRYBB3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741
Tags
Green Green List (high evidence)
CRYGC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT AUTOSOMAL DOMINANT 604219
  • CATARACT COPPOCK-LIKE 604307
Tags
Green Green List (high evidence)
CSF1R
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476
Tags
Green Green List (high evidence)
CSNK2A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CSNK2A1 syndrome
Tags
Green Green List (high evidence)
CSNK2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CSNK2B-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Tags
Green Green List (high evidence)
CSTA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE 607936
Tags
Green Green List (high evidence)
CSTB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • UNVERRICHT-LUNDBORG DISEASE 254800
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
CTBP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CTBP1-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
CTC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199
Tags
Green Green List (high evidence)
CTCF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CTDP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168
Tags
Green Green List (high evidence)
CTNNA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Disordered cortical neuronal migration
Tags
Green Green List (high evidence)
CTNNB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075
Tags
Green Green List (high evidence)
CTNND1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Blepharo-cheiro-dontic syndrome
Tags
Green Green List (high evidence)
CTNND2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CTNND2-related neurodevelopmental disorder
Tags
  • gene-checked
Green Green List (high evidence)
CTNS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750
  • CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900
  • CYSTINOSIS NEPHROPATHIC TYPE 219800
Tags
Green Green List (high evidence)
CTSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GALACTOSIALIDOSIS 256540
Tags
Green Green List (high evidence)
CTSD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127
Tags
Green Green List (high evidence)
CTSK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYCNODYSOSTOSIS 265800
Tags
Green Green List (high evidence)
CTU2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142
Tags
Green Green List (high evidence)
CUL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CUL3-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
CUL4B
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354
Tags
Green Green List (high evidence)
CUL7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-M SYNDROME 1 273750
Tags
Green Green List (high evidence)
CUX2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental epileptic encephalopathy
Tags
Green Green List (high evidence)
CWC27
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa, skeletal anomalies and intellectual disability
Tags
Green Green List (high evidence)
CYB5R3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 319395
Tags
Green Green List (high evidence)
CYC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453
Tags
Green Green List (high evidence)
CYFIP2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468
Tags
Green Green List (high evidence)
CYP1B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
Tags
Green Green List (high evidence)
CYP27A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis
Tags
Green Green List (high evidence)
CYP2U1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEREDITARY SPASTIC PARAPLEGIA 615030
Tags
Green Green List (high evidence)
DAG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818
Tags
Green Green List (high evidence)
DARS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281
Tags
  • new-gene-name
Green Green List (high evidence)
DARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105
Tags
Green Green List (high evidence)
DAW1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DAW1-associated ciliopathy
Tags
  • gene-checked
Green Green List (high evidence)
DBT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAPLE SYRUP URINE DISEASEQ 248600
Tags
Green Green List (high evidence)
DCC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability
Tags
Green Green List (high evidence)
DCDC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RENAL-HEPATIC CILIOPATHY 616217
Tags
Green Green List (high evidence)
DCHS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PERIVENTRICULAR NEURONAL HETEROTOPIA
Tags
Green Green List (high evidence)
DCX
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067
  • LISSENCEPHALY X-LINKED TYPE 1 300067
Tags
Green Green List (high evidence)
DDB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DDB1-associated neurodevelopmental syndrome
Tags
Green Green List (high evidence)
DDB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE 278740
Tags
Green Green List (high evidence)
DDC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643
Tags
Green Green List (high evidence)
DDHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEREDITARY SPASTIC PARAPLEGIA 615030
Tags
Green Green List (high evidence)
DDHD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033
Tags
Green Green List (high evidence)
DDOST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR 614507
Tags
Green Green List (high evidence)
DDR2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665
Tags
Green Green List (high evidence)
DDX11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WARSAW BREAKAGE SYNDROME 613398
Tags
Green Green List (high evidence)
DDX23
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DDX23-related developmental disorder (monoallelic)
Tags
  • gene-checked
Green Green List (high evidence)
DDX3X
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DIABILITY
Tags
Green Green List (high evidence)
DDX59
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OROFACIODIGITAL SYNDROME
Tags
Green Green List (high evidence)
DDX6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
DEAF1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autism, intellectual disability, basal ganglia dysfunction and epilepsy
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828
Tags
Green Green List (high evidence)
DEGS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKODYSTROPHY, HYPOMYELINATING, 18, 618404
Tags
Green Green List (high evidence)
DENND5A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
DEPDC5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364
Tags
Green Green List (high evidence)
DHCR24
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DESMOSTEROLOSIS 238860
Tags
Green Green List (high evidence)
DHCR7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SMITH-LEMLI-OPITZ SYNDROME 270400
Tags
Green Green List (high evidence)
DHDDS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Epilepsy and intellectual disability
Tags
Green Green List (high evidence)
DHFR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839
Tags
Green Green List (high evidence)
DHODH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POSTAXIAL ACROFACIAL DYSOSTOSIS 263750
Tags
Green Green List (high evidence)
DHPS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental Disorder of Hypusination
Tags
Green Green List (high evidence)
DHTKD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750
Tags
Green Green List (high evidence)
DHX30
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental Disorder
Tags
Green Green List (high evidence)
DIS3L2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PERLMAN SYNDROME 267000
Tags
Green Green List (high evidence)
DKC1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DYSKERATOSIS CONGENITA, X-LINKED, 305000
  • DKC1-RELATED DYSKERATOSIS CONGENITA 314912
Tags
Green Green List (high evidence)
DLAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348
Tags
Green Green List (high evidence)
DLD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600
  • LEIGH SYNDROME 256000
Tags
Green Green List (high evidence)
DLG3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 90 300189
Tags
Green Green List (high evidence)
DLG4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DLG4 related intellectual disability
Tags
Green Green List (high evidence)
DLL3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300
Tags
Green Green List (high evidence)
DLL4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADAMS-OLIVER SYNDROME 6 616589
Tags
Green Green List (high evidence)
DMD
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DUCHENNE MUSCULAR DYSTROPHY 310200
  • BECKER MUSCULAR DYSTROPHY 300376
  • CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045
Tags
  • Skewed X-inactivation
Green Green List (high evidence)
DMP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOPHOSPHATEMIC RICKETS, AR 241520
Tags
