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

The content of this panel is overseen by NHS Genomic Medicine Service governance.

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

This panel contains DD gene-disease pairs and attributes downloaded from Gene2Phenotype up to and including November 5th 2019. More information about Gene2Phenotype (G2P) can be found at https://www.ebi.ac.uk/gene2phenotype, and in the following publication:
Wright et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. PMID:25529582

The DDG2P confidence levels were automatically adapted to PanelApp ratings and Expert Review Sources 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

Additional Notes and Considerations for gene ratings:
- Where one gene was associated with multiple DD-G2P disorders with different confidence levels, the highest DDG2P Disease confidence was selected, except when one of the DDG2P ratings was 'child IF', where an Amber rating was selected.
- Where one gene was associated with multiple DD-G2P disorders with different confidence levels, the Mode of inheritance reflects the disorder with the highest rating.
- DDG2P confidence levels are recorded as Comments within each gene.

5 reviewers

  • Lu Raymond (university of cambridge )

    Group: GeCIP domain
    Workplace: Research lab

  • 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

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

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

1914 Entities

1914 reviewed, 1193 green

List Entity Reviews Mode of inheritance Details
1914 Entitiess
Green Green List (high evidence)
AAAS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
Tags
Green Green List (high evidence)
ABCB11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847
Tags
Green Green List (high evidence)
ABCB7
1 review
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
1 review
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
1 review
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
1 review
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)
ABHD5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHANARIN-DORFMAN SYNDROME 275630
Tags
Green Green List (high evidence)
ACAD9
1 review
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
1 review
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
1 review
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
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALPHA-METHYLACETOACETIC ACIDURIA 203750
Tags
Green Green List (high evidence)
ACOX1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
Tags
Green Green List (high evidence)
ACP5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
Tags
Green Green List (high evidence)
ACTA2
1 review
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARAITSER-WINTER SYNDROME
  • ACTB Haploinsufficiency syndtome
Tags
  • watchlist
Green Green List (high evidence)
ACTG1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARAITSER-WINTER SYNDROME
Tags
Green Green List (high evidence)
ACTL6B
1 review
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
  • watchlist
Green Green List (high evidence)
ACY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMINOACYLASE-1 DEFICIENCY 609924
Tags
Green Green List (high evidence)
ADA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADENOSINE DEAMINASE DEFICIENCY 102700
Tags
Green Green List (high evidence)
ADAR
1 review
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)
ADGRG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POLYMICROGYRIA 606854
Tags
Green Green List (high evidence)
ADGRG6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503
Tags
Green Green List (high evidence)
ADNP
1 review
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)
ADSL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADENYLOSUCCINASE DEFICIENCY 103050
Tags
Green Green List (high evidence)
AFF2
1 review
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)
AFF4
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ASPARTYLGLUCOSAMINURIA 208400
Tags
Green Green List (high evidence)
AGK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SENGERS SYNDROME 212350
Tags
Green Green List (high evidence)
AGL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOGEN STORAGE DISEASE TYPE III 232400
Tags
Green Green List (high evidence)
AGPS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121
Tags
Green Green List (high evidence)
AGXT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPEROXALURIA, PRIMARY, TYPE 1 259900
Tags
Green Green List (high evidence)
AHDC1
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 614615
Tags
Green Green List (high evidence)
AIPL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEBER CONGENITAL AMAUROSIS 4 604393
Tags
Green Green List (high evidence)
AIRE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
Tags
Green Green List (high evidence)
AK2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETICULAR DYSGENESIS 267500
Tags
Green Green List (high evidence)
AKR1D1
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROTEUS SYNDROME 176920
Tags
  • mosaicism
Green Green List (high evidence)
ALAD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACUTE HEPATIC PORPHYRIA 612740
Tags
Green Green List (high evidence)
ALDH18A1
1 review
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)
ALDH1A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANOPHTHALMIA/MICROPHTHALMIA
Tags
Green Green List (high evidence)
ALDH3A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SJOEGREN-LARSSON SYNDROME 270200
Tags
Green Green List (high evidence)
ALDH4A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERPROLINEMIA TYPE 2 239510
Tags
Green Green List (high evidence)
ALDH5A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
Tags
Green Green List (high evidence)
ALDH7A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYRIDOXINE-DEPENDENT EPILEPSY 266100
Tags
Green Green List (high evidence)
ALDOA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOGEN STORAGE DISEASE XII 611881
Tags
Green Green List (high evidence)
ALDOB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEREDITARY FRUCTOSE INTOLERANCE 229600
Tags
Green Green List (high evidence)
ALG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG1-CDG 300141
Tags
Green Green List (high evidence)
ALG12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143
Tags
Green Green List (high evidence)
ALG3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG3-CDG 237128
Tags
Green Green List (high evidence)
ALG6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG6-CDG 237124
Tags
Green Green List (high evidence)
ALG8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG8-CDG 237145
Tags
Green Green List (high evidence)
ALMS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALSTROM SYNDROME 203800
Tags
Green Green List (high evidence)
ALPL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOPHOSPHATASIA 241500
Tags
Green Green List (high evidence)
ALS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALS2-RELATED DISORDERS 240656
Tags
Green Green List (high evidence)
ALX1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRONTONASAL DYSPLASIA TYPE 3 136760
Tags
Green Green List (high evidence)
ALX3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRONTONASAL DYSPLASIA TYPE 1 136760
Tags
Green Green List (high evidence)
ALX4
1 review
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
1 review
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)
AMPD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA
Tags
Green Green List (high evidence)
AMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCINE ENCEPHALOPATHY 605899
Tags
Green Green List (high evidence)
ANAPC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Rothmund-Thomson Syndrome Type 1
Tags
Green Green List (high evidence)
ANKH
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KBG SYNDROME 148050
Tags
Green Green List (high evidence)
ANO5
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GNATHODIAPHYSEAL DYSPLASIA 166260
  • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307
  • MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319
Tags
  • watchlist
Green Green List (high evidence)
ANTXR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GAPO SYNDROME
Tags
Green Green List (high evidence)
AP1S2
1 review
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)
AP4E1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
Tags
Green Green List (high evidence)
APOPT1
2 reviews
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
Tags
Green Green List (high evidence)
AR
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANDROGEN INSENSITIVITY SYNDROME 300068
  • SPINAL AND BULBAR MUSCULAR ATROPHY 313200
Tags
Green Green List (high evidence)
ARG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARGININEMIA 207800
Tags
Green Green List (high evidence)
ARID1A
1 review
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
1 review
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)
ARL6
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 23 615451
Tags
Green Green List (high evidence)
ARMC9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30
Tags
Green Green List (high evidence)
ARSA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARYLSULFATASE A DEFICIENCY 250100
Tags
Green Green List (high evidence)
ARSB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 6 253200
Tags
Green Green List (high evidence)
ARSE
2 reviews
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
1 review
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
1 review
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)
ASL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARGININOSUCCINATE LYASE DEFICIENCY 207900
Tags
Green Green List (high evidence)
ASPA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CANAVAN DISEASE 271900
Tags
Green Green List (high evidence)
ASPM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Tags
Green Green List (high evidence)
ASS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CITRULLINEMIA TYPE I 615700
Tags
Green Green List (high evidence)
ASXL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BOHRING-OPITZ SYNDROME 605039
Tags
Green Green List (high evidence)
ATAD3A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
  • watchlist
Green Green List (high evidence)
ATIC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICA-RIBOSURIA 608688
Tags
Green Green List (high evidence)
ATM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATAXIA-TELANGIECTASIA 208900
Tags
Green Green List (high evidence)
ATP13A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PARKINSON DISEASE 9 606693
Tags
Green Green List (high evidence)
ATP1A3
1 review
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)
ATP6V1B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
Tags
Green Green List (high evidence)
ATP7A
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600
Tags
Green Green List (high evidence)
ATRX
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950
Tags
Green Green List (high evidence)
AUTS2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY 612100
Tags
Green Green List (high evidence)
B3GALT6
1 review
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)
B4GALT7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070
Tags
Green Green List (high evidence)
BBS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 1 209900
Tags
Green Green List (high evidence)
BBS10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 10 209900
Tags
Green Green List (high evidence)
BBS12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 12 209900
Tags
Green Green List (high evidence)
BBS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 2 209900
Tags
Green Green List (high evidence)
BBS4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 4 209900
Tags
Green Green List (high evidence)
BBS5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 5 209900
Tags
Green Green List (high evidence)
BBS7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 7 209900
Tags
Green Green List (high evidence)
BBS9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 9 209900
Tags
Green Green List (high evidence)
BCAP31
1 review
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)
BCKDHA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAPLE SYRUP URINE DISEASE 248600
Tags
Green Green List (high evidence)
BCKDHB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAPLE SYRUP URINE DISEASE 248600
Tags
Green Green List (high evidence)
BCL11A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
BCOR
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GRACILE SYNDROME 603358
Tags
Green Green List (high evidence)
BFSP2
1 review
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
1 review
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
  • watchlist
Green Green List (high evidence)
BHLHA9
1 review
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
1 review
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)
BIN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CENTRONUCLEAR MYOPATHY 2 255200
Tags
Green Green List (high evidence)
BLM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BLOOM SYNDROME 210900
Tags
Green Green List (high evidence)
BMP4
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DIAPHANOSPONDYLODYSOSTOSIS 608022
Tags
Green Green List (high evidence)
BMPR1B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY TYPE A2 112600
Tags
Green Green List (high evidence)
BNC2
1 review
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)
BRAF
1 review
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)
BRCA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY 616579
