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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

ACKNOWLEDGEMENTS

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	Centre for Genetics Education Unique	GeneReviews
ARID1B	Coffin-Siris syndrome	Centre for Genetics Education 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	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	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
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	MedlinePlus, GARD
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	MedlinePlus, GARD	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	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	Centre for Genetics Education
	Pitt-Hopkins syndrome	NORD, GARD	GeneReviews
TCF20	Intellectual disability with postnatal overgrowth