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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

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S |T | U | V | W | X | Y | Z

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	MedlinePlus, NORD	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	MedlinePlus, GARD	GeneReviews
	Early infantile epileptic encephalopathy	MedlinePlus, GARD	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 MedlinePlus, NORD	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	MedlinePlus, GARD
KAT6A	Mental retardation, autosomal dominant 32	Unique, NORD
KAT6B	Blepharophimosis-intellectual disability syndrome, SBBYS type / Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	MedlinePlus, GARD	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	Unique , SATB2-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