Tags
Green Green List (high evidence)
BRCA2
1 review
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)
BRIP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054
Tags
Green Green List (high evidence)
BRPF1
1 review
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)
BRWD3
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARTTER SYNDROME TYPE 4A 602522
Tags
Green Green List (high evidence)
BTD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BIOTINIDASE DEFICIENCY 253260
Tags
Green Green List (high evidence)
BUB1B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
Tags
Green Green List (high evidence)
C11orf70
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
  • new-gene-name
Green Green List (high evidence)
C12orf65
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559
Tags
Green Green List (high evidence)
C21orf2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Axial Spondylometaphyseal Dysplasia
Tags
  • new-gene-name
Green Green List (high evidence)
C2orf71
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMYELOGENESIS 614832
Tags
  • new-gene-name
Green Green List (high evidence)
C5orf42
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 614615
Tags
  • new-gene-name
Green Green List (high evidence)
C8orf37
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONE-ROD DYSTROPHY 16 614500
Tags
Green Green List (high evidence)
CA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
Tags
Green Green List (high evidence)
CA8
1 review
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)
CACNA1C
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TIMOTHY SYNDROME 601005
Tags
Green Green List (high evidence)
CACNA1E
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Tags
  • watchlist
Green Green List (high evidence)
CAD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Uridine-responsive epileptic encephalopathy
Tags
Green Green List (high evidence)
CASK
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
Tags
Green Green List (high evidence)
CC2D1A
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
Tags
Green Green List (high evidence)
CCDC103
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
CCDC114
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
CCDC115
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Disorder of Golgi homeostasis
Tags
Green Green List (high evidence)
CCDC39
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 14 613807
Tags
Green Green List (high evidence)
CCDC40
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 15 613808
Tags
Green Green List (high evidence)
CCDC65
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
CCND2
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 29 615872
Tags
Green Green List (high evidence)
CDC45
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Meier-Gorlin Syndrome and Craniosynostosis
Tags
Green Green List (high evidence)
CDC6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 5 613805
Tags
Green Green List (high evidence)
CDH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Blepharo-cheiro-dontic syndrome
Tags
Green Green List (high evidence)
CDH23
1 review
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
1 review
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
1 review
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)
CDK8
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY 612100
Tags
Green Green List (high evidence)
CDKL5
1 review
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
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HOLOPROSENCEPHALY 11 614226
Tags
Green Green List (high evidence)
CDT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 4 613804
Tags
Green Green List (high evidence)
CENPJ
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 614615
Tags
Green Green List (high evidence)
CEP152
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 15 614464
Tags
Green Green List (high evidence)
CEP57
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
Tags
Green Green List (high evidence)
CEP83
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CHAMP1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CHD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
CHD4
1 review
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
1 review
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)
CHM
1 review
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)
CHRDL1
1 review
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)
CHRNA4
1 review
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)
CHRNG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
Tags
Green Green List (high evidence)
CHST14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776
Tags
Green Green List (high evidence)
CHST3
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282
Tags
Green Green List (high evidence)
CHUK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COCOON SYNDROME 613630
Tags
Green Green List (high evidence)
CIB2
1 review
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)
CISD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WOLFRAM SYNDROME TYPE 2 604928
Tags
Green Green List (high evidence)
CKAP2L
1 review
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)
CLCN7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CLCN7-RELATED OSTEOPETROSIS 611490
Tags
Green Green List (high evidence)
CLDN19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
Tags
Green Green List (high evidence)
CLN3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200
Tags
Green Green List (high evidence)
CLN5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 256731
Tags
Green Green List (high evidence)
CLN6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300
  • CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780
Tags
Green Green List (high evidence)
CLN8
1 review
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)
CLPB
1 review
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)
CNOT3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CNOT3 syndrome
Tags
Green Green List (high evidence)
CNTNAP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042
Tags
Green Green List (high evidence)
COASY
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Tags
Green Green List (high evidence)
COG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG1-CDG 300197
Tags
Green Green List (high evidence)
COG4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG4-CDG 319493
  • Saul-Wilson syndrome 618150
Tags
  • watchlist
Green Green List (high evidence)
COG7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG7-CDG 300171
Tags
Green Green List (high evidence)
COG8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG8-CDG 300204
Tags
Green Green List (high evidence)
COL10A1
1 review
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
1 review
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
1 review
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)
COL18A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KNOBLOCH SYNDROME TYPE I 267750
Tags
Green Green List (high evidence)
COL1A1
1 review
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)
COL2A1
1 review
1 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
  • watchlist
Green Green List (high evidence)
COL4A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PORENCEPHALY 1 175780
Tags
Green Green List (high evidence)
COL4A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PORENCEPHALY 2 614483
Tags
Green Green List (high evidence)
COL4A3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
  • ALPORT SYNDROME AUTOSOMAL DOMINANT 104200
Tags
Green Green List (high evidence)
COL4A3BP
2 reviews
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
Tags
Green Green List (high evidence)
COL6A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COL6A1 associated myopathy
Tags
Green Green List (high evidence)
COL6A3
1 review
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
1 review
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
1 review
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969
  • Stickler syndrome
Tags
  • watchlist
Green Green List (high evidence)
COLEC11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3MC SYNDROME 2 265050
Tags
Green Green List (high evidence)
COMP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400
  • PSEUDOACHONDROPLASIA, 177170
Tags
  • watchlist
Green Green List (high evidence)
COQ2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY 607426
Tags
Green Green List (high evidence)
COQ8A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY 607426
Tags
Green Green List (high evidence)
COQ9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY 607426
Tags
Green Green List (high evidence)
COX10
1 review
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
1 review
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)
COX6B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
Green Green List (high evidence)
COX7B
1 review
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)
CPS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300
Tags
Green Green List (high evidence)
CRB1
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
Tags
Green Green List (high evidence)
CREBBP
1 review
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)
CRX
1 review
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
1 review
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
1 review
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)
CRYBA4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT ZONULAR TYPE 2 610425
  • MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426
Tags
  • watchlist
Green Green List (high evidence)
CRYBB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT 17, MULTIPLE TYPES, MONOALLELIC
  • CATARACT 17, MULTIPLE TYPES
  • CATARACT 17, MULTIPLE TYPES, BIALLELIC
Tags
  • watchlist
Green Green List (high evidence)
CRYBB2
1 review
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
1 review
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT AUTOSOMAL DOMINANT 604219
  • CATARACT COPPOCK-LIKE 604307
Tags
  • watchlist
Green Green List (high evidence)
CRYGD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT CONGENITAL CERULEAN TYPE 3 115700
  • CATARACT AUTOSOMAL DOMINANT 604219
  • CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690
  • CATARACT CRYSTALLINE ACULEIFORM 115700
Tags
  • watchlist
Green Green List (high evidence)
CSF1R
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476
Tags
Green Green List (high evidence)
CSNK2A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CSNK2A1 syndrome
Tags
Green Green List (high evidence)
CSPP1
1 review
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)
CSTB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • UNVERRICHT-LUNDBORG DISEASE 254800
Tags
Green Green List (high evidence)
CTC1
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CTDP1
1 review
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)
CTNNB1
1 review
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)
CTNS
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GALACTOSIALIDOSIS 256540
Tags
Green Green List (high evidence)
CTSD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127
Tags
Green Green List (high evidence)
CTSK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYCNODYSOSTOSIS 265800
Tags
Green Green List (high evidence)
CUL4B
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-M SYNDROME 1 273750
Tags
Green Green List (high evidence)
CWC27
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa, skeletal anomalies and intellectual disability
Tags
Green Green List (high evidence)
CYC1
1 review
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)
CYP1B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
Tags
Green Green List (high evidence)
CYP2U1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEREDITARY SPASTIC PARAPLEGIA 615030
Tags
Green Green List (high evidence)
DAG1
1 review
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
2 reviews
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
1 review
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)
DBT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAPLE SYRUP URINE DISEASEQ 248600
Tags
Green Green List (high evidence)
DCHS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PERIVENTRICULAR NEURONAL HETEROTOPIA
Tags
Green Green List (high evidence)
DCX
1 review
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)
DDB2
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEREDITARY SPASTIC PARAPLEGIA 615030
Tags
Green Green List (high evidence)
DDHD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033
Tags
Green Green List (high evidence)
DDOST
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WARSAW BREAKAGE SYNDROME 613398
Tags
Green Green List (high evidence)
DDX3X
1 review
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)
DEAF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autism, intellectual disability, basal ganglia dysfunction and epilepsy
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828
Tags
  • watchlist
Green Green List (high evidence)
DEGS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKODYSTROPHY, HYPOMYELINATING, 18, 618404
Tags
Green Green List (high evidence)
DEPDC5
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DESMOSTEROLOSIS 238860
Tags
Green Green List (high evidence)
DHCR7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SMITH-LEMLI-OPITZ SYNDROME 270400
Tags
Green Green List (high evidence)
DHFR
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POSTAXIAL ACROFACIAL DYSOSTOSIS 263750
Tags
Green Green List (high evidence)
DIS3L2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PERLMAN SYNDROME 267000