Green Green List (high evidence)
DMPK_CTG
STR
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Green Green List (high evidence)
DNAAF3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINEASIA 606763
Tags
Green Green List (high evidence)
DNAAF4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSPLASIA
Tags
Green Green List (high evidence)
DNAAF5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 18 614874
Tags
Green Green List (high evidence)
DNAH5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 3
Tags
Green Green List (high evidence)
DNAH9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Motile Cilia Defects and Situs Inversus
Tags
Green Green List (high evidence)
DNAJC12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Tags
Green Green List (high evidence)
DNM1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
DNM1L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DNM1L-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
DNMT3A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879
  • Microcephalic primordial dwarfism
Tags
Green Green List (high evidence)
DNMT3B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860
Tags
Green Green List (high evidence)
DOCK6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADAMS-OLIVER SYNDROME 2 614219
Tags
Green Green List (high evidence)
DOCK7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 615859
Tags
Green Green List (high evidence)
DOCK8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700
Tags
Green Green List (high evidence)
DOHH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DOHH-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
DOLK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Tags
Green Green List (high evidence)
DPAGT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750
  • DPAGT1-CDG 300129
Tags
Green Green List (high evidence)
DPF2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Coffin Siris like disorder
Tags
Green Green List (high evidence)
DPH5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DPH5-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
DPM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Tags
Green Green List (high evidence)
DPM3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 612937
Tags
Green Green List (high evidence)
DPYSL5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DPYSL5-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
DRC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILARY DYSKINEASIA 244400
Tags
Green Green List (high evidence)
DSG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508
Tags
Green Green List (high evidence)
DSP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DSP-related developmental disorder
Tags
Green Green List (high evidence)
DSPP
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II 125490
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594
Tags
Green Green List (high evidence)
DSTYK
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805
  • Autosomal Recessive Complicated Spastic Paraparesis SPG23
Tags
Green Green List (high evidence)
DVL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Tags
Green Green List (high evidence)
DVL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Tags
Green Green List (high evidence)
DYM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DYGGVE-MELCHIOR-CLAUSEN SYNDROME 223800
  • SMITH-MCCORT DYSPLASIA 607326
Tags
Green Green List (high evidence)
DYNC1H1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600
  • SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112
Tags
Green Green List (high evidence)
DYNC1I2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 618492
Tags
Green Green List (high evidence)
DYNC2H1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091
  • SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510
Tags
Green Green List (high evidence)
DYNC2LI1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DYNC2LI1-related short-rib polydactyly, OMIM:617088
Tags
Green Green List (high evidence)
DYRK1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104
Tags
Green Green List (high evidence)
EBF3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
  • hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Tags
Green Green List (high evidence)
EBP
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960
Tags
Green Green List (high evidence)
ECEL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DISTAL ARTHROGRYPOSIS TYPE 5D 615065
Tags
Green Green List (high evidence)
ECHS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
Tags
Green Green List (high evidence)
ECM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100
Tags
Green Green List (high evidence)
EDA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500
  • ECTODERMAL DYSPLASIA TYPE 1 305100
Tags
Green Green List (high evidence)
EDAR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Tags
Green Green List (high evidence)
EDEM3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EDEM3-related congenital disorder of glycosylation, OMIM:619493
Tags
Green Green List (high evidence)
EDN1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AURICULOCONDYLAR SYNDROME 602483
Tags
Green Green List (high evidence)
EDNRA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 616367
Tags
Green Green List (high evidence)
EDNRB
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ABCD SYNDROME, OMIM:600501
Tags
Green Green List (high evidence)
EED
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Weaver-like overgrowth syndrome
Tags
Green Green List (high evidence)
EEF1A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
EFEMP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437
Tags
Green Green List (high evidence)
EFNB1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CRANIOFRONTONASAL SYNDROME, OMIM:304110
Tags
Green Green List (high evidence)
EFTUD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536
Tags
Green Green List (high evidence)
EGR2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253
Tags
Green Green List (high evidence)
EHMT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Kleefstra syndrome
Tags
Green Green List (high evidence)
EIF2AK2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Tags
Green Green List (high evidence)
EIF2AK3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WOLCOTT-RALLISON SYNDROME 226980
Tags
Green Green List (high evidence)
EIF2B4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896
Tags
Green Green List (high evidence)
EIF2B5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896
Tags
Green Green List (high evidence)
EIF2S3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Syndromic ID with severe microcephaly
Tags
Green Green List (high evidence)
EIF3F
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EIF3F related developmental disorder
Tags
Green Green List (high evidence)
EIF4A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RICHIERI-COSTA-PEREIRA SYNDROME
Tags
Green Green List (high evidence)
EIF5A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EIF5A-related craniofacial-neurodevelopmental disorder
Tags
Green Green List (high evidence)
ELAC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010
Tags
Green Green List (high evidence)
ELMO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Intraosseous Vascular Malformation
Tags
Green Green List (high evidence)
ELN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ELN-RELATED CUTIS LAXA 314088
  • SUPRAVALVAR AORTIC STENOSIS 185500
Tags
Green Green List (high evidence)
ELOVL4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457
Tags
Green Green List (high evidence)
EMC1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
  • Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic
  • Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic
Tags
Green Green List (high evidence)
EMC10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EMC10-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
EMG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Bowen-Conradi syndrome
Tags
Green Green List (high evidence)
ENPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312
  • ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000
Tags
Green Green List (high evidence)
EOGT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADAMS OLIVER SYNDROME
Tags
Green Green List (high evidence)
EP300
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RUBINSTEIN-TAYBI SYNDROME TYPE 2 613684
Tags
Green Green List (high evidence)
EPCAM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217
Tags
Green Green List (high evidence)
EPG5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840
Tags
Green Green List (high evidence)
EPRS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Hypomyelinating Leukodystrophy
Tags
  • new-gene-name
Green Green List (high evidence)
