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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

                                             

                                             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

Unique

GeneReviews

ARID1B

Coffin-Siris syndrome

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

 

 

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

CREBBP

Rubinstein-Taybi syndrome due to CREBBP mutations

NORD

GeneReviews

CTNNB1

Severe intellectual disability-progressive spastic diplegia syndrome

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

 

 

 

Juberg-Marsidi syndrome

NORD

 

ITPR1

Spinocerebellar ataxia type 29

 

 

 

Spinocerebellar ataxia type 15 (SCA15)

 

GeneReviews

 

Gillespie syndrome

MedlinePlusGARD

 

KAT6A

Mental retardation, autosomal dominant 32

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

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

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

 

 

 

Pitt-Hopkins syndrome

NORD, GARD

GeneReviews

TCF20

Intellectual disability with postnatal overgrowth