Tags
Green Green List (high evidence)
DKC1
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348
Tags
Green Green List (high evidence)
DLD
1 review
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
1 review
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)
DLL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300
Tags
Green Green List (high evidence)
DLL4
1 review
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
1 review
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
Green Green List (high evidence)
DMP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOPHOSPHATEMIC RICKETS, AR 241520
Tags
Green Green List (high evidence)
DMPK
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DYSTROPHIA MYOTONICA TYPE 1 160900
Tags
Green Green List (high evidence)
DNAAF3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINEASIA 606763
Tags
Green Green List (high evidence)
DNAAF4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSPLASIA
Tags
Green Green List (high evidence)
DNAH9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Motile Cilia Defects and Situs Inversus
Tags
Green Green List (high evidence)
DNMT3A
1 review
1 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
  • watchlist
Green Green List (high evidence)
DNMT3B
1 review
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)
DOCK8
1 review
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)
DOLK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Tags
Green Green List (high evidence)
DPAGT1
1 review
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)
DPM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Tags
Green Green List (high evidence)
DSPP
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805
  • Autosomal Recessive Complicated Spastic Paraparesis SPG23
Tags
  • watchlist
Green Green List (high evidence)
DVL1
1 review
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
1 review
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
1 review
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
1 review
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)
DYNC2H1
1 review
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)
DYRK1A
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Intellectual Disability, Ataxia, and Facial Dysmorphism
Tags
Green Green List (high evidence)
EBP
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DISTAL ARTHROGRYPOSIS TYPE 5D 615065
Tags
Green Green List (high evidence)
EDA
1 review
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
1 review
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)
EDNRA
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ABCD SYNDROME 600501
Tags
Green Green List (high evidence)
EFNB1
1 review
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 304110
Tags
Green Green List (high evidence)
EFTUD2
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253
Tags
Green Green List (high evidence)
EHMT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Kleefstra syndrome
Tags
Green Green List (high evidence)
EIF2AK3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WOLCOTT-RALLISON SYNDROME 226980
Tags
Green Green List (high evidence)
EIF4A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RICHIERI-COSTA-PEREIRA SYNDROME
Tags
Green Green List (high evidence)
ELAC2
1 review
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)
ELN
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457
Tags
Green Green List (high evidence)
ENPP1
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADAMS OLIVER SYNDROME
Tags
Green Green List (high evidence)
EP300
1 review
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)
EPG5
1 review
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)
ERCC1
1 review
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
1 review
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
1 review
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
1 review
1 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
  • watchlist
Green Green List (high evidence)
ERCC5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780
Tags
Green Green List (high evidence)
ERCC6
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BONE MARROW FAILURE SYNDROME 2 615715
Tags
Green Green List (high evidence)
ERCC8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COCKAYNE SYNDROME TYPE A 216400
Tags
Green Green List (high evidence)
ERF
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUTARIC ACIDURIA TYPE 2A 231680
Tags
Green Green List (high evidence)
ETFB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUTARIC ACIDURIA TYPE 2B 231680
Tags
Green Green List (high evidence)
ETFDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUTARIC ACIDURIA TYPE 2C 231680
Tags
Green Green List (high evidence)
ETHE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ETHYLMALONIC ENCEPHALOPATHY 602473
Tags
Green Green List (high evidence)
EVC
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
Tags
Green Green List (high evidence)
EXT1
1 review
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
1 review
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)
EYA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRANCHIOOTORENAL SYNDROME TYPE 1 113650
  • OTOFACIOCERVICAL SYNDROME 166780
Tags
  • watchlist
Green Green List (high evidence)
EZH2
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TYROSINEMIA TYPE 1 276700
Tags
Green Green List (high evidence)
FAM111A
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532
Tags
Green Green List (high evidence)
FAM161A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA 28 606068
Tags
Green Green List (high evidence)
FAM20A
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RAINE SYNDROME 259775
Tags
Green Green List (high evidence)
FAM58A
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650
Tags
Green Green List (high evidence)
FANCB
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645
Tags
Green Green List (high evidence)
FANCD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646
Tags
Green Green List (high evidence)
FANCE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901
Tags
Green Green List (high evidence)
FANCF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467
Tags
Green Green List (high evidence)
FANCG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082
Tags
Green Green List (high evidence)
FANCI
1 review
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)
FAR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
Tags
Green Green List (high evidence)
FARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurometabolic disorder due to FARS2 deficiency
Tags
Green Green List (high evidence)
FAT4
1 review
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ISOLATED ECTOPIA LENTIS 129600
  • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
  • MARFAN SYNDROME 154700
  • WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328
  • MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308
Tags
  • watchlist
Green Green List (high evidence)
FBN2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050
Tags
Green Green List (high evidence)
FBP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700
Tags
Green Green List (high evidence)
FBXL4
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FBXO11 related intellectual disability
  • Variable Neurodevelopmental Disorder
Tags
  • watchlist
Green Green List (high evidence)
FGD1
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LADD SYNDROME 149730
Tags
Green Green List (high evidence)
FGF12
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
FGF3
1 review
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)
FGFR1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PFEIFFER SYNDROME 101600
  • OSTEOGLOPHONIC DYSPLASIA 166250
  • Hartsfield syndrome 615465
  • KALLMANN SYNDROME TYPE 2 147950
  • IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110
  • Encephalocraniocutaneous lipomatosis 613001
Tags
  • mosaicism
Green Green List (high evidence)
FGFR2
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FUMARASE DEFICIENCY 606812
Tags
Green Green List (high evidence)
FHL1
1 review
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)
FKBP14
1 review
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
1 review
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
1 review
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
1 review
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
1 review
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
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MILROY DISEASE 153100
Tags
Green Green List (high evidence)
FLVCR1
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME 225790
Tags
Green Green List (high evidence)
FMR1
1 review
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
  • PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 311360
  • FRAGILE X SYNDROME 300624
  • FRAGILE X TREMOR/ATAXIA SYNDROME 300623
Tags
Green Green List (high evidence)
FOLR1
1 review
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
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BAMFORTH-LAZARUS SYNDROME 241850
Tags
Green Green List (high evidence)
FOXE3
1 review
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
1 review
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
1 review
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)
FOXN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705
Tags
Green Green List (high evidence)
FOXP1
1 review
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)
FOXP3
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY 252010
Tags
Green Green List (high evidence)
FRAS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRASER SYNDROME 219000
Tags
Green Green List (high evidence)
FREM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MANITOBA OCULOTRICHOANAL SYNDROME 248450
Tags
Green Green List (high evidence)
FREM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRASER SYNDROME 219000
Tags
Green Green List (high evidence)
FRMD7
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NYSTAGMUS 1, CONGENITAL, X-LINKED 310700
Tags
Green Green List (high evidence)
FTCD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 229100
Tags
Green Green List (high evidence)
FTL
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FUCOSIDOSIS 230000
Tags
Green Green List (high evidence)
FYCO1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019
Tags
Green Green List (high evidence)
FZD6
1 review
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)
GAA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOGEN STORAGE DISEASE TYPE II 232300
Tags
Green Green List (high evidence)
GABRB3
1 review
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)
GALC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KRABBE DISEASE 245200
Tags
Green Green List (high evidence)
GALE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPIMERASE-DEFICIENCY GALACTOSEMIA 230350
Tags
Green Green List (high evidence)
GALK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GALACTOSEMIA II 230200
Tags
Green Green List (high evidence)
GALNS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 4A 253000
Tags
Green Green List (high evidence)
GALT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GALACTOSEMIA 230400
Tags
Green Green List (high evidence)
GAMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736
Tags
Green Green List (high evidence)
GAS8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
GATA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EMBERGER SYNDROME 614038
Tags
Green Green List (high evidence)
GATA4
1 review
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
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NONSPECIFIC SEVERE ID
Tags
Green Green List (high evidence)
GATM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718
Tags
Green Green List (high evidence)
GBA
1 review
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
Green Green List (high evidence)
GBA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Tags
Green Green List (high evidence)
GCDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUTARICACIDEMIA TYPE 1 231670
Tags
Green Green List (high evidence)
GCH1
1 review
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)
GDF5
1 review
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
1 review
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)
GDI1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 48 300849
  • MENTAL RETARDATION X-LINKED TYPE 41 300849
Tags
Green Green List (high evidence)
GFAP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALEXANDER DISEASE 203450
Tags
Green Green List (high evidence)
GFM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 609060
Tags
Green Green List (high evidence)
GHR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PITUITARY DWARFISM II 262500
Tags
Green Green List (high evidence)
GJA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HALLERMANN-STREIFF SYNDROME 234100
  • HYPOPLASTIC LEFT HEART SYNDROME 241550
  • AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200
  • AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850
  • SYNDACTYLY TYPE 3 186100
Tags
  • watchlist
Green Green List (high evidence)
GJA3
1 review
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
1 review
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
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 2B 612644
  • DEAFNESS, AUTOSOMAL RECESSIVE
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200
Tags
Green Green List (high evidence)
GJC2
1 review
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
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLDC-RELATED GLYCINE ENCEPHALOPATHY 605899
Tags