ERBB3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Hirschprung disease with intestinal pseudo-obstruction
  • LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598
Tags
Green Green List (high evidence)
ERCC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA 229154
  • CEREBROOCULOFACIOSKELETAL SYNDROME 4 610758
Tags
Green Green List (high evidence)
ERCC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730
  • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756
  • TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
Tags
Green Green List (high evidence)
ERCC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651
  • TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
Tags
Green Green List (high evidence)
ERCC4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMORDIAL DWARFISM 615272
  • XFE PROGEROID SYNDROME 610965
  • XERODERMA PIGMENTOSUM, GROUP F 278760
  • FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272
Tags
Green Green List (high evidence)
ERCC5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780
Tags
Green Green List (high evidence)
ERCC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DE SANCTIS-CACCHIONE SYNDROME 278800
  • UV-SENSITIVE SYNDROME 609413
  • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150
  • COCKAYNE SYNDROME TYPE B 133540
Tags
Green Green List (high evidence)
ERCC6L2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BONE MARROW FAILURE SYNDROME 2 615715
Tags
Green Green List (high evidence)
ERCC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COCKAYNE SYNDROME TYPE A 216400
Tags
Green Green List (high evidence)
ERF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COMPLEX CRANIOSYNOSTOSIS
  • Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia
Tags
Green Green List (high evidence)
ESCO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SC PHOCOMELIA SYNDROME 269000
  • ROBERTS SYNDROME 268300
Tags
Green Green List (high evidence)
ETFA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIA, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
Green Green List (high evidence)
ETFB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIB, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
Green Green List (high evidence)
ETFDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUTARIC ACIDURIA TYPE 2C 231680
Tags
Green Green List (high evidence)
ETHE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ETHYLMALONIC ENCEPHALOPATHY 602473
Tags
Green Green List (high evidence)
EVC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ELLIS-VAN CREVELD SYNDROME 225500
  • ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530
Tags
Green Green List (high evidence)
EVC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530
  • ELLIS-VAN CREVELD SYNDROME 225500
Tags
Green Green List (high evidence)
EXOSC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
Tags
Green Green List (high evidence)
EXOSC9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Cerebellar Atrophy with Spinal Motor Neuronopathy
Tags
Green Green List (high evidence)
EXPH5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INHERITED SKIN FRAGILITY 615028
Tags
Green Green List (high evidence)
EXT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700
  • TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230
Tags
Green Green List (high evidence)
EXT2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EXOSTOSES, MULTIPLE, TYPE 2 133701
Tags
Green Green List (high evidence)
EXTL3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neuro immuno skeletal Dysplasia Syndrome
Tags
Green Green List (high evidence)
EYA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650
Tags
Green Green List (high evidence)
EZH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WEAVER SYNDROME 2 614421
Tags
Green Green List (high evidence)
FAH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TYROSINEMIA TYPE 1 276700
Tags
Green Green List (high evidence)
FAM111A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KENNY-CAFFEY SYNDROME 127000
Tags
Green Green List (high evidence)
FAM126A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532
Tags
  • new-gene-name
Green Green List (high evidence)
FAM149B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Ciliopathy-related syndromic intellectual disability
Tags
  • gene-checked
Green Green List (high evidence)
FAM161A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA 28 606068
Tags
Green Green List (high evidence)
FAM20A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253
Tags
Green Green List (high evidence)
FAM20C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RAINE SYNDROME 259775
Tags
Green Green List (high evidence)
FAM58A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • STAR SYNDROME 300707
Tags
  • new-gene-name
Green Green List (high evidence)
FANCA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650
Tags
Green Green List (high evidence)
FANCB
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCB-RELATED FANCONI ANEMIA 229139
Tags
Green Green List (high evidence)
FANCC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645
Tags
Green Green List (high evidence)
FANCD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646
Tags
Green Green List (high evidence)
FANCE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901
Tags
Green Green List (high evidence)
FANCF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467
Tags
Green Green List (high evidence)
FANCG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082
Tags
Green Green List (high evidence)
FANCI
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCI-RELATED FANCONI ANEMIA 234476
  • FANCONI ANEMIA 229154
Tags
Green Green List (high evidence)
FANCL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCL-RELATED FANCONI ANEMIA 234480
  • FANCONI ANEMIA 229154
Tags
Green Green List (high evidence)
FANCM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCM-RELATED FANCONI ANEMIA 287713
  • FANCONI ANEMIA 229154
Tags
Green Green List (high evidence)
FAR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
Tags
Green Green List (high evidence)
FARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurometabolic disorder due to FARS2 deficiency
Tags
Green Green List (high evidence)
FAT4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PERIVENTRICULAR NEURONAL HETEROTOPIA
  • HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006
  • VAN MALDERGEM SYNDROME 615546
Tags
Green Green List (high evidence)
FBN1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328
  • MARFAN SYNDROME, OMIM:154700
  • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212
  • Marfan Syndrome, biallelic, OMIM:154700
Tags
Green Green List (high evidence)
FBN2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Contractural arachnodactyly, congenital OMIM:121050
  • congenital contractural arachnodactyly MONDO:0007363
Tags
Green Green List (high evidence)
FBP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700
Tags
Green Green List (high evidence)
FBXL4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Tags
Green Green List (high evidence)
FBXO11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Variable Neurodevelopmental Disorder
Tags
Green Green List (high evidence)
FBXO28
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FBX028-related developmental and epileptic encephalopathy with profound intellectual disability
Tags
Green Green List (high evidence)
FBXW11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY 612100
Tags
Green Green List (high evidence)
FBXW7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FBXW7-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
FEZF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA 616030
Tags
Green Green List (high evidence)
FGD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AARSKOG-SCOTT SYNDROME 305400
Tags
Green Green List (high evidence)
FGF10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LADD SYNDROME 149730
Tags
Green Green List (high evidence)
FGF12
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
FGF13
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FGF13-related neurodevelopmental disorder (X-linked dominant)
  • FGF13-related neurodevelopmental disorder (hemizygous)
Tags
Green Green List (high evidence)
FGF14
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FGF14-related episodic ataxia
Tags
Green Green List (high evidence)
FGF3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA 610706
Tags
Green Green List (high evidence)
FGF9
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE SYNOSTOSES SYNDROME TYPE 3 612961
Tags
Green Green List (high evidence)
FGFR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
  • Encephalocraniocutaneous lipomatosis, OMIM:613001
  • PFEIFFER SYNDROME, OMIM:101600
  • OSTEOGLOPHONIC DYSPLASIA, OMIM:166250
  • Hartsfield syndrome, OMIM:615465
Tags
