Congenital diaphragmatic hernia (Version 1.16)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 49 Entitiess
Green List (high evidence)	ABL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital heart defects and skeletal malformations syndrome, MIM# 617602 Tags
Green List (high evidence)	EFEMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IB, MIM# 614437 Tags
Green List (high evidence)	EFNB1	2 reviews 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniofrontonasal dysplasia, MIM# 304110 Diaphragmatic hernia Tags
Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Marfan syndrome, MIM# 154700 Tags
Green List (high evidence)	GATA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Pancreatic agenesis and congenital heart defects, MIM# 600001 Tags
Green List (high evidence)	GPC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 Tags
Green List (high evidence)	HCCS	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Tags
Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 1, MIM# 147920 Tags
Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Donnai-Barrow syndrome, MIM# 222448 Tags
Green List (high evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes MED12-related disorders Hardikar syndrome, OMIM # 301068 Tags
Green List (high evidence)	MYRF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cardiac-urogenital syndrome, MIM# 618280 Tags
Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 1, MIM# 122470 Tags
Green List (high evidence)	NR2F2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Congenital heart defects, multiple types, 4, MIM# 615779 Tags
Green List (high evidence)	PBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641 Tags
Green List (high evidence)	PIGN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 Tags founder SV/CNV
Green List (high evidence)	PLS3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Diaphragmatic hernia 5, X-linked, MIM# 306950 Tags
Green List (high evidence)	PORCN	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Focal dermal hypoplasia, MIM# 305600 Tags
Green List (high evidence)	RAD21	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 4, MIM# 614701 Tags
Green List (high evidence)	RARB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microphthalmia, syndromic 12, MIM# 615524 Tags
Green List (high evidence)	RLIM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Tonne-Kalscheuer syndrome, MIM# 300978 Tags
Green List (high evidence)	SETD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 23 MIM#615761 Tags
Green List (high evidence)	SPECC1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Opitz GBBB syndrome, type II, MIM# 145410 Tags
Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 9, MIM# 601186 Tags
Green List (high evidence)	WNT7B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related Tags
Green List (high evidence)	WT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Denys-Drash syndrome, MIM# 194080 Tags
Green List (high evidence)	ZFPM2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Diaphragmatic hernia 3, MIM# 610187 Tags
Amber List (moderate evidence)	ALG12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type Ig, MIM# 607143 Tags
Amber List (moderate evidence)	CHD7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CHARGE syndrome, MIM# 214800 Tags
Amber List (moderate evidence)	FOXP4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder multiple congenital abnormalities Tags
Amber List (moderate evidence)	FREM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital diaphragmatic hernia Tags
Amber List (moderate 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 Expert Review Amber Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 2, MIM# 300867 Tags
Amber List (moderate evidence)	OFD1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209 Tags
Amber List (moderate evidence)	SLIT3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital diaphragmatic hernia Tags
Amber List (moderate 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 Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2, MIM# 300590 Tags
Amber List (moderate evidence)	SMC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 3, MIM# 610759 Tags
Red List (low evidence)	ANKRD11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes KBG syndrome, MIM# 148050 Tags
Red List (low evidence)	BRCA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Fanconi anemia, complementation group D1, MIM# 605724 Tags
Red List (low evidence)	CDKN1C	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Beckwith-Wiedemann syndrome, MIM# 130650 Tags
Red List (low evidence)	DLL3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 Tags
Red List (low evidence)	FOXC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Lymphedema-distichiasis syndrome, MIM# 153400 Tags
Red List (low evidence)	FOXP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Mental retardation with language impairment and with or without autistic features, MIM# 613670 Tags
Red List (low evidence)	HDAC8	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 5, MIM# 300882 Tags
Red List (low evidence)	LONP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Congenital diaphragmatic hernia Tags
Red List (low evidence)	MCPH1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 Tags
Red List (low evidence)	NSD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1, MIM# 117550 Tags
Red List (low evidence)	PDHA1	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 Tags
Red List (low evidence)	RASA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Capillary malformation-arteriovenous malformation 1, MIM# 608354 Tags
Red List (low evidence)	SMARCA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Coffin-Siris syndrome 4, MIM# 614609 Tags
Red List (low evidence)	TRRAP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Developmental delay with or without dysmorphic facies and autism, MIM# 618454 Tags

Congenital diaphragmatic hernia (Version 1.16)

7 reviewers

49 Entities

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