Green Green List (high evidence)
GLE1
1 review
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
1 review
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
1 review
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)
GLIS3
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLOMUVENOUS MALFORMATIONS 138000
Tags
Green Green List (high evidence)
GLUD1
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015
Tags
Green Green List (high evidence)
GM2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GM2-GANGLIOSIDOSIS TYPE AB 272750
Tags
Green Green List (high evidence)
GMPPA
1 review
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
1 review
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)
GNAI1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GNAI1 syndrome
Tags
Green Green List (high evidence)
GNAI3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AURICULOCONDYLAR SYNDROME 602483
Tags
Green Green List (high evidence)
GNAO1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GNAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GNAS HYPERFUNCTION 139320
  • PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233
  • ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580
  • ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080
Tags
  • mosaicism
Green Green List (high evidence)
GNB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Tags
Green Green List (high evidence)
GNPAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765
Tags
Green Green List (high evidence)
GNPTAB
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3D 252940
Tags
Green Green List (high evidence)
GORAB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Geroderma osteodysplasticum
Tags
Green Green List (high evidence)
GPC3
1 review
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
1 review
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)
GPSM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHUDLEY-MCCULLOUGH SYNDROME
Tags
Green Green List (high evidence)
GRHL3
1 review
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)
GRIA3
1 review
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)
GRIK2
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GRIN2A
1 review
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
1 review
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)
GRM6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270
Tags
Green Green List (high evidence)
GTF2H5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
Tags
Green Green List (high evidence)
GTPBP3
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 7 253220
Tags
Green Green List (high evidence)
HACE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HACE1 related disorder
Tags
Green Green List (high evidence)
HADH
1 review
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
1 review
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
1 review
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
1 review
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
1 review
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
1 review
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
1 review
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
1 review
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
1 review
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)
HEXA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GM2-GANGLIOSIDOSIS TYPE 1 272800
Tags
Green Green List (high evidence)
HEXB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GM2-GANGLIOSIDOSIS TYPE 2 268800
Tags
Green Green List (high evidence)
HGSNAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3C 252930
Tags
Green Green List (high evidence)
HIBCH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HIBCH DEFICIENCY 250620
Tags
Green Green List (high evidence)
HINT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE 137200
Tags
Green Green List (high evidence)
HIVEP2
1 review
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)
HLCS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018
Tags
Green Green List (high evidence)
HMGCL
1 review
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
1 review
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)
HNF1B
1 review
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
1 review
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)
HNRNPK
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Au-Kline Syndrome
Tags
Green Green List (high evidence)
HNRNPR
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY 616579
Tags
Green Green List (high evidence)
HNRNPU
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
HOXA1
1 review
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
1 review
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)
HOXC13
1 review
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
1 review
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)
HPGD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CRANIOOSTEOARTHROPATHY 259100
Tags
Green Green List (high evidence)
HPRT1
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HERMANSKY-PUDLAK SYNDROME 203300
Tags
Green Green List (high evidence)
HPSE2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • UROFACIAL SYNDROME 236730
Tags
Green Green List (high evidence)
HR
1 review
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
1 review
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)
HSD17B10
1 review
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
1 review
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
1 review
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
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 4 612233
Tags
Green Green List (high evidence)
HSPG2
1 review
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
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706
Tags
Green Green List (high evidence)
HYAL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 9 601492
Tags
Green Green List (high evidence)
HYDIN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 5 608647
Tags
Green Green List (high evidence)
HYLS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYDROLETHALUS SYNDROME TYPE 1 236680
Tags
Green Green List (high evidence)
IDS
1 review
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
1 review
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 7 615846
  • SINGLETON-MERTEN SYNDROME 182250
Tags
  • watchlist
Green Green List (high evidence)
IFITM5
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CRANIOECTODERMAL DYSPLASIA 218330
Tags
Green Green List (high evidence)
IFT140
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAINZER-SALDINO SYNDROME 266920
Tags
Green Green List (high evidence)
IFT172
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JEUNE SYNDROME
  • MAINZER-SALDINO SYNDROME 266920
Tags
Green Green List (high evidence)
IFT43
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CRANIOECTODERMAL DYSPLASIA TYPE 3 614099
Tags
Green Green List (high evidence)
IFT80
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ASPHYXIATING THORACIC DYSTROPHY 2 611263
Tags
Green Green List (high evidence)
IGF1
1 review
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
1 review
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
1 review
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)
IGHMBP2
1 review
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
1 review
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
1 review
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
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autosomal Recessive Craniosynostosis
  • Crouzon-like craniosynostosis
Tags
  • watchlist
Green Green List (high evidence)
IL1RAPL1
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078
Tags
Green Green List (high evidence)
INPP5E
1 review
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)
INPPL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OPSISMODYSPLASIA 258480
Tags
Green Green List (high evidence)
IQSEC2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 1 309530
Tags
Green Green List (high evidence)
IRF6
1 review
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)
ISPD
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WALKER WARBURG SYNDROME 614643
Tags
  • new-gene-name
Green Green List (high evidence)
ITGA3
1 review
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL MUSCULAR DYSTROPHY 607855
Tags
Green Green List (high evidence)
ITPR1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPINOCEREBELLAR ATAXIA TYPE15 606658
  • SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360
  • Gillespie Syndrome 206700
Tags
  • watchlist
Green Green List (high evidence)
IVD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ISOVALERIC ACIDEMIA 243500
Tags
Green Green List (high evidence)
JAG1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALAGILLE SYNDROME 279357
Tags
Green Green List (high evidence)
JAGN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE CONGENITAL NEUTROPENIA
Tags
Green Green List (high evidence)
JAK3
1 review
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)
KANSL1
1 review
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
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEAFNESS, AUTOSOMAL RECESSIVE 89 613916
  • CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641
Tags
  • new-gene-name
Green Green List (high evidence)
KAT6A
1 review
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
1 review
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)
KBTBD13
1 review
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
1 review
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
1 review
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
1 review
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)
KCNJ10
1 review
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
1 review
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)
KCNQ1
1 review
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
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KCNQ3 syndrome
Tags
Green Green List (high evidence)
KCNT1
1 review
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
1 review
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
1 review
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)
KDM5C
1 review
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
1 review
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)
KIAA0586
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 614615
Tags
Green Green List (high evidence)
KIF11
1 review
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)
KIF1A
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255
Tags
Green Green List (high evidence)
KIF1BP
2 reviews
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
1 review
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)
KIF7
1 review
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HUMAN PIEBALDISM 172800
Tags
Green Green List (high evidence)
KLF1
1 review
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)
KLHL40
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348
Tags
Green Green List (high evidence)
KMT2A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WIEDEMANN-STEINER SYNDROME 605130
Tags
Green Green List (high evidence)
KMT2D
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KABUKI SYNDROME 147920
Tags
Green Green List (high evidence)
KMT2E
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY 616579
  • Neurodevelopmental disorder and Epilepsy 618512
Tags
Green Green List (high evidence)
KMT5B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KMT5B syndrome
Tags
Green Green List (high evidence)
KRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME 115150
  • NOONAN SYNDROME TYPE 3 609942
Tags
Green Green List (high evidence)
KRIT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860
Tags
Green Green List (high evidence)
L1CAM
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350
  • SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350
  • HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000
  • PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100
Tags
Green Green List (high evidence)
L2HGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • L-2-HYDROXYGLUTARIC ACIDURIA 236792
Tags
Green Green List (high evidence)
LAMA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Green Green List (high evidence)
LAMA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL MUSCULAR DYSTROPHY 607855
Tags
Green Green List (high evidence)
LAMC3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OCCIPITAL CORTICAL MALFORMATIONS 614115
Tags
Green Green List (high evidence)
LAMP2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DANON DISEASE 300257
Tags
Green Green List (high evidence)
LARGE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840
Tags
Green Green List (high evidence)
LARP7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALAZAMI SYNDROME 615071
Tags
Green Green List (high evidence)
LBR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140
Tags
Green Green List (high evidence)
LDB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493
  • CARDIOMYOPATHY DILATED TYPE 1C 601493
  • MYOPATHY MYOFIBRILLAR TYPE 4 609452
Tags
Green Green List (high evidence)
LEMD3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MELORHEOSTOSIS 155950
  • BUSCHKE-OLLENDORFF SYNDROME 166700
Tags
Green Green List (high evidence)
LFNG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813
Tags
Green Green List (high evidence)
LHX3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750
Tags
Green Green List (high evidence)
LHX4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135
Tags
Green Green List (high evidence)