  • mosaicism
Green Green List (high evidence)
FGFR2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790
  • ANTLEY-BIXLER SYNDROME 207410
  • FAMILIAL SCAPHOCEPHALY SYNDROME 609579
  • JACKSON-WEISS SYNDROME 123150
  • APERT SYNDROME 101200
  • CROUZON SYNDROME 123500
  • LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730
  • ACROCEPHALOSYNDACTYLY TYPE V 101600
Tags
Green Green List (high evidence)
FGFR3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • THANATOPHORIC DYSPLASIA TYPE 2 187601
  • THANATOPHORIC DYSPLASIA TYPE 1 187600
  • MUENKE SYNDROME 602849
  • ACHONDROPLASIA 100800
  • CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247
  • CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474
  • LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730
  • HYPOCHONDROPLASIA 146000
Tags
Green Green List (high evidence)
FH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FUMARASE DEFICIENCY 606812
Tags
Green Green List (high evidence)
FHL1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696
Tags
Green Green List (high evidence)
FIG4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228
  • CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340
Tags
Green Green List (high evidence)
FKBP10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRUCK SYNDROME TYPE 1
Tags
Green Green List (high evidence)
FKBP14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Tags
Green Green List (high evidence)
FKRP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 606612
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 613153
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155
Tags
Green Green List (high evidence)
FKTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588
  • CARDIOMYOPATHY DILATED TYPE 1X 611615
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152
Tags
Green Green List (high evidence)
FLAD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Tags
Green Green List (high evidence)
FLNA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049
  • FRONTOMETAPHYSEAL DYSPLASIA 305620
  • FG SYNDROME TYPE 2 300321
  • X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048
  • MELNICK-NEEDLES SYNDROME 309350
  • Childhood Interstitial Lung Disease
  • EPILEPTIC ENCEPHALOPATHY
  • OTOPALATODIGITAL SYNDROME TYPE 1 311300
  • OTOPALATODIGITAL SYNDROME TYPE 2 304120
  • TERMINAL OSSEOUS DYSPLASIA 300244
Tags
  • mosaicism
Green Green List (high evidence)
FLNB
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL DOMINANT LARSEN SYNDROME 150250
  • ATELOSTEOGENESIS TYPE 3 108721
  • ATELOSTEOGENESIS TYPE 1 108720
  • BOOMERANG DYSPLASIA 112310
  • SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460
Tags
Green Green List (high evidence)
FLT4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MILROY DISEASE 153100
Tags
Green Green List (high evidence)
FLVCR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033
Tags
Green Green List (high evidence)
FLVCR2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME 225790
Tags
Green Green List (high evidence)
FMN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
FMR1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623
  • PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360
  • FRAGILE X SYNDROME, OMIM:300624
Tags
Green Green List (high evidence)
FN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Spondylometaphyseal Dysplasia with Corner Fractures 184255
Tags
Green Green List (high evidence)
FOLR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068
Tags
Green Green List (high evidence)
FOXC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • IRIDOGONIODYSGENESIS ANOMALY 601631
  • AXENFELD-RIEGER SYNDROME TYPE 3 602482
  • PETERS ANOMALY 604229
Tags
Green Green List (high evidence)
FOXC2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LYMPHEDEMA-DISTICHIASIS SYNDROME 153400
  • HEREDITARY LYMPHEDEMA II 241432
Tags
Green Green List (high evidence)
FOXE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BAMFORTH-LAZARUS SYNDROME 241850
Tags
Green Green List (high evidence)
FOXE3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL PRIMARY APHAKIA 610256
  • ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250
Tags
Green Green List (high evidence)
FOXF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380
Tags
Green Green List (high evidence)
FOXG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL VARIANT OF RETT SYNDROME 613454
Tags
Green Green List (high evidence)
FOXJ1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
Tags
Green Green List (high evidence)
FOXL2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100
Tags
Green Green List (high evidence)
FOXN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705
Tags
Green Green List (high evidence)
FOXP1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 613670
Tags
Green Green List (high evidence)
FOXP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPEECH-LANGUAGE DISORDER 1 602081
Tags
Green Green List (high evidence)
FOXP3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • IPEX SYNDROME 304790
Tags
Green Green List (high evidence)
FOXRED1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY 252010
Tags
Green Green List (high evidence)
FRA10AC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRA10AC1-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
FRAS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRASER SYNDROME 219000
Tags
Green Green List (high evidence)
FREM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MANITOBA OCULOTRICHOANAL SYNDROME 248450
Tags
Green Green List (high evidence)
FREM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRASER SYNDROME 219000
Tags
Green Green List (high evidence)
FRMD5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRMD5-related developmental disorder
Tags
  • de novo
Green Green List (high evidence)
FRMPD4
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Intellectual Disability
Tags
Green Green List (high evidence)
FRRS1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy with continuous spike-and-wave during sleep
Tags
Green Green List (high evidence)
FTCD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 229100
Tags
Green Green List (high evidence)
FTL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886
Tags
Green Green List (high evidence)
FTSJ1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 44 309549
Tags
Green Green List (high evidence)
FUCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FUCOSIDOSIS 230000
Tags
Green Green List (high evidence)
FUK
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION
Tags
  • new-gene-name
Green Green List (high evidence)
FUT8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital Disorder of Glycosylation with Defective Fucosylation
Tags
Green Green List (high evidence)
FXR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FXR1-related congenital myopathy
Tags
Green Green List (high evidence)
FYCO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019
Tags
Green Green List (high evidence)
FZD5
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autosomal Dominant Coloboma
Tags
  • gene-checked
Green Green List (high evidence)
FZD6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 614157
Tags
Green Green List (high evidence)
FZR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FZR1-related intellectual disability and epilepsy
Tags
Green Green List (high evidence)
GAA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOGEN STORAGE DISEASE TYPE II 232300
Tags
Green Green List (high evidence)
GABBR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GABBR1-associated neurodevelopmental disorder
Tags
Green Green List (high evidence)
GABBR2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GABRA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JUVENILE MYOCLONIC EPILEPSY 611136
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GABRB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Epilepsy and intellectual disability
Tags
Green Green List (high evidence)
GABRB3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHIES
  • CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269
Tags
Green Green List (high evidence)
GABRG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3 611277
  • GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 611277
Tags
Green Green List (high evidence)
GALC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KRABBE DISEASE 245200
Tags
Green Green List (high evidence)
GALE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPIMERASE-DEFICIENCY GALACTOSEMIA 230350
Tags
Green Green List (high evidence)
GALK1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GALACTOSEMIA II 230200
Tags
Green Green List (high evidence)
GALNS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 4A 253000
Tags
Green Green List (high evidence)
