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Home Health Professionals Genomic Testing Consent Resources The most common genetic diagnoses identified by genomic sequencing

The most common genetic diagnoses identified by genomic sequencing

Abbreviations 
NORD:  National Organization for Rare Disorders
GARD:  Genetic and Rare Diseases Information Centre

         

 ACKNOWLEDGEMENTS                                  

                                             ALPHABETICAL LISTING

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Gene  

Associated condition(s)

General resources 

Detailed information 

ACTB

Baraitser-Winter syndrome

Unique

GeneReviews

ADNP

ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder

Unique, ADNP Foundation

GeneReviews

AHDC1

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome / Xia-Gibbs syndrome

MedlinePlus

 

ANKRD11

KBG syndrome

Centre for Genetics Education

Unique

GeneReviews

ARID1B

Coffin-Siris syndrome

Centre for Genetics Education

MedlinePlusNORD

GeneReviews

 

ARID1B syndrome/ARID1B-related disorder

Unique

GeneReviews

ARX

Early infantile epileptic encephalopathy 1

 

 

 

Partington syndrome

MedlinePlus 

 

 

X-linked lissencephaly with abnormal genitalia

 

 

AUTS2

Autism spectrum disorder due to AUTS2 deficiency

Centre for Genetics Education 

 

ATRX

Alpha-thalassemia - X-linked intellectual disability syndrome /  Mental retardation hypotonic face syndrome (XL)

Unique

GeneReviews

CASK

X-linked intellectual disability, Najm type

MedlinePlusGARD

GeneReviews

 

Early infantile epileptic encephalopathy

MedlinePlusGARD

GeneReviews

CDK13

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

 

GeneReviews

CHD2

Lennox-Gastaut syndrome / CH2 myoclonic encephalopathy

MedlinePlus

GeneReviews

CHD7

CHARGE syndrome

CHARGE Syndrome Foundation MedlinePlusNORD

GeneReviews

CLCN4

 

Centre for Genetics Education

 

CREBBP

Rubinstein-Taybi syndrome due to CREBBP mutations

NORD

GeneReviews

CTNNB1

Severe intellectual disability-progressive spastic diplegia syndrome

Centre for Genetics Education

Unique

 

DDX3X

X-linked intellectual disability-hypotonia-movement disorder syndrome

Unique, DDX3X Foundation

GeneReviews

DYNC1H1

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

GARD, MedlinePlus

 

DYRK1A

Autosomal dominant non-syndromic intellectual disability

DYRK1A Association, Unique

GeneReviews

EHMT1

Kleefstra syndrome due to 9q34 microdeletion / Kleefstra syndrome due to a point mutation

Unique

GeneReviews

EP300

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

NORD

GeneReviews

ERCC6

Cockayne syndrome type 1 (COFS syndrome)

NORD, GARD

GeneReviews

FOXP1

Intellectual disability-severe speech delay-mild dysmorphism syndrome

GARD

 

 

GRIN2B

Autosomal dominant non-syndromic intellectual disability

Unique

GeneReviews

HUWE1

X-linked intellectual disability, Turner type

Centre for Genetics Education 

 

 

Juberg-Marsidi syndrome

NORD

 

ITPR1

Spinocerebellar ataxia type 29

Centre for Genetics Education 

 

 

Spinocerebellar ataxia type 15 (SCA15)

 

GeneReviews

 

Gillespie syndrome

MedlinePlusGARD

 

KAT6A

Mental retardation, autosomal dominant 32

Centre for Genetics Education

Unique, NORD

 

KAT6B

Blepharophimosis-intellectual disability syndrome, SBBYS type / Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

MedlinePlusGARD

GeneReviews

 

Genitopatellar syndrome

MedlinePlus

GeneReviews

KCNQ2

Early infantile epileptic encephalopathy

NORD, KCNQ2Cure

GeneReviews

KIF1A

Autosomal dominant non-syndromic intellectual disability

Centre for Genetics Education

Unique, NORD

 

KMT2A

Wiedemann-Steiner syndrome

 GARD

 

KMT2D

Kabuki syndrome

Better Health Channel, MedlinePlus, NORD

GeneReviews

MECP2

MECP2-related severe neonatal encephalopathy

MedlinePlus

GeneReviews

 

Rett syndrome

Rettsydnrome.org

MedlinePlus

GeneReviews

MED12

X-linked non-syndromic intellectual disability

Unique

GeneReviews

 

X-linked intellectual disability with marfanoid habitus

Unique

GeneReviews

 

Blepharophimosis-intellectual disability syndrome, MKB type

Unique

GeneReviews

MED13L

MED13L syndrome

MedlinePlus

 

NALCN

Hypotonia-speech impairment-severe cognitive delay syndrome

 

 

NF1

Neurofibromatosis type 1 due to NF1mutation or intragenic deletion

Better Health Channel Victoria, MedlinePlus, NORD

GeneReviews

NSD1

Sotos syndrome

Sotos Syndrome Australia, NORD

GeneReviews

POGZ

White-Sutton syndrome

Centre for Genetics Education

White Sutton Syndrome Foundation

 

PPP2R5D

Intellectual disability-macrocephaly-hypotonia-behavioural abnormalities syndrome

MedlinePlus

GeneReviews

PURA

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Unique

GeneReviews

PTPN11

LEOPARD syndrome (Noonan syndrome with multiple lentigines)

NORD

GeneReviews

 

Noonan syndrome

NORD, Mayo Clinic, MedlinePlus

GeneReviews

SATB2

Glass syndrome / SATB2-associated syndrome

UniqueSATB2-associated syndrome foundation

GeneReviews 

SCN2A

SCN2A-related conditions

Unique

Human Disease Genes

 

Early infantile epileptic encephalopathy

 

 

 

West syndrome

NORD

 

 

Dravet syndrome

Epilepsy Foundation, NORD

 

SCN8A

Early infantile epileptic encephalopathy

SCN8A Epilepsy, MedlinePlus

GeneReviews

SETD5

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Unique

 

SLC6A1

Myoclonic-astastic epilepsy

NORD, SLC6A1Connect

 

SMC1A

Cornelia de Lange syndrome

CdLS Foundation, NORD, MedlinePlus

GeneReviews

SRCAP

Floating-Harbor syndrome

Unique, NORD

GeneReviews

STXBP1

Early infantile epileptic encephalopathy

Unique

GeneReviews

 

Dravet syndrome

Epilepsy Foundation, NORD

 

SYNGAP1

Autosomal dominant non-syndromic intellectual disability

Unique, Bridge the Gap - SYNGAP Foundation

NORD, GeneReviews

TCF4

Autosomal dominant non-syndromic intellectual disability

Centre for Genetics Education 

 

 

Pitt-Hopkins syndrome

NORD, GARD

GeneReviews

TCF20

Intellectual disability with postnatal overgrowth