LIG4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION 602450
  • LIG4 SYNDROME 606593
Tags
Green Green List (high evidence)
LMBRD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF 277380
Tags
Green Green List (high evidence)
LMNA
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588
  • CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112
  • MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205
  • FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660
  • CARDIOMYOPATHY DILATED TYPE 1A 115200
  • HUTCHINSON-GILFORD PROGERIA SYNDROME 176670
  • LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210
  • HEART-HAND SYNDROME SLOVENIAN TYPE 610140
  • MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370
  • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001
  • EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350
Tags
Green Green List (high evidence)
LMX1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NAIL-PATELLA SYNDROME 161200
Tags
Green Green List (high evidence)
LRP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
  • DONNAI-BARROW SYNDROME 222448
Tags
  • watchlist
Green Green List (high evidence)
LRP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CENANI-LENZ SYNDACTYLY SYNDROME 212780
Tags
Green Green List (high evidence)
LRP5
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VITREORETINOPATHY EXUDATIVE TYPE 4 601813
  • OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770
  • HIGH BONE MASS TRAIT 601884
  • OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634
  • ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750
Tags
Green Green List (high evidence)
LRPPRC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111
Tags
Green Green List (high evidence)
LRRC6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DISKINESIA 614935
Tags
Green Green List (high evidence)
LTBP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROSPHEROPHAKIA 251750
  • PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086
Tags
Green Green List (high evidence)
LTBP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216
Tags
Green Green List (high evidence)
LYST
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHEDIAK-HIGASHI SYNDROME 214500
Tags
Green Green List (high evidence)
MAB21L2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA, SYNDROMIC 14 615877
Tags
Green Green List (high evidence)
MAF
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
  • CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202
  • CATARACT CONGENITAL CERULEAN TYPE 4 610202
Tags
Green Green List (high evidence)
MAFB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300
  • Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
Tags
  • watchlist
Green Green List (high evidence)
MAGEL2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Schaaf-Yang syndrome
  • ARTHROGRYPOSIS MULTIPLEX CONGENITA
Tags
  • watchlist
Green Green List (high evidence)
MAN1B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Green Green List (high evidence)
MAN2B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LYSOSOMAL ALPHA-MANNOSIDOSIS 248500
Tags
Green Green List (high evidence)
MANBA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LYSOSOMAL BETA-MANNOSIDOSIS 248510
Tags
Green Green List (high evidence)
MAP2K1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME 115150
Tags
Green Green List (high evidence)
MAP2K2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME 115150
Tags
Green Green List (high evidence)
MAP3K1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 46XY SEX REVERSAL 6 613762
Tags
Green Green List (high evidence)
MAPRE2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Circumferential Skin Creases Kunze Type
Tags
Green Green List (high evidence)
MASP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3MC SYNDROME 1 257920
Tags
Green Green List (high evidence)
MATN3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078
Tags
Green Green List (high evidence)
MC2R
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUCOCORTICOID DEFICIENCY 1 202200
Tags
Green Green List (high evidence)
MCCC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200
Tags
Green Green List (high evidence)
MCCC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210
Tags
Green Green List (high evidence)
MCEE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLMALONYL-COA EPIMERASE DEFICIENCY 251120
Tags
Green Green List (high evidence)
MCOLN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOLIPIDOSIS IV 252650
Tags
Green Green List (high evidence)
MCPH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 1 251200
Tags
Green Green List (high evidence)
MECP2
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260
  • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055
  • CHROMOSOME XQ28 DUPLICATION SYNDROME 300815
  • ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673
  • RETT SYNDROME (RTT)[ 312750
Tags
Green Green List (high evidence)
MED12
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OPITZ-KAVEGGIA SYNDROME 305450
  • LUJAN-FRYNS SYNDROME 309520
Tags
Green Green List (high evidence)
MEF2C
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443
Tags
Green Green List (high evidence)
MEGF10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399
Tags
Green Green List (high evidence)
MEGF8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARPENTER SYNDROME 201000
Tags
Green Green List (high evidence)
MESP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 608681
Tags
Green Green List (high evidence)
MFRP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NANOPHTHALMOS 2 609549
  • MICROPHTHALMIA ISOLATED TYPE 5 611040
Tags
Green Green List (high evidence)
MFSD2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486
Tags
Green Green List (high evidence)
MFSD8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951
Tags
Green Green List (high evidence)
MGAT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A 212066
Tags
Green Green List (high evidence)
MGP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KEUTEL SYNDROME 245150
Tags
Green Green List (high evidence)
MICU1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673
Tags
Green Green List (high evidence)
MID1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OPITZ G/BBB SYNDROME, X-LINKED 300000
Tags
Green Green List (high evidence)
MITF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306
  • WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470
  • TIETZ SYNDROME 103500
  • WAARDENBURG SYNDROME TYPE 2A 193510
Tags
  • watchlist
Green Green List (high evidence)
MKKS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 6 209900
  • MCKUSICK-KAUFMAN SYNDROME 236700
Tags
Green Green List (high evidence)
MKS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MECKEL SYNDROME TYPE 1 249000
  • BARDET-BIEDL SYNDROME TYPE 13 209900
Tags
Green Green List (high evidence)
MLC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS 604004
Tags
Green Green List (high evidence)
MLYCD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MALONYL-COA DECARBOXYLASE DEFICIENCY 167676
Tags
Green Green List (high evidence)
MMAA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLMALONIC ACIDURIA TYPE CBLA 251100
Tags
Green Green List (high evidence)
MMAB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLMALONIC ACIDURIA TYPE CBLB 251110
Tags
Green Green List (high evidence)
MMACHC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400
Tags
Green Green List (high evidence)
MMADHC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410
Tags
Green Green List (high evidence)
MMP13
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METAPHYSEAL ANADYSPLASIA TYPE 1 602111
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111
Tags
Green Green List (high evidence)
MMP21
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MMP21-associated heterotaxy
Tags
Green Green List (high evidence)
MNX1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CURRARINO SYNDROME 176450
Tags
Green Green List (high evidence)
MOCS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOLYBDENUM COFACTOR DEFICIENCY 603707
Tags
Green Green List (high evidence)
MOCS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOLYBDENUM COFACTOR DEFICIENCY 603707
Tags
Green Green List (high evidence)
MPDU1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Tags
Green Green List (high evidence)
MPI
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Tags
Green Green List (high evidence)
MPLKIP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050
Tags
Green Green List (high evidence)
MPV17
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810
Tags
Green Green List (high evidence)
MRE11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATAXIA TELANGIECTASIA-LIKE DISORDER 604391
Tags
Green Green List (high evidence)
MSL3
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MSL3 syndrome
Tags
Green Green List (high evidence)
MSX1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CLEFT LIP +/- CLEFT PALATE 608874
Tags
Green Green List (high evidence)
MSX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550
  • CRANIOSYNOSTOSIS, TYPE 2 604757
Tags
Green Green List (high evidence)
MT-TP
1 review
MITOCHONDRIAL
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MERRF 545000
Tags
Green Green List (high evidence)
MTHFR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250
Tags
Green Green List (high evidence)
MTM1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MYOTUBULAR MYOPATHY, X-LINKED 310400
Tags
Green Green List (high evidence)
MTO1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702
Tags
Green Green List (high evidence)
MTOR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Smith-Kingsmore syndrome
Tags
  • watchlist
Green Green List (high evidence)
MTR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLCOBALAMIN DEFICIENCY TYPE G 250940
Tags
Green Green List (high evidence)
MTRR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270
Tags
Green Green List (high evidence)
MUT
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • METHYLMALONIC ACIDURIA TYPE MUT 251000
Tags
  • new-gene-name
Green Green List (high evidence)
MYCN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FEINGOLD SYNDROME TYPE 1 164280
Tags
Green Green List (high evidence)
MYH3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DISTAL ARTHROGRYPOSIS TYPE 2A 193700
  • DISTAL ARTHROGRYPOSIS TYPE 2B 601680
  • Recessive Spondylocarpotarsal Synostosis Syndrome
Tags
  • watchlist
Green Green List (high evidence)
MYH6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARDIOMYOPATHY DILATED TYPE 1EE 613252
  • CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251
  • ATRIAL SEPTAL DEFECT TYPE 3 614089
Tags
Green Green List (high evidence)
MYH8
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DISTAL ARTHROGRYPOSIS TYPE 158300
  • CARNEY COMPLEX VARIANT 608837
Tags
Green Green List (high evidence)
MYH9
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622
  • SEBASTIAN SYNDROME 155100
  • MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100
  • EPSTEIN SYNDROME 155100
  • MAY-HEGGLIN ANOMALY 155100
  • FECHTNER SYNDROME 155100
Tags
Green Green List (high evidence)
MYO5A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ELEJALDE SYNDROME 256710
  • GRISCELLI SYNDROME TYPE 3 609227
Tags
Green Green List (high evidence)
MYO5B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROVILLUS INCLUSION DISEASE 251850
Tags
Green Green List (high evidence)
MYO7A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • USHER SYNDROME TYPE 1B 276900
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 600060
Tags
Green Green List (high evidence)
MYT1L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MYT1L syndrome
  • INTELLECTUAL DISABILITY
Tags
  • watchlist
Green Green List (high evidence)
NAA10
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • X-linked anophthalmia syndrome/Lenz
  • NONPECIFIC SEVERE ID
  • X-linked anophthalmia syndrome
  • OGDEN SYNDROME 300855
Tags
Green Green List (high evidence)
NACC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Tags
Green Green List (high evidence)
NAGA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCHINDLER DISEASE 609241
  • KANZAKI DISEASE 609242
Tags
Green Green List (high evidence)
NAGLU
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3B 252920
Tags
Green Green List (high evidence)
NAGS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 237310
Tags
Green Green List (high evidence)
NALCN
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419
  • CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 616266
  • SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY
Tags
Green Green List (high evidence)
NANS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • infantile-onset severe developmental delay and skeletal dysplasia
Tags
Green Green List (high evidence)
NBAS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
  • ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
  • SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483
Tags
Green Green List (high evidence)
NBN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NIJMEGEN BREAKAGE SYNDROME 251260
Tags
Green Green List (high evidence)
NDE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LISSENCEPHALY 4 614019
Tags
Green Green List (high evidence)
NDP
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NORRIE DISEASE 310600
Tags
Green Green List (high evidence)
NDUFA1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
Tags
Green Green List (high evidence)
NDUFS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
  • LEIGH SYNDROME 256000
Tags
Green Green List (high evidence)