GALT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GALACTOSEMIA 230400
Tags
Green Green List (high evidence)
GAMT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736
Tags
Green Green List (high evidence)
GAN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Giant axonal neuropathy 1
Tags
Green Green List (high evidence)
GAS2L2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Impaired Cilia Orientation and Mucociliary Clearance
Tags
Green Green List (high evidence)
GAS8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
GATA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EMBERGER SYNDROME 614038
Tags
Green Green List (high evidence)
GATA3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255
Tags
Green Green List (high evidence)
GATA4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATRIAL SEPTAL DEFECT TYPE 2 607941
Tags
Green Green List (high evidence)
GATA6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001
  • ATRIOVENTRICULAR SEPTAL DEFECT 5 614474
  • ATRIAL SEPTAL DEFECT 9 614475
Tags
Green Green List (high evidence)
GATAD2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NONSPECIFIC SEVERE ID
Tags
Green Green List (high evidence)
GATM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718
Tags
Green Green List (high evidence)
GBA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GAUCHER DISEASE TYPE 3 231000
  • GAUCHER DISEASE PERINATAL LETHAL 608013
  • GAUCHER DISEASE 230800
  • GAUCHER DISEASE TYPE 1 230800
  • GAUCHER DISEASE TYPE 2 230900
  • GAUCHER DISEASE TYPE 3C 231005
Tags
  • new-gene-name
Green Green List (high evidence)
GBA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Tags
Green Green List (high evidence)
GBE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GBE1-associated Glycogen storage disease IV, OMIM:232500
Tags
Green Green List (high evidence)
GCDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUTARICACIDEMIA TYPE 1 231670
Tags
Green Green List (high evidence)
GCH1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DYSTONIA TYPE 5 128230
  • GTP CYCLOHYDROLASE 1 DEFICIENCY 233910
Tags
Green Green List (high evidence)
GCSH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCINE ENCEPHALOPATHY 605899
Tags
Green Green List (high evidence)
GDF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONOTRUNCAL HEART MALFORMATIONS 217095
  • TETRALOGY OF FALLOT 187500
  • TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854
Tags
Green Green List (high evidence)
GDF11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122
Tags
Green Green List (high evidence)
GDF5
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY TYPE C 113100
  • ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700
  • ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250
  • DU PAN SYNDROME 228900
  • SYMPHALANGISM PROXIMAL SYNDROME 185800
  • BRACHYDACTYLY TYPE A1 112500
  • BRACHYDACTYLY TYPE A2 112600
  • MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017
Tags
Green Green List (high evidence)
GDF6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KLIPPEL-FEIL SYNDROME TYPE 1 118100
  • MICROPHTHALMIA ISOLATED TYPE 4 613094
Tags
Green Green List (high evidence)
GEMIN4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913
Tags
Green Green List (high evidence)
GEMIN5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333
Tags
Green Green List (high evidence)
GFAP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALEXANDER DISEASE 203450
Tags
Green Green List (high evidence)
GFM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 609060
Tags
Green Green List (high evidence)
GHR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PITUITARY DWARFISM II 262500
Tags
Green Green List (high evidence)
GIGYF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GIGYF1-related developmental disorder (monoallelic)
Tags
  • gene-checked
Green Green List (high evidence)
GJA1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HALLERMANN-STREIFF SYNDROME, OMIM:234100
  • SYNDACTYLY TYPE 3, OMIM:186100
  • AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200
  • HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550
  • AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850
Tags
Green Green List (high evidence)
GJA3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885
Tags
Green Green List (high evidence)
GJA8
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT ZONULAR PULVERULENT TYPE 1 116200
  • CATARACT-MICROCORNEA SYNDROME 116150
Tags
Green Green List (high evidence)
GJB3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200
  • DEAFNESS, AUTOSOMAL RECESSIVE
Tags
Green Green List (high evidence)
GJC2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPASTIC PARAPLEGIA, 44 613206
  • LEUKODYSTROPHY, HYPOMYELINATING, 2 608804
  • LYMPHEDEMA, HEREDITARY, IC 613480
Tags
Green Green List (high evidence)
GK
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCEROL KINASE DEFICIENCY 307030
Tags
Green Green List (high evidence)
GLB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GM1-GANGLIOSIDOSIS TYPE 1 230500
  • MUCOPOLYSACCHARIDOSIS TYPE 4B 253010
  • GM1-GANGLIOSIDOSIS TYPE 2 230600
  • GM1-GANGLIOSIDOSIS TYPE 3 230650
Tags
Green Green List (high evidence)
GLDC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLDC-RELATED GLYCINE ENCEPHALOPATHY 605899
Tags
Green Green List (high evidence)
GLDN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Lethal arthroogryposis
Tags
Green Green List (high evidence)
GLE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890
Tags
Green Green List (high evidence)
GLI2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLI2-RELATED HOLOPROSENCEPHALY 261768
Tags
Green Green List (high evidence)
GLI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PREAXIAL POLYDACTYLY TYPE IV 269157
  • GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700
  • POSTAXIAL POLYDACTYLY TYPE A 174200
  • PALLISTER-HALL SYNDROME 146510
Tags
Green Green List (high evidence)
GLIS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEPHRONOPHTHISIS 7 611498
Tags
Green Green List (high evidence)
GLIS3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199
Tags
Green Green List (high evidence)
GLMN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLOMUVENOUS MALFORMATIONS 138000
Tags
Green Green List (high evidence)
GLRA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLRA1-related hyperexplexia, biallelic, OMIM:149400
  • GLRA1-related hyperexplexia, monoallelic, OMIM:149400
Tags
Green Green List (high evidence)
GLRB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLRB-related hyperexplexia, biallelic, OMIM:614619
  • GLRB-related hyperexplexia, monoallelic
Tags
Green Green List (high evidence)
GLUD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762
Tags
Green Green List (high evidence)
GLUL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015
Tags
Green Green List (high evidence)
GM2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GM2-GANGLIOSIDOSIS TYPE AB 272750
Tags
Green Green List (high evidence)
GMNN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Tags
Green Green List (high evidence)
GMPPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION
Tags
Green Green List (high evidence)
GMPPB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350
Tags
Green Green List (high evidence)
GNA11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital Hemangioma
Tags
  • mosaicism
Green Green List (high evidence)
GNA14
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital vascular tumours
Tags
  • gene-checked
  • mosaicism
Green Green List (high evidence)
GNAI1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854
Tags
Green Green List (high evidence)
GNAI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AURICULOCONDYLAR SYNDROME 602483
Tags
Green Green List (high evidence)
GNAO1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GNAQ
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital Hemangioma
Tags
  • mosaicism
Green Green List (high evidence)
GNAS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580
  • MCCUNE-ALBRIGHT SYNDROME, OMIM:174800
  • PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
Tags
  • mosaicism
Green Green List (high evidence)
GNB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 42 OMIM:616973
  • intellectual disability, autosomal dominant 42 MONDO:0014855
Tags
Green Green List (high evidence)
GNB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GNB2-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
GNB5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Sinus Bradycardia and Cognitive Disability
Tags
Green Green List (high evidence)
GNPAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765
Tags
Green Green List (high evidence)
GNPTAB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOLIPIDOSIS TYPE II 252500
  • MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600
Tags