NDUFS4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
  • LEIGH SYNDROME 256000
  • LEIGH SYNDROME DUP 256000
Tags
Green Green List (high evidence)
NDUFS7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
Tags
Green Green List (high evidence)
NDUFS8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
Tags
Green Green List (high evidence)
NDUFV1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY 252010
Tags
Green Green List (high evidence)
NEB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY 256030
Tags
Green Green List (high evidence)
NECTIN4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 613573
Tags
Green Green List (high evidence)
NEK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520
Tags
  • monogenic-polygenic
Green Green List (high evidence)
NEU1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SIALIDOSIS 256550
Tags
Green Green List (high evidence)
NF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WATSON SYNDROME 193520
  • NEUROFIBROMATOSIS TYPE 1 162200
  • NEUROFIBROMATOSIS-NOONAN SYNDROME 601321
  • FAMILIAL SPINAL NEUROFIBROMATOSIS 162210
Tags
Green Green List (high evidence)
NFIX
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MARSHALL-SMITH SYNDROME 602535
  • SOTOS-LIKE SYNDROME 614753
Tags
Green Green List (high evidence)
NFU1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711
Tags
Green Green List (high evidence)
NGLY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF DEGLYCOSYLATION 615273
Tags
Green Green List (high evidence)
NHS
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NANCE-HORAN SYNDROME 302350
  • CATARACT CONGENITAL X-LINKED 302200
Tags
Green Green List (high evidence)
NIPBL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORNELIA DE LANGE SYNDROME TYPE 1 122470
Tags
Green Green List (high evidence)
NKX2-1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 610978
  • BENIGN HEREDITARY CHOREA 118700
Tags
Green Green List (high evidence)
NKX2-5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900
  • TETRALOGY OF FALLOT 187500
  • CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 225250
Tags
Green Green List (high evidence)
NKX3-2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA 613330
Tags
Green Green List (high evidence)
NMNAT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEBER CONGENITAL AMAUROSIS 608553
Tags
Green Green List (high evidence)
NODAL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HETEROTAXY SYNDROME 207574
Tags
Green Green List (high evidence)
NOG
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TARSAL-CARPAL COALITION SYNDROME 186570
  • MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500
  • STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460
  • BRACHYDACTYLY TYPE B2 611377
  • SYMPHALANGISM PROXIMAL SYNDROME 185800
Tags
Green Green List (high evidence)
NOTCH2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HAJDU-CHENEY SYNDROME 102500
Tags
Green Green List (high evidence)
NPC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NIEMANN-PICK DISEASE, TYPE C1 257220
Tags
Green Green List (high evidence)
NPC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NIEMANN-PICK DISEASE, TYPE C2 607625
Tags
Green Green List (high evidence)
NPHP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME TYPE 4 609583
  • NEPHRONOPHTHISIS TYPE 1 256100
  • SENIOR-LOKEN SYNDROME TYPE 1 266900
Tags
Green Green List (high evidence)
NPHP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEPHRONOPHTHISIS TYPE 3 604387
  • RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540
  • MECKEL SYNDROME TYPE 7 267010
Tags
Green Green List (high evidence)
NPHP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEPHRONOPHTHISIS TYPE 4 606966
Tags
Green Green List (high evidence)
NPHS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEPHROTIC SYNDROME TYPE 1 256300
Tags
Green Green List (high evidence)
NPHS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEPHROTIC SYNDROME, TYPE 2 600995
Tags
Green Green List (high evidence)
NPR2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875
Tags
Green Green List (high evidence)
NR2F1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME 615722
Tags
Green Green List (high evidence)
NR2F2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL HEART DEFECTS and XX sex reversal
Tags
Green Green List (high evidence)
NR5A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPERMATOGENIC FAILURE 8 613957
  • 46XY SEX REVERSAL 3 612965
Tags
Green Green List (high evidence)
NRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME TYPE 6 613224
Tags
Green Green List (high evidence)
NSD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WEAVER SYNDROME 277590
  • BECKWITH-WIEDEMANN SYNDROME 130650
  • SOTOS SYNDROME 117550
Tags
Green Green List (high evidence)
NSDHL
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CK SYNDROME 300831
  • CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS 308050
Tags
Green Green List (high evidence)
NT5C3A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY 266120
Tags
Green Green List (high evidence)
NTRK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800
Tags
Green Green List (high evidence)
NUBPL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY 252010
Tags
Green Green List (high evidence)
NUP107
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GALLOWAY-MOWAT SYNDROME 7, 618348
  • EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
Tags
  • watchlist
Green Green List (high evidence)
NYX
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 310500
Tags
Green Green List (high evidence)
OBSL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-M SYNDROME 2 612921
Tags
Green Green List (high evidence)
OCRL
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DENT DISEASE TYPE 2 300555
  • LOWE OCULOCEREBRORENAL SYNDROME 309000
Tags
Green Green List (high evidence)
OFD1
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 300209
  • ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 311200
  • JOUBERT SYNDROME TYPE 10 300804
Tags
Green Green List (high evidence)
OPHN1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486
Tags
Green Green List (high evidence)
ORC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 1 224690
Tags
Green Green List (high evidence)
ORC4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 2 613800
Tags
Green Green List (high evidence)
ORC6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 3 613803
Tags
Green Green List (high evidence)
OTC
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250
Tags
Green Green List (high evidence)
OTOGL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MODERATE SENSORINEURAL HEARING LOSS 614944
Tags
Green Green List (high evidence)
OTULIN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Otulin-related auto inflammatory syndrome
Tags
Green Green List (high evidence)
OTX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA SYNDROMIC TYPE 5 610125
Tags
Green Green List (high evidence)
OXCT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY 245050
Tags
Green Green List (high evidence)
P3H1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OSTEOGENESIS IMPERFECTA, TYPE VIII 610915
Tags
Green Green List (high evidence)
PAFAH1B1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SUBCORTICAL BAND HETEROTOPIA 607432
  • LISSENCEPHALY TYPE 1 607432
Tags
Green Green List (high evidence)
PAH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600
  • PHENYLKETONURIA 261600
Tags
Green Green List (high evidence)
PAK3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AGENESIS OF THE CORPUS CALLOSUM
  • MENTAL RETARDATION X-LINKED TYPE 30 300558
Tags
Green Green List (high evidence)
PALB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832
Tags
Green Green List (high evidence)
PAPSS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE 612847
Tags
Green Green List (high evidence)
PARN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 6
Tags
Green Green List (high evidence)
PAX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RENAL-COLOBOMA SYNDROME 120330
Tags
Green Green List (high evidence)
PAX3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 1 193500
  • CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880
Tags
Green Green List (high evidence)
PAX6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COLOBOMA OF OPTIC NERVE 120430
  • ANIRIDIA 106210
  • FOVEAL HYPOPLASIA 136520
  • BILATERAL OPTIC NERVE HYPOPLASIA 165550
  • KERATITIS HEREDITARY 148190
  • PETERS ANOMALY 604229
  • ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700
Tags
Green Green List (high evidence)
PAX8
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700
Tags
Green Green List (high evidence)
PAX9
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TOOTH AGENESIS, SELECTIVE, 3 604625
Tags
Green Green List (high evidence)
PC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYRUVATE CARBOXYLASE DEFICIENCY 266150
Tags
Green Green List (high evidence)
PCBD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070
Tags
Green Green List (high evidence)
PCCA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROPIONIC ACIDEMIA 606054
Tags
Green Green List (high evidence)
PCCB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROPIONIC ACIDEMIA 606054
Tags
Green Green List (high evidence)
PCDH19
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088
Tags
Green Green List (high evidence)
PCGF2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DUSBILITY
  • Craniofacial Neurological Cardiovascular and Skeletal Features
Tags
  • watchlist
Green Green List (high evidence)
PCNT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720
Tags
Green Green List (high evidence)
PCYT1A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 608940
Tags
Green Green List (high evidence)
PDCD10
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 603285
Tags
Green Green List (high evidence)
PDE4D
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACRODYSOSTOSIS 101800
Tags
Green Green List (high evidence)
PDE6G
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA 57 613582
Tags
Green Green List (high evidence)
PDGFRB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812
  • FAMILIAL INFANTILE MYOFIBROMATOSIS 228550
Tags
Green Green List (high evidence)
PDHA1
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILTIY 312170
  • X-LINKED LEIGH SYNDROME 312170
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170
Tags
Green Green List (high evidence)
PDHX
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349
Tags
Green Green List (high evidence)
PDSS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652
Tags
Green Green List (high evidence)
PEPD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROLIDASE DEFICIENCY 170100
Tags
Green Green List (high evidence)
PEX1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136
  • ADRENOLEUKODYSTROPHY NEONATAL 202370
  • INFANTILE REFSUM DISEASE 266510
Tags
Green Green List (high evidence)
PEX10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • ADRENOLEUKODYSTROPHY NEONATAL 202370
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859
Tags
Green Green List (high evidence)
PEX11B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 14B
Tags
Green Green List (high evidence)
PEX12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758
Tags
Green Green List (high evidence)
PEX13
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789
  • ADRENOLEUKODYSTROPHY NEONATAL 202370
Tags
Green Green List (high evidence)
PEX14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791
Tags
Green Green List (high evidence)
PEX16
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360
Tags
Green Green List (high evidence)
PEX19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279
Tags
Green Green List (high evidence)
PEX2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 170993
  • INFANTILE REFSUM DISEASE 266510
Tags
Green Green List (high evidence)
PEX26
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 608666
  • ADRENOLEUKODYSTROPHY NEONATAL 202370
  • INFANTILE REFSUM DISEASE 266510
Tags
Green Green List (high evidence)
PEX3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 603164
Tags
Green Green List (high evidence)
PEX5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • ADRENOLEUKODYSTROPHY NEONATAL 202370
  • INFANTILE REFSUM DISEASE 266510
Tags
Green Green List (high evidence)
PEX6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME 214100
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498
Tags
Green Green List (high evidence)
PEX7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • REFSUM DISEASE 266500
  • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757
Tags
Green Green List (high evidence)
PGAP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
PGAP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716
Tags
Green Green List (high evidence)
PGK1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653
Tags
Green Green List (high evidence)
PGM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921
Tags
Green Green List (high evidence)
PGM3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • IMMUNODEFICIENCY 23 615816
Tags
Green Green List (high evidence)
PHF6
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900
Tags
Green Green List (high evidence)
PHF8
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263
Tags
Green Green List (high evidence)
PHGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815
  • NEU-LAXOVA SYNDROME 256520
Tags
Green Green List (high evidence)
PHIP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental delay, ID, obesity and dysmorphic features
Tags
Green Green List (high evidence)
PHOX2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880
  • NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013
Tags
Green Green List (high evidence)
PIEZO2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARTHROGRYPOSIS, DISTAL, TYPE 3 114300
  • Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception
Tags
Green Green List (high evidence)
PIGA
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868
Tags
Green Green List (high evidence)
PIGB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality
Tags
Green Green List (high evidence)
PIGL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ZUNICH NEUROECTODERMAL SYNDROME 280000
Tags
Green Green List (high evidence)
PIGO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749
Tags
Green Green List (high evidence)
PIGT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398
Tags
Green Green List (high evidence)
PIGV
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300
Tags
Green Green List (high evidence)
PIK3CA
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918
  • MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501
  • HEMIMEGALENCEPHALY PIK3CA
Tags
  • mosaicism
Green Green List (high evidence)
PIK3R1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SHORT SYNDROME 269880
  • AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214
Tags
Green Green List (high evidence)
PIK3R2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387
Tags
Green Green List (high evidence)
PITX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AXENFELD-RIEGER SYNDROME TYPE 1 180500
  • PETERS ANOMALY 604229
  • RING DERMOID OF CORNEA 180550
  • IRIDOGONIODYSGENESIS TYPE 2 137600
Tags
Green Green List (high evidence)
PITX3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT AUTOSOMAL DOMINANT 604219
  • CATARACT POSTERIOR POLAR TYPE 4 610623
  • ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250
Tags
Green Green List (high evidence)
PKD1L1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Laterality defects
Tags
Green Green List (high evidence)
PKHD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200
Tags
Green Green List (high evidence)
PLA2G6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE NEUROAXONAL DYSTROPHY 1 256600
  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217
Tags
Green Green List (high evidence)
PLCE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEPHROTIC SYNDROME, TYPE 3 610725
Tags
Green Green List (high evidence)
PLK4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171
Tags
Green Green List (high evidence)
PLOD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400
Tags
Green Green List (high evidence)
PLOD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRUCK SYNDROME TYPE 2 609220
Tags
Green Green List (high evidence)
PLP1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080
Tags
Green Green List (high evidence)
PMM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Tags
Green Green List (high evidence)
PMS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME 276300
Tags
Green Green List (high evidence)
PNKP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402
  • ATAXIA-OCULOMOTOR APRAXIA 4 616267
Tags
Green Green List (high evidence)
PNPT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEARING LOSS
  • RESPIRATORY CHAIN DISORDER 614932
Tags
Green Green List (high evidence)
POC1A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMORDIAL DWARFISM 615272
  • SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813
Tags
Green Green List (high evidence)
POC1B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
Tags
Green Green List (high evidence)
POGZ
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
POLA1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VAN ESCH-O'DRISCOLL SYNDROME 301030
Tags
Green Green List (high evidence)
POLD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Tags
Green Green List (high evidence)
POLG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700
Tags
Green Green List (high evidence)
POLR1C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TREACHER COLLINS SYNDROME TYPE 3 248390
Tags
Green Green List (high evidence)
POLR1D
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TREACHER COLLINS SYNDROME TYPE 2 613717
Tags
Green Green List (high evidence)
POLR2A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY 612100
Tags
Green Green List (high evidence)
POLR3A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autosomal Recessive Wiedemann Rautenstrauch Syndrome
  • LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694
Tags
Green Green List (high evidence)
POLR3B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Green Green List (high evidence)
POMGNT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 613157
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 253280
Tags
Green Green List (high evidence)
POMGNT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WALKER WARBERG SYNDROME 614830
Tags
Green Green List (high evidence)
POMT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 609308
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 613155
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 236670
Tags
Green Green List (high evidence)
POMT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 613150
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 613158
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156
Tags
Green Green List (high evidence)
PORCN
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FOCAL DERMAL HYPOPLASIA 305600
Tags
Green Green List (high evidence)
POU1F1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038
Tags
Green Green List (high evidence)
POU3F3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY 616579
Tags
Green Green List (high evidence)
PPA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Sudden arrhythmic cardiac death after infectious or alcohol trigger
Tags
Green Green List (high evidence)
PPM1D
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PPM1D syndrome
Tags
Green Green List (high evidence)
PPP1CB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Rasopathy with developmental delay, short stature and sparse slow-growing hair
Tags
Green Green List (high evidence)
PPP2R1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
PPP2R5D
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
PPT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 256730
Tags
Green Green List (high evidence)
PQBP1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RENPENNING S(YNDROME 1 309500
Tags
Green Green List (high evidence)
PRDM12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488
Tags
Green Green List (high evidence)
PRKAR1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACRODYSOSTOSIS 101800
Tags
Green Green List (high evidence)
PRKD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Syndromic congenital heart defects
Tags
Green Green List (high evidence)
PRMT7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Pseudohypoparathyroidism-like disorder
Tags
Green Green List (high evidence)
PROP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600
Tags
Green Green List (high evidence)
PRPS1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARTS SYNDROME 301835
  • PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661
  • DEAFNESS X-LINKED TYPE 1 304500
  • CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070
Tags
Green Green List (high evidence)
PRRT2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066
Tags
Green Green List (high evidence)
PRSS12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500
Tags
Green Green List (high evidence)
PRSS56
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA ISOLATED TYPE 6 613517
Tags
Green Green List (high evidence)
PSAP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATYPICAL KRABBE DISEASE 611722
Tags
Green Green List (high evidence)
PSMB8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NAKAJO SYNDROME 256040
Tags
Green Green List (high evidence)
PSPH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023
  • NEU-LAXOVA 256520
Tags
Green Green List (high evidence)
PTCH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BASAL CELL NEVUS SYNDROME 109400
  • HOLOPROSENCEPHALY-7 610828
Tags
Green Green List (high evidence)
PTCHD1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTISM/ID 300830
Tags
Green Green List (high evidence)
PTDSS1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050
Tags
Green Green List (high evidence)
PTEN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BANNAYAN-ZONANA SYNDROME 153480
  • COWDEN DISEASE 158350
  • MACROCEPHALY/AUTISM SYNDROME 605309
  • VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
  • PROTEUS SYNDROME 176920
  • LHERMITTE-DUCLOS DISEASE 158350
Tags
  • mosaicism
Green Green List (high evidence)
PTF1A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069
  • PANCREATIC AGENESIS
Tags
Green Green List (high evidence)
PTH1R
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400
  • EIKEN SKELETAL DYSPLASIA 600002
  • PRIMARY FAILURE OF TOOTH ERUPTION 125350
  • CHONDRODYSPLASIA BLOMSTRAND TYPE 215045
Tags
Green Green List (high evidence)
PTHLH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY, TYPE E2 613382
  • CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Tags
Green Green List (high evidence)
PTPN11
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEOPARD SYNDROME TYPE 1 151100
  • NOONAN SYNDROME 1 163950
Tags
Green Green List (high evidence)
PTS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640
Tags
Green Green List (high evidence)
PUF60
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 8Q24.3 DELETION-LIKE
  • PUF60 syndrome
Tags
  • watchlist
Green Green List (high evidence)
PURA
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
PYCR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940
Tags
Green Green List (high evidence)
PYGL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOGEN STORAGE DISEASE TYPE VI 232700
Tags
Green Green List (high evidence)
QDPR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BH4-DEFICIENT HYPERPHENYLALANINEMIA C 261630
Tags
Green Green List (high evidence)
QRICH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • QRICH1 syndrome
Tags
Green Green List (high evidence)
RAB18
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WARBURG MICRO SYNDROME TYPE 3 614222
Tags
Green Green List (high evidence)
RAB23
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000
Tags
Green Green List (high evidence)
RAB39B
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271
Tags
Green Green List (high evidence)
RAB3GAP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WARBURG MICRO SYNDROME TYPE 1 600118
Tags
Green Green List (high evidence)
RAB3GAP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MARTSOLF SYNDROME 212720
Tags
Green Green List (high evidence)
RAD21
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COHESINOPATHY 614701
Tags
Green Green List (high evidence)
RAF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME 5 611553
Tags
Green Green List (high evidence)
RAI1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SMITH-MAGENIS SYNDROME 182290
Tags
Green Green List (high evidence)
RAPSN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931
  • FETAL AKINESIA DEFORMATION SEQUENCE 208150
Tags
Green Green List (high evidence)
RARB
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Tags
Green Green List (high evidence)
RARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922
Tags
Green Green List (high evidence)
RASA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PARKES WEBER SYNDROME 608355
  • CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354
Tags
Green Green List (high evidence)
RAX
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA ISOLATED TYPE 3 611038
Tags
Green Green List (high evidence)
RBM8A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000
Tags
Green Green List (high evidence)
RECQL4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RAPADILINO SYNDROME 266280
  • BALLER-GEROLD SYNDROME 218600
  • ROTHMUND-THOMSON SYNDROME 268400
Tags
Green Green List (high evidence)
RELN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LISSENCEPHALY 2 319306
Tags
Green Green List (high evidence)
RERE
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Phenocopy of Proximal 1p36 Deletions
Tags
Green Green List (high evidence)
RET
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RENAL AGENESIS 191830
  • MULTIPLE ENDOCRINE NEOPLASIA IIB 162300
Tags
Green Green List (high evidence)
RETREG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115
Tags
Green Green List (high evidence)
RFX6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MARTINEZ-FRIAS SYNDROME 601346
Tags
Green Green List (high evidence)
RIPK4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650
Tags
Green Green List (high evidence)
RIT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME 8 615355
Tags
Green Green List (high evidence)
RMRP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARTILAGE-HAIR HYPOPLASIA 250250
Tags
Green Green List (high evidence)
RNASEH2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 4 610333
Tags
Green Green List (high evidence)
RNASEH2B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 2 610181
Tags
Green Green List (high evidence)
RNASEH2C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 3 610329
Tags
Green Green List (high evidence)
RNASET2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY 612951
Tags
Green Green List (high evidence)
RNU4ATAC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710
Tags
Green Green List (high evidence)
ROBO3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS 607313