Green Green List (high evidence)
GNPTG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605
Tags
Green Green List (high evidence)
GNS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3D 252940
Tags
Green Green List (high evidence)
GOLGA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GOLGA2-related myopathy, seizures and microcephaly
Tags
Green Green List (high evidence)
GORAB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Geroderma osteodysplasticum
Tags
Green Green List (high evidence)
GOT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Malate-Aspartate Shuttle-Related Encephalopathy
Tags
Green Green List (high evidence)
GPAA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Tags
Green Green List (high evidence)
GPC3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870
Tags
Green Green List (high evidence)
GPC4
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KEIPERT SYNDROME 301026
Tags
Green Green List (high evidence)
GPC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OMODYSPLASIA TYPE 1 (OMOD1) [ 258315
Tags
Green Green List (high evidence)
GPSM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHUDLEY-MCCULLOUGH SYNDROME
Tags
Green Green List (high evidence)
GPX4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 250220
Tags
Green Green List (high evidence)
GREB1L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia/aplasia 3, OMIM:617805
Tags
  • gene-checked
Green Green List (high evidence)
GRHL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029
Tags
Green Green List (high evidence)
GRHL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VAN DER WOUDE SYNDROME 119300
Tags
Green Green List (high evidence)
GRIA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GRIA1-related neurodevelopmental disorder
Tags
  • de novo
Green Green List (high evidence)
GRIA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GRIA2-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
GRIA3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 94 300699
Tags
Green Green List (high evidence)
GRID2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GRID2-related cerebellar ataxia, biallelic
  • GRID2-related cerebellar ataxia, monoallelic
Tags
Green Green List (high evidence)
GRIK2
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092
Tags
Green Green List (high evidence)
GRIN1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
  • intellectual disability, autosomal dominant 8 MONDO:0013655
Tags
Green Green List (high evidence)
GRIN2A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LANDAU-KLEFFNER SYNDROME 245570
  • EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971
Tags
Green Green List (high evidence)
GRIN2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • AUTISM 209850
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970
Tags
Green Green List (high evidence)
GRIN2D
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Tags
Green Green List (high evidence)
GRM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL CEREBELLAR ATAXIA 614831
Tags
Green Green List (high evidence)
GRM6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270
Tags
Green Green List (high evidence)
GRM7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GRM7-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
GSPT2
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • XL INTELLECTUAL DISABILITY
Tags
  • gene-checked
Green Green List (high evidence)
GTF2E2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DNA Repair-Proficient Trichothiodystrophy
Tags
Green Green List (high evidence)
GTF2H5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
Tags
Green Green List (high evidence)
GTPBP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JABERI-ELAHI SYNDROME, OMIM:617988
Tags
Green Green List (high evidence)
GTPBP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GUCY2C
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MECONIUM ILEUS
  • FAMILIAL DIARRHEA DIARRHEA 6 614616
Tags
Green Green List (high evidence)
GUSB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 7 253220
Tags
Green Green List (high evidence)
GZF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LARSEN SYNDROME
Tags
Green Green List (high evidence)
H3F3A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Craniofacial with neurodevelopment disorders
Tags
  • new-gene-name
Green Green List (high evidence)
H3F3B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • H3F3B associated neurodevelopmental disorder
Tags
  • new-gene-name
Green Green List (high evidence)
HAAO
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NAD deficiency disorder
Tags
Green Green List (high evidence)
HACD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HACD1-related congenital myopathy
Tags
Green Green List (high evidence)
HACE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HACE1 related disorder
Tags
Green Green List (high evidence)
HADH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530
Tags
Green Green List (high evidence)
HADHA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY 609016
Tags
Green Green List (high evidence)
HAX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738
Tags
Green Green List (high evidence)
HCCS
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA SYNDROMIC TYPE 7 309801
Tags
Green Green List (high evidence)
HCFC1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, X-LINKED 3 309541
  • COBALAMIN DISORDER
Tags
Green Green List (high evidence)
HCN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871
Tags
Green Green List (high evidence)
HDAC4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430
Tags
Green Green List (high evidence)
HDAC8
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR
  • Cornelia de Lange Syndrome HDAC8 X-linked dominant
Tags
Green Green List (high evidence)
HECW2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language
Tags
Green Green List (high evidence)
HERC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011
Tags
Green Green List (high evidence)
HERC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HERC2-related neurodevelopmental disorder, OMIM:615516
Tags
Green Green List (high evidence)
HESX1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEPTOOPTIC DYSPLASIA 256657
  • HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358
Tags
Green Green List (high evidence)
HEXA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GM2-GANGLIOSIDOSIS TYPE 1 272800
Tags
Green Green List (high evidence)
HEXB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GM2-GANGLIOSIDOSIS TYPE 2 268800
Tags
Green Green List (high evidence)
HGSNAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3C 252930
Tags
Green Green List (high evidence)
HIBCH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HIBCH DEFICIENCY 250620
Tags
Green Green List (high evidence)
HINT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE 137200
Tags
Green Green List (high evidence)
HIST1H1E
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Childhood overgrowth
Tags
  • new-gene-name
Green Green List (high evidence)
HIST1H4C
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HIST1H4C
Tags
  • new-gene-name
Green Green List (high evidence)
HIST1H4J
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Intellectual disability with facial dysmorphism
Tags
  • new-gene-name
Green Green List (high evidence)
HIVEP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HIVEP2 associated syndromic developmental delay with intellectual disability
Tags
Green Green List (high evidence)
HK1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HK1-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
HLCS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018
Tags
Green Green List (high evidence)
HMGB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome
  • HMGB1-related intellectual disability
Tags
  • gene-checked
Green Green List (high evidence)
HMGCL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450
Tags
Green Green List (high evidence)
HMGCS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911
Tags
Green Green List (high evidence)
HMX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OCULOAURICULAR SYNDROME 612109
Tags
Green Green List (high evidence)
HNF1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RENAL CYSTS AND DIABETES SYNDROME 137920
Tags
Green Green List (high evidence)
HNF4A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850
  • ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353
Tags
Green Green List (high evidence)
HNRNPA2B1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Early-onset oculopharyngeal muscular dystrophy
Tags
Green Green List (high evidence)
HNRNPD
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HNRNPD-related developmental disorder (monoallelic)
Tags
  • gene-checked
Green Green List (high evidence)