Tags
Green Green List (high evidence)
ROGDI
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KOHLSCHŸTTER-TšNZ SYNDROME 226750
Tags
Green Green List (high evidence)
ROR2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700
  • BRACHYDACTYLY, TYPE B1 113000
  • ROR2-RELATED DISORDERS AR 268310
Tags
Green Green List (high evidence)
RPE65
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEBER CONGENITAL AMAUROSIS 608553
Tags
Green Green List (high evidence)
RPGRIP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEBER CONGENITAL AMAUROSIS 6 613826
  • CONE-ROD DYSTROPHY 13 608194
Tags
Green Green List (high evidence)
RPGRIP1L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MECKEL SYNDROME TYPE 5 611561
  • JOUBERT SYNDROME TYPE 7 611560
  • COACH SYNDROME 216360
Tags
Green Green List (high evidence)
RPL11
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia with cleft palate and abnormal thumbs
Tags
Green Green List (high evidence)
RPS19
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176
Tags
Green Green List (high evidence)
RPS6KA3
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Coffin-Lowry Syndrome 2 RPS6KA3 XLD
  • Coffin-Lowry Syndrome 2 RPS6KA3 XLR
Tags
Green Green List (high evidence)
RRAS2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Noonan syndrome
Tags
Green Green List (high evidence)
RRM2B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Mitochondrial depletion syndrome
Tags
Green Green List (high evidence)
RSPH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS
Tags
Green Green List (high evidence)
RSPH3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS
Tags
Green Green List (high evidence)
RSPO4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANONYCHIA CONGENITA 206800
Tags
Green Green List (high evidence)
RTEL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190
Tags
Green Green List (high evidence)
RTN4IP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Tags
Green Green List (high evidence)
RTTN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BILATERAL DIFFUSE POLYMICROGYRIA 614833
Tags
Green Green List (high evidence)
RUNX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CLEIDOCRANIAL DYSPLASIA 119600
Tags
Green Green List (high evidence)
RYR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320
Tags
Green Green List (high evidence)
SALL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TOWNES-BROCKS SYNDROME 107480
Tags
Green Green List (high evidence)
SALL4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACRO-RENAL-OCULAR SYNDROME 607323
  • DUANE-RADIAL RAY SYNDROME 607323
Tags
Green Green List (high evidence)
SAMD9
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
Tags
Green Green List (high evidence)
SAMHD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICARDI-GOUTIERES SYNDROME 239588
Tags
Green Green List (high evidence)
SATB2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NONSPECIFIC SEVERE ID
  • CLEFT PALATE ISOLATED 119540
  • SYNDROMAL PIERRE ROBIN SEQUENCE
Tags
Green Green List (high evidence)
SBDS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SHWACHMAN-DIAMOND SYNDROME 607444
Tags
Green Green List (high evidence)
SC5D
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LATHOSTEROLOSIS 607330
Tags
Green Green List (high evidence)
SCARF2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VAN DEN ENDE-GUPTA SYNDROME 600920
Tags
Green Green List (high evidence)
SCN11A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL INABILITY TO EXPERIENCE PAIN
  • EPISODIC PAIN SYNDROME, FAMILIAL 615552
Tags
  • watchlist
Green Green List (high evidence)
SCN1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCN1A-RELATED SEIZURE DISORDERS 607208
Tags
Green Green List (high evidence)
SCN1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233
  • BRUGADA SYNDROME 5 612838
Tags
Green Green List (high evidence)
SCN2A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NONSPECIFIC SEVERE ID
  • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968
  • INFANTILE EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
SCN4A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOKALEMIC PERIODIC PARALYSIS 613345
  • PARAMYOTONIA CONGENITA OF VON EULENBURG 168300
  • HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500
Tags
Green Green List (high evidence)
SCN8A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558
Tags
Green Green List (high evidence)
SCO1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
Green Green List (high evidence)
SCO2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377
Tags
Green Green List (high evidence)
SDCCAG8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SENIOR-LOKEN SYNDROME 7 613615
Tags
Green Green List (high evidence)
SDHA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEIGH SYNDROME 256000
Tags
Green Green List (high evidence)
SDHAF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX II DEFICIENCY 252011
Tags
Green Green List (high evidence)
SEC23B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100
Tags
Green Green List (high evidence)
SEPSECS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 2D
Tags
Green Green List (high evidence)
SETBP1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY
  • SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150
Tags
Green Green List (high evidence)
SETD5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761
Tags
Green Green List (high evidence)
SF3B4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACROFACIAL DYSOSTOSIS 1, NAGER TYPE 154400
Tags
Green Green List (high evidence)
SGSH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3A 252900
Tags
Green Green List (high evidence)
SH3PXD2B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRANK-TER HAAR SYNDROME 249420
Tags
Green Green List (high evidence)
SHH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638
  • TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500
  • SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250
  • HOLOPROSENCEPHALY TYPE 3 236100
Tags
Green Green List (high evidence)
SHOC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 607721
Tags
Green Green List (high evidence)
SHOX
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LERI-WEILL DYSCHONDROSTEOSIS 127300
  • LANGER MESOMELIC DYSPLASIA 249700
Tags
Green Green List (high evidence)
SIK1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEONATAL EPILEPSY SPECTRUM
Tags
Green Green List (high evidence)
SIL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MARINESCO-SJOEGREN SYNDROME 248800
Tags
Green Green List (high evidence)
SIM1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Severe obesity with neurobehavioral features
Tags
  • multifactorial
Green Green List (high evidence)
SIX1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Non-syndromic craniosynostosis
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 23 605192
  • BRANCHIOOTIC SYNDROME TYPE 3 608389
Tags
  • watchlist
Green Green List (high evidence)
SIX3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HOLOPROSENCEPHALY 609637
Tags
Green Green List (high evidence)
SIX5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRANCHIOOTORENAL SYNDROME TYPE 2 610896
Tags
Green Green List (high evidence)
SKI
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
Tags
Green Green List (high evidence)
SKIV2L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TRICHOHEPATOENTERIC SYNDROME 2 615602
Tags
Green Green List (high evidence)
SLC10A7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
Tags
Green Green List (high evidence)
SLC12A6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000
Tags
Green Green List (high evidence)
SLC13A5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE
Tags
Green Green List (high evidence)
SLC16A2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523
Tags
Green Green List (high evidence)
SLC17A5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE SIALIC ACID STORAGE DISORDER 269920
  • SALLA DISEASE 604369
Tags
Green Green List (high evidence)
SLC19A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 607483
Tags
Green Green List (high evidence)
SLC22A5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140
Tags
Green Green List (high evidence)
SLC25A15
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970
Tags
Green Green List (high evidence)
SLC25A20
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138
Tags
Green Green List (high evidence)
SLC25A24
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Gorlin-Chaudhry-Moss syndrome (GCMS)
  • Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Tags
Green Green List (high evidence)
SLC25A26
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY
Tags
Green Green List (high evidence)
SLC25A38
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950
Tags
Green Green List (high evidence)
SLC26A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACHONDROGENESIS TYPE 1B 600972
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900
  • ATELOSTEOGENESIS TYPE 2 256050
  • DIASTROPHIC DYSPLASIA 222600
Tags
Green Green List (high evidence)
SLC27A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ICHTHYOSIS PREMATURITY SYNDROME 608649
Tags
Green Green List (high evidence)
SLC2A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLUT1 DEFICIENCY SYNDROME TYPE 2 612126
  • GLUT1 DEFICIENCY SYNDROME TYPE 1 606777
Tags
Green Green List (high evidence)
SLC2A10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARTERIAL TORTUOSITY SYNDROME 208050
Tags
Green Green List (high evidence)
SLC2A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI-BICKEL SYNDROME 227810
Tags
Green Green List (high evidence)
SLC33A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Tags
Green Green List (high evidence)
SLC35A2
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Epileptic Encephalopathy due to congenital disorder of glycosylation
Tags
Green Green List (high evidence)
SLC35C1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265
Tags
Green Green List (high evidence)
SLC35D1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCHNECKENBECKEN DYSPLASIA 269250
Tags
Green Green List (high evidence)
SLC39A13
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA 612350
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668
Tags
Green Green List (high evidence)
SLC39A8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Intellectual Disability with Cerebellar Atrophy
Tags
Green Green List (high evidence)
SLC46A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HEREDITARY FOLATE MALABSORPTION 229050
Tags
Green Green List (high evidence)
SLC4A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800
  • RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590
Tags
Green Green List (high evidence)
SLC4A11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268
Tags
Green Green List (high evidence)
SLC4A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278
Tags
Green Green List (high evidence)
SLC52A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2
Tags
Green Green List (high evidence)
SLC52A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BROWN-VIALETTO-VAN LAERE SYNDROME 211530
Tags
Green Green List (high evidence)
SLC5A5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • THYROID HORMONOGENESIS DEFECT I 274400
Tags
Green Green List (high evidence)
SLC6A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES
Tags
Green Green List (high evidence)
SLC6A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PARKINSONISM-DYSTONIA, INFANTILE 319029
Tags
Green Green List (high evidence)
SLC6A5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPEREKPLEXIA 149400
Tags
Green Green List (high evidence)
SLC6A8
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • X-LINKED CREATINE DEFICIENCY SYNDROME 300352
Tags
Green Green List (high evidence)
SLC9A6
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243
Tags
Green Green List (high evidence)
SLX4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA COMPLEMENTATION GROUP P 613951
Tags
Green Green List (high evidence)
SMAD3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SMAD3-RELATED LOEYS-DIETZ SYNDROME 319643
Tags
Green Green List (high evidence)
SMAD4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JUVENILE POLYPOSIS SYNDROME 174900
  • MYHRE SYNDROME 139210
  • JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050
Tags
  • watchlist
Green Green List (high evidence)
SMARCA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COFFIN SIRIS 135900
  • NICOLAIDES-BARAITSER SYNDROME 601358
Tags
Green Green List (high evidence)
SMARCA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COFFIN SIRIS 135900
  • RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325
Tags
Green Green List (high evidence)
SMARCAL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900
Tags
Green Green List (high evidence)
SMARCB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHMT1-like SYNDROME
  • RHABDOID PREDISPOSITION SYNDROME 1 609322
Tags
Green Green List (high evidence)
SMC1A
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORNELIA DE LANGE SYNDROME TYPE 2 300590
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
SMC3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORNELIA DE LANGE SYNDROME TYPE 3 610759
Tags
Green Green List (high evidence)
SMCHD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Isolated Arhinia/Bosma Arhinia syndrome
Tags
Green Green List (high evidence)
SMO
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Curry-Jones Syndrome
Tags
  • mosaicism
Green Green List (high evidence)
SMOC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OPHTHALMOACROMELIC SYNDROME 206920
Tags