HNRNPH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HNRNPH1-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
HNRNPH2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental Disorder in Females
Tags
Green Green List (high evidence)
HNRNPK
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Au-Kline Syndrome
Tags
Green Green List (high evidence)
HNRNPR
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073
Tags
Green Green List (high evidence)
HNRNPU
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
HOXA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BOSLEY-SALIH-ALORAINY SYNDROME 601536
  • ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME 601536
Tags
Green Green List (high evidence)
HOXA13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HAND-FOOT-GENITAL SYNDROME 140000
Tags
Green Green List (high evidence)
HOXB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744
Tags
Green Green List (high evidence)
HOXC13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PURE HAIR AND NAIL ECTODERMAL DYSPLASIA 614931
Tags
Green Green List (high evidence)
HOXD13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713
  • VACTERL ASSOCIATION 192350
  • BRACHYDACTYLY TYPE E 113300
  • SYNPOLYDACTYLY 1 186000
  • SYNDACTYLY TYPE 5 186300
  • BRACHYDACTYLY TYPE D 113200
Tags
Green Green List (high evidence)
HPD
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TYROSINEMIA TYPE 3 276710
  • HAWKINSINURIA 140350
Tags
Green Green List (high evidence)
HPDL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HPDL Neurodegenerative Disease
Tags
  • gene-checked
Green Green List (high evidence)
HPGD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CRANIOOSTEOARTHROPATHY 259100
Tags
Green Green List (high evidence)
HPRT1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LESCH-NYHAN SYNDROME 300322
  • GOUT HPRT-RELATED 300323
Tags
Green Green List (high evidence)
HPS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HERMANSKY-PUDLAK SYNDROME 203300
Tags
Green Green List (high evidence)
HPSE2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • UROFACIAL SYNDROME 236730
Tags
Green Green List (high evidence)
HR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALOPECIA UNIVERSALIS 146550
  • ATRICHIA WITH PAPULAR LESIONS 209500
Tags
Green Green List (high evidence)
HRAS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 218040
  • COSTELLO SYNDROME 218040
Tags
Green Green List (high evidence)
HS2ST1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HS2ST1-related Developmental Disorder
Tags
Green Green List (high evidence)
HSD17B10
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220
  • 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY 300438
Tags
Green Green List (high evidence)
HSD17B4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • D-BIFUNCTIONAL PROTEIN DEFICIENCY 261515
  • PERRAULT SYNDROME
Tags
Green Green List (high evidence)
HSD3B7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765
Tags
Green Green List (high evidence)
HSF4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT ZONULAR HSF4-RELATED 116800
  • CATARACT MARNER TYPE 116800
Tags
Green Green List (high evidence)
HSPD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233
Tags
Green Green List (high evidence)
HSPG2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCHWARTZ-JAMPEL SYNDROME 255800
  • DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410
Tags
Green Green List (high evidence)
HUWE1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706
Tags
Green Green List (high evidence)
HYAL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 9 601492
Tags
Green Green List (high evidence)
HYAL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies
Tags
  • gene-checked
Green Green List (high evidence)
HYDIN
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 5 608647
Tags
Green Green List (high evidence)
HYLS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYDROLETHALUS SYNDROME TYPE 1 236680
Tags
Green Green List (high evidence)
IARS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Tags
  • new-gene-name
Green Green List (high evidence)
IDS
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 2 309900
Tags
Green Green List (high evidence)
IDUA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015
  • MUCOPOLYSACCHARIDOSIS TYPE 1S 607016
  • MUCOPOLYSACCHARIDOSIS TYPE 1H 607014
Tags
Green Green List (high evidence)
IFIH1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 7, OMIM:615846
  • SINGLETON-MERTEN SYNDROME, OMIM:182250
Tags
Green Green List (high evidence)
IFITM5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OSTEOGENESIS IMPERFECTA TYPE V 610967
Tags
Green Green List (high evidence)
IFT122
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CRANIOECTODERMAL DYSPLASIA 218330
Tags
Green Green List (high evidence)
IFT140
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAINZER-SALDINO SYNDROME 266920
Tags
Green Green List (high evidence)
IFT172
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JEUNE SYNDROME
  • MAINZER-SALDINO SYNDROME 266920
Tags
Green Green List (high evidence)
IFT43
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CRANIOECTODERMAL DYSPLASIA TYPE 3 614099
Tags
Green Green List (high evidence)
IFT74
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • IFT74-associated ciliopathy, OMIM:617119
Tags
Green Green List (high evidence)
IFT80
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ASPHYXIATING THORACIC DYSTROPHY 2 611263
Tags
Green Green List (high evidence)
IGF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INSULIN-LIKE GROWTH FACTOR I DEFICIENCY 608747
Tags
Green Green List (high evidence)
IGF1R
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450
Tags
Green Green List (high evidence)
IGF2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BECKWITH-WIEDEMANN SYNDROME 130650
  • CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860
Tags
Green Green List (high evidence)
IGFBP7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 614224
Tags
Green Green List (high evidence)
IGHMBP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320
Tags
Green Green List (high evidence)
IGSF1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888
Tags
Green Green List (high evidence)
IHH
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACROCAPITOFEMORAL DYSPLASIA 607778
  • BRACHYDACTYLY, TYPE A1 112500
Tags
Green Green List (high evidence)
IKBKG
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636
  • IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584
  • ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301
  • ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291
  • INCONTINENTIA PIGMENTI 308300
Tags
Green Green List (high evidence)
IL11RA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autosomal Recessive Craniosynostosis
Tags
Green Green List (high evidence)
IL1RAPL1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 21 300143
Tags
Green Green List (high evidence)
IMPAD1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078
Tags
  • new-gene-name
Green Green List (high evidence)
INPP5E
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME TYPE 1 213300
  • MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156
Tags
Green Green List (high evidence)
INPP5K
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, congenital, with cataracts and intellectual disability
Tags
Green Green List (high evidence)
INPPL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OPSISMODYSPLASIA 258480
Tags
Green Green List (high evidence)
IPO8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • IPO8-related syndromic thoracic aortic aneurysm
Tags
Green Green List (high evidence)
IQSEC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Intellectual Disability, Developmental Delay, and Short Stature
Tags
Green Green List (high evidence)
IQSEC2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 1 309530
Tags
Green Green List (high evidence)
IREB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • IREB2-related neurodevelopmental disorder
Tags
Green Green List (high evidence)
IRF2BPL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurological Phenotypes
Tags
Green Green List (high evidence)
IRF6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VAN DER WOUDE SYNDROME 119300
  • POPLITEAL PTERYGIUM SYNDROME 119500
Tags
Green Green List (high evidence)
IRX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174
Tags
Green Green List (high evidence)
ISPD
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WALKER WARBURG SYNDROME 614643
Tags
  • new-gene-name
Green Green List (high evidence)
ITCH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 613385
Tags
Green Green List (high evidence)
ITGA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748
Tags
Green Green List (high evidence)
ITGA7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL MUSCULAR DYSTROPHY 607855
Tags
Green Green List (high evidence)
ITGA8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RENAL HYPODYSPLASIA/APLASIA 1 191830
Tags
Green Green List (high evidence)
ITPR1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Gillespie Syndrome, OMIM:206700
  • Gillespie Syndrome, monoallelic, OMIM:206700
  • SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360
Tags
Green Green List (high evidence)
IVD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ISOVALERIC ACIDEMIA 243500
Tags
Green Green List (high evidence)
JAG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALAGILLE SYNDROME 279357
Tags
Green Green List (high evidence)
JAG2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JAG2-related muscular dystrophy
Tags
Green Green List (high evidence)
JAGN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE CONGENITAL NEUTROPENIA
Tags
Green Green List (high evidence)
JAK3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802
Tags
Green Green List (high evidence)
JAM3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730
Tags
Green Green List (high evidence)
JARID2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JARID2-related Neurodevelopmental Disorder
Tags
Green Green List (high evidence)
KANSL1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443
Tags
Green Green List (high evidence)
KARS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916
  • KARS1-related leukoencephalopathy with or without deafness, OMIM:619147
Tags
  • new-gene-name
Green Green List (high evidence)
KAT5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KAT5-related Neurodevelopmental Syndrome
Tags
Green Green List (high evidence)
KAT6A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268
Tags
Green Green List (high evidence)
KAT6B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
  • GENITOPATELLAR SYNDROME 606170
Tags
Green Green List (high evidence)
KATNB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS
Tags
Green Green List (high evidence)
KBTBD13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEMALINE MYOPATHY 6 609273
Tags
Green Green List (high evidence)
KCNA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY Loss-of-function
  • EPILEPTIC ENCEPHALOPATHY Gain-of-function
Tags
Green Green List (high evidence)
KCNB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056
Tags
Green Green List (high evidence)
KCNC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187
Tags
Green Green List (high evidence)
KCNC3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPINOCEREBELLAR ATAXIA TYPE 13 605259
Tags
Green Green List (high evidence)
KCND3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KCND3-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
KCNE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
  • Long QT syndrome 5, OMIM:613695
Tags
Green Green List (high evidence)
KCNH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TEMPLE BARRAISTER SYNDROME 611816
Tags
Green Green List (high evidence)
KCNH5
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 112, OMIM:620537
Tags
Green Green List (high evidence)
KCNJ10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780
Tags
Green Green List (high evidence)
KCNJ11
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090
  • FAMILIAL HYPERINSULINISM 3272
Tags
Green Green List (high evidence)
KCNJ6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KEPPEN-LUBINSKY SYNDROME 614098
Tags
Green Green List (high evidence)
KCNJ8
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Cantu syndrome
Tags
  • gene-checked
Green Green List (high evidence)
KCNK3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KCNK3-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
KCNK4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth)
  • Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth
Tags
Green Green List (high evidence)
KCNMA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446
Tags
Green Green List (high evidence)
KCNN3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZIMMERMANN-LABAND SYNDROME
Tags
Green Green List (high evidence)
KCNQ1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400
Tags
Green Green List (high evidence)
KCNQ2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720
  • BENIGN NEONATAL EPILEPSY TYPE 1 121200
Tags
Green Green List (high evidence)
KCNQ3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KCNQ3 syndrome
Tags
Green Green List (high evidence)
KCNQ5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Intellectual Disability with or without Epileptic Encephalopathy
Tags
Green Green List (high evidence)
KCNT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959
  • MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
Tags
Green Green List (high evidence)
KCTD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCALP-EAR-NIPPLE SYNDROME
Tags
Green Green List (high evidence)
KCTD7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS
  • PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726
Tags
Green Green List (high evidence)
KDELR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KDELR2-related Osteogenesis Imperfecta
Tags
Green Green List (high evidence)
KDM1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental delay and distinctive facial features
Tags
Green Green List (high evidence)
KDM2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KDM2B-related neurodevelopmental disorder
Tags
  • gene-checked
Green Green List (high evidence)
KDM3B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Diets-Jongmans syndrome, OMIM:618846
  • Diets-Jongmans syndrome, MONDO:0030012
Tags
Green Green List (high evidence)
KDM4B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KDM4B-related Developmental Disorder
Tags
Green Green List (high evidence)
KDM5B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autism
Tags
Green Green List (high evidence)
KDM5C
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534
Tags
Green Green List (high evidence)
KDM6A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KABUKI SYNDROME 2 300867
Tags
Green Green List (high evidence)
KDM6B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • KDM6B-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
KIAA0586
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 614615
Tags
Green Green List (high evidence)
KIAA1109
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Brain atrophy, Dandy Walker and Contractures
Tags
  • new-gene-name
Green Green List (high evidence)
KIDINS220
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity.
Tags
Green Green List (high evidence)
KIF11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950
Tags
Green Green List (high evidence)
KIF14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Severe microcephaly and short stature
Tags
Green Green List (high evidence)
KIF1A
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213
  • NESCAV SYNDROME, 614255
Tags
Green Green List (high evidence)
KIF1BP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460
Tags
  • new-gene-name
Green Green List (high evidence)
KIF22
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546
Tags
Green Green List (high evidence)
KIF2A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY.
Tags
Green Green List (high evidence)
KIF5A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KIF5A-associated severe neonatal myoclonus, OMIM:617235
Tags
Green Green List (high evidence)
KIF5B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KIF5B-related disease
Tags
  • gene-checked
Green Green List (high evidence)
KIF5C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282
Tags
Green Green List (high evidence)
KIF7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACROCALLOSAL SYNDROME 200990
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Green Green List (high evidence)
KIT
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HUMAN PIEBALDISM 172800
Tags
Green Green List (high evidence)
KLF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673
Tags
Green Green List (high evidence)
KLF7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KLF7-related developmental disorder
Tags
  • gene-checked
Green Green List (high evidence)
KLHL40
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348
Tags
Green Green List (high evidence)
KLHL7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
  • Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
Tags
Green Green List (high evidence)
KMT2A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WIEDEMANN-STEINER SYNDROME 605130
Tags
Green Green List (high evidence)
KMT2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Complex early-onset dystonia
Tags
Green Green List (high evidence)
KMT2C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
KMT2D
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown