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Congenital diaphragmatic hernia v1.14 PLS3 Zornitza Stark Phenotypes for gene: PLS3 were changed from congenital diaphragmatic hernia MONDO:0005711, PLS3-related to Diaphragmatic hernia 5, X-linked, MIM# 306950
Congenital diaphragmatic hernia v1.13 PLS3 Zornitza Stark reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 5, X-linked, MIM# 306950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital diaphragmatic hernia v1.13 PLS3 Ain Roesley Marked gene: PLS3 as ready
Congenital diaphragmatic hernia v1.13 PLS3 Ain Roesley Gene: pls3 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.13 PLS3 Ain Roesley Classified gene: PLS3 as Green List (high evidence)
Congenital diaphragmatic hernia v1.13 PLS3 Ain Roesley Gene: pls3 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.12 PLS3 Lauren Rogers changed review comment from: 8 unrelated families with affected males with X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism.
Sources: Literature; to: 8 unrelated families with affected males with an X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism.
Sources: Literature
Congenital diaphragmatic hernia v1.12 PLS3 Lauren Rogers gene: PLS3 was added
gene: PLS3 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLS3 were set to 37751738
Phenotypes for gene: PLS3 were set to congenital diaphragmatic hernia MONDO:0005711, PLS3-related
Review for gene: PLS3 was set to GREEN
Added comment: 8 unrelated families with affected males with X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism.
Sources: Literature
Congenital diaphragmatic hernia v1.12 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Congenital diaphragmatic hernia v1.11 Zornitza Stark List of related panels changed from to Congenital diaphragmatic hernia HP:0000776
Congenital diaphragmatic hernia v1.10 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Congenital diaphragmatic hernia v1.10 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.10 SETD5 Zornitza Stark Classified gene: SETD5 as Green List (high evidence)
Congenital diaphragmatic hernia v1.10 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.9 SETD5 Elena Savva gene: SETD5 was added
gene: SETD5 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SETD5 were set to PMID: 28263952; 24680889
Phenotypes for gene: SETD5 were set to Intellectual developmental disorder, autosomal dominant 23 MIM#615761
Review for gene: SETD5 was set to GREEN
Added comment: Internal VCGS patient with a de novo PTC, p.Lys766Glufs*35, and features including diaphragmatic hernia and ID.

PMID: 28263952 - describes an additional patient with a PTC, with diaphragmatic hernia and severe cerebral cortical dysplasia

PMID: 24680889 - 2 reported children with PTCs had inguinal hernia, 1 had paraumbilical hernia
Sources: Literature
Congenital diaphragmatic hernia v1.8 WNT7B Zornitza Stark Marked gene: WNT7B as ready
Congenital diaphragmatic hernia v1.8 WNT7B Zornitza Stark Gene: wnt7b has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.8 WNT7B Zornitza Stark Classified gene: WNT7B as Green List (high evidence)
Congenital diaphragmatic hernia v1.8 WNT7B Zornitza Stark Gene: wnt7b has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.7 WNT7B Zornitza Stark gene: WNT7B was added
gene: WNT7B was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7B were set to 35790350
Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related
Review for gene: WNT7B was set to GREEN
Added comment: Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model.
Sources: Literature
Congenital diaphragmatic hernia v1.6 EFNB1 Bryony Thompson Added comment: Comment on mode of inheritance: X-LINKED: heterozygous females demonstrate more severe disease than hemizygous males
Congenital diaphragmatic hernia v1.6 EFNB1 Bryony Thompson Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Congenital diaphragmatic hernia v1.5 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Congenital diaphragmatic hernia v1.5 PBX1 Zornitza Stark Gene: pbx1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.5 PBX1 Zornitza Stark Classified gene: PBX1 as Green List (high evidence)
Congenital diaphragmatic hernia v1.5 PBX1 Zornitza Stark Gene: pbx1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.4 PBX1 Zornitza Stark gene: PBX1 was added
gene: PBX1 was added to Congenital diaphragmatic hernia. Sources: Expert Review
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PBX1 were set to 28566479; 29036646; 29966037
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641
Review for gene: PBX1 was set to GREEN
Added comment: CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most individuals have global developmental delay. More than 10 unrelated families reported.

CDH reported in several.
Sources: Expert Review
Congenital diaphragmatic hernia v1.3 LONP1 Seb Lunke Marked gene: LONP1 as ready
Congenital diaphragmatic hernia v1.3 LONP1 Seb Lunke Gene: lonp1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v1.3 LONP1 Seb Lunke gene: LONP1 was added
gene: LONP1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: LONP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LONP1 were set to 34547244
Phenotypes for gene: LONP1 were set to Congenital diaphragmatic hernia
Penetrance for gene: LONP1 were set to Incomplete
Review for gene: LONP1 was set to RED
Added comment: LONP1 described as potential new risk factor for CDH. Putative disruptive variants are enriched by approx a factor 10 fold, but remain rare (up to 3% of studied CDH cohort). Segregation studies in 5 families showed incomplete penetrance, at ~50%. A mouse model with lung specific know-out had impaired lung development, but het mice unaffected.
Sources: Literature
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Marked gene: FREM1 as ready
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Gene: frem1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Classified gene: FREM1 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Gene: frem1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v1.1 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FREM1 were set to 32016392
Phenotypes for gene: FREM1 were set to Congenital diaphragmatic hernia
Review for gene: FREM1 was set to AMBER
Added comment: Single individual reported with compound het variants in this gene, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes.
Sources: Literature
Congenital diaphragmatic hernia v1.0 Zornitza Stark promoted panel to version 1.0
Congenital diaphragmatic hernia v0.96 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital diaphragmatic hernia v0.95 ALG12 Zornitza Stark Classified gene: ALG12 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.95 ALG12 Zornitza Stark Gene: alg12 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.94 ALG12 Zornitza Stark changed review comment from: Single individual reported with CDH.
Sources: Literature; to: Two individuals reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.94 ALG12 Zornitza Stark edited their review of gene: ALG12: Changed rating: AMBER; Changed phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143
Congenital diaphragmatic hernia v0.94 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Congenital diaphragmatic hernia v0.94 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.94 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA4 were set to 33461977
Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM# 614609
Review for gene: SMARCA4 was set to RED
Added comment: Single individual reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.93 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Congenital diaphragmatic hernia v0.93 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.93 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 33461977
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1, MIM# 608354
Review for gene: RASA1 was set to RED
Added comment: Single individual reported as part of a cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.92 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Congenital diaphragmatic hernia v0.92 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.92 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PDHA1 were set to 33461977
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
Review for gene: PDHA1 was set to RED
Added comment: Single individual reported as part of a cohort. Note variants in this gene can cause congenital anomalies.
Sources: Literature
Congenital diaphragmatic hernia v0.91 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Congenital diaphragmatic hernia v0.91 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.91 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCPH1 were set to 33461977
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, MIM# 251200
Review for gene: MCPH1 was set to RED
Added comment: Single individual reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.90 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Congenital diaphragmatic hernia v0.90 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.90 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP1 were set to 33461977
Phenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Review for gene: FOXP1 was set to RED
Added comment: Single individual reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.89 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Congenital diaphragmatic hernia v0.89 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.89 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 33461977; 27663689
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, MIM# 153400
Review for gene: FOXC2 was set to RED
Added comment: Single individual reported with CDH, some supportive functional data.
Sources: Literature
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Classified gene: FBN1 as Green List (high evidence)
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.87 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 31829751; 33461977
Phenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700
Review for gene: FBN1 was set to GREEN
Added comment: CDH is a rare feature of FBN1-associated disease.
Sources: Literature
Congenital diaphragmatic hernia v0.86 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Congenital diaphragmatic hernia v0.86 BRCA2 Zornitza Stark Gene: brca2 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.86 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, MIM# 605724
Review for gene: BRCA2 was set to RED
Added comment: Single affected individual reported, although FA is a multiple congenital anomaly syndrome.
Sources: Literature
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark edited their review of gene: ANKRD11: Changed rating: RED; Changed phenotypes: KBG syndrome, MIM# 148050
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 33461977
Phenotypes for gene: ANKRD11 were set to KBG syndrome, MIM# 148050
Review for gene: ANKRD11 was set to GREEN
Added comment: Single individual reported.
Sources: Literature
Congenital diaphragmatic hernia v0.84 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Congenital diaphragmatic hernia v0.84 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.84 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG12 were set to 33461977
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, MIM# 607143
Review for gene: ALG12 was set to RED
Added comment: Single individual reported with CDH.
Sources: Literature
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Classified gene: ABL1 as Green List (high evidence)
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.82 ABL1 Zornitza Stark gene: ABL1 was added
gene: ABL1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABL1 were set to 33461977; 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, MIM# 617602
Review for gene: ABL1 was set to GREEN
Added comment: Congenital diaphragmatic hernia reported in at least 3 individuals.
Sources: Literature
Congenital diaphragmatic hernia v0.81 SLIT3 Zornitza Stark Marked gene: SLIT3 as ready
Congenital diaphragmatic hernia v0.81 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.81 SLIT3 Zornitza Stark Classified gene: SLIT3 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.81 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.80 SLIT3 Zornitza Stark gene: SLIT3 was added
gene: SLIT3 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIT3 were set to 33933663
Phenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia
Review for gene: SLIT3 was set to AMBER
Added comment: Two affected individuals, single family, supportive mouse model.
Sources: Literature
Congenital diaphragmatic hernia v0.79 WT1 Zornitza Stark Marked gene: WT1 as ready
Congenital diaphragmatic hernia v0.79 WT1 Zornitza Stark Gene: wt1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.79 WT1 Zornitza Stark Phenotypes for gene: WT1 were changed from to Denys-Drash syndrome, MIM# 194080
Congenital diaphragmatic hernia v0.78 WT1 Zornitza Stark Mode of inheritance for gene: WT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.77 WT1 Zornitza Stark reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Denys-Drash syndrome, MIM# 194080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.77 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Congenital diaphragmatic hernia v0.77 SMC3 Zornitza Stark Gene: smc3 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.77 SMC3 Zornitza Stark Phenotypes for gene: SMC3 were changed from to Cornelia de Lange syndrome 3, MIM# 610759
Congenital diaphragmatic hernia v0.76 SMC3 Zornitza Stark Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.75 SMC3 Zornitza Stark Classified gene: SMC3 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.75 SMC3 Zornitza Stark Gene: smc3 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.74 SMC3 Zornitza Stark reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 3, MIM# 610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.74 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Congenital diaphragmatic hernia v0.74 SMC1A Zornitza Stark Gene: smc1a has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.74 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2, MIM# 300590
Congenital diaphragmatic hernia v0.73 SMC1A Zornitza Stark Mode of inheritance for gene: SMC1A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.72 SMC1A Zornitza Stark Classified gene: SMC1A as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.72 SMC1A Zornitza Stark Gene: smc1a has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.71 SMC1A Zornitza Stark reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 2, MIM# 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.71 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Congenital diaphragmatic hernia v0.71 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.71 RAD21 Zornitza Stark Phenotypes for gene: RAD21 were changed from to Cornelia de Lange syndrome 4, MIM# 614701
Congenital diaphragmatic hernia v0.70 RAD21 Zornitza Stark Publications for gene: RAD21 were set to
Congenital diaphragmatic hernia v0.69 RAD21 Zornitza Stark Mode of inheritance for gene: RAD21 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.68 RAD21 Zornitza Stark reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 30125677; Phenotypes: Cornelia de Lange syndrome 4, MIM# 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.68 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Congenital diaphragmatic hernia v0.68 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.68 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Congenital diaphragmatic hernia v0.67 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Congenital diaphragmatic hernia v0.66 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital diaphragmatic hernia v0.65 OFD1 Zornitza Stark Classified gene: OFD1 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.65 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.64 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16783569, 27589329; Phenotypes: Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: None
Congenital diaphragmatic hernia v0.64 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Congenital diaphragmatic hernia v0.64 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.64 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1, MIM# 117550
Congenital diaphragmatic hernia v0.63 NSD1 Zornitza Stark Publications for gene: NSD1 were set to
Congenital diaphragmatic hernia v0.62 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.61 NSD1 Zornitza Stark Classified gene: NSD1 as Red List (low evidence)
Congenital diaphragmatic hernia v0.61 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.60 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: 29966037; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.60 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Congenital diaphragmatic hernia v0.60 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.60 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from to Cornelia de Lange syndrome 1, MIM# 122470
Congenital diaphragmatic hernia v0.59 NIPBL Zornitza Stark Mode of inheritance for gene: NIPBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.58 NIPBL Zornitza Stark reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1, MIM# 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.58 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Congenital diaphragmatic hernia v0.58 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.58 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from to Donnai-Barrow syndrome, MIM# 222448
Congenital diaphragmatic hernia v0.57 LRP2 Zornitza Stark Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.56 LRP2 Zornitza Stark reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome, MIM# 222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.56 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Congenital diaphragmatic hernia v0.56 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark changed review comment from: Rare reports of CDH in Kabuki syndrome, not a characteristic or common feature.; to: Rare reports of CDH in Kabuki syndrome, not a characteristic or common feature; however, 4 identified in this CDH cohort.
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark edited their review of gene: KMT2D: Changed rating: GREEN
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.55 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM# 147920
Congenital diaphragmatic hernia v0.54 KMT2D Zornitza Stark Publications for gene: KMT2D were set to
Congenital diaphragmatic hernia v0.53 KMT2D Zornitza Stark Mode of inheritance for gene: KMT2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.52 KMT2D Zornitza Stark Classified gene: KMT2D as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.52 KMT2D Zornitza Stark Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.51 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: None; Publications: 33461977; Phenotypes: Kabuki syndrome 1, MIM# 147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.51 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Congenital diaphragmatic hernia v0.51 KDM6A Zornitza Stark Gene: kdm6a has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.51 KDM6A Zornitza Stark Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2, MIM# 300867
Congenital diaphragmatic hernia v0.50 KDM6A Zornitza Stark Mode of inheritance for gene: KDM6A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.49 KDM6A Zornitza Stark Classified gene: KDM6A as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.49 KDM6A Zornitza Stark Gene: kdm6a has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.48 KDM6A Zornitza Stark reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 2, MIM# 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.48 HCCS Zornitza Stark Marked gene: HCCS as ready
Congenital diaphragmatic hernia v0.48 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.48 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Congenital diaphragmatic hernia v0.47 HCCS Zornitza Stark Mode of inheritance for gene: HCCS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.46 HCCS Zornitza Stark reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.46 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Congenital diaphragmatic hernia v0.46 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.46 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Congenital diaphragmatic hernia v0.45 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital diaphragmatic hernia v0.44 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital diaphragmatic hernia v0.44 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Congenital diaphragmatic hernia v0.44 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.44 EFNB1 Zornitza Stark Phenotypes for gene: EFNB1 were changed from to Craniofrontonasal dysplasia, MIM# 304110; Diaphragmatic hernia
Congenital diaphragmatic hernia v0.43 EFNB1 Zornitza Stark Publications for gene: EFNB1 were set to
Congenital diaphragmatic hernia v0.42 EFNB1 Zornitza Stark Mode of inheritance for gene: EFNB1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.41 EFNB1 Zornitza Stark reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32022998, 30469162, 21782985, 21064195, 20734337, 30469162; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110, Diaphragmatic hernia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.41 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Congenital diaphragmatic hernia v0.41 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.41 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Congenital diaphragmatic hernia v0.40 DLL3 Zornitza Stark Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.39 DLL3 Zornitza Stark Classified gene: DLL3 as Red List (low evidence)
Congenital diaphragmatic hernia v0.39 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.38 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.38 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Congenital diaphragmatic hernia v0.38 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.38 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800
Congenital diaphragmatic hernia v0.37 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Congenital diaphragmatic hernia v0.36 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.35 CHD7 Zornitza Stark Classified gene: CHD7 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.35 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.34 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: None; Publications: 17576576, 24185968; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital diaphragmatic hernia v0.34 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Congenital diaphragmatic hernia v0.34 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.34 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to Beckwith-Wiedemann syndrome, MIM# 130650
Congenital diaphragmatic hernia v0.33 CDKN1C Zornitza Stark Classified gene: CDKN1C as Red List (low evidence)
Congenital diaphragmatic hernia v0.33 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.32 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: None
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark Tag SV/CNV tag was added to gene: PIGN.
Tag founder tag was added to gene: PIGN.
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like.
Congenital diaphragmatic hernia v0.32 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Congenital diaphragmatic hernia v0.32 TRRAP Zornitza Stark Gene: trrap has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.32 TRRAP Zornitza Stark gene: TRRAP was added
gene: TRRAP was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism, MIM# 618454
Review for gene: TRRAP was set to RED
Added comment: Developmental delay with or without dysmorphic facies and autism (DEDDFA) is a complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Some patients may be severely affected with no speech and inability to walk, whereas others may be able to attend special schools or have normal intellectual function associated with autism spectrum disorder and mild speech delay. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups. Patients with TRRAP mutations affecting residues 1031-1159 have a more severe disorder, often with multisystem involvement, including renal, cardiac, and genitourinary systems, as well as structural brain abnormalities. Patients with mutations outside of that region tend to have a less severe phenotype with a higher incidence of autism and usually no systemic involvement. Patients in both groups usually have somewhat similar dysmorphic facial features, such as upslanting palpebral fissures, hypertelorism, low-set ears, and broad or depressed nasal bridge, although these features are highly variable.

One of 13 individuals had CDH in PMID 30827496.
Sources: Expert list
Congenital diaphragmatic hernia v0.31 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Congenital diaphragmatic hernia v0.31 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.31 EFEMP2 Zornitza Stark Classified gene: EFEMP2 as Green List (high evidence)
Congenital diaphragmatic hernia v0.31 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.30 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 30140196; 21563328
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, MIM# 614437
Review for gene: EFEMP2 was set to GREEN
Added comment: Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels.

Diaphragmatic hypoplasia and hernia are features in 25-90%.
Sources: Expert list
Congenital diaphragmatic hernia v0.29 PORCN Zornitza Stark Marked gene: PORCN as ready
Congenital diaphragmatic hernia v0.29 PORCN Zornitza Stark Added comment: Comment when marking as ready: XLD.
Congenital diaphragmatic hernia v0.29 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.29 PORCN Zornitza Stark Phenotypes for gene: PORCN were changed from to Focal dermal hypoplasia, MIM# 305600
Congenital diaphragmatic hernia v0.28 PORCN Zornitza Stark Publications for gene: PORCN were set to
Congenital diaphragmatic hernia v0.27 PORCN Zornitza Stark Mode of inheritance for gene: PORCN was changed from Unknown to Other
Congenital diaphragmatic hernia v0.26 PORCN Zornitza Stark reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25026905; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: Other
Congenital diaphragmatic hernia v0.26 MYRF Zornitza Stark Marked gene: MYRF as ready
Congenital diaphragmatic hernia v0.26 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.26 MYRF Zornitza Stark Classified gene: MYRF as Green List (high evidence)
Congenital diaphragmatic hernia v0.26 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.25 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to 29446546; 29446546; 30532227; 31069960
Phenotypes for gene: MYRF were set to Cardiac-urogenital syndrome, MIM# 618280
Review for gene: MYRF was set to GREEN
Added comment: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.

More than 10 unrelated individuals reported.
Sources: Expert list
Congenital diaphragmatic hernia v0.24 NR2F2 Zornitza Stark Marked gene: NR2F2 as ready
Congenital diaphragmatic hernia v0.24 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.24 NR2F2 Zornitza Stark Classified gene: NR2F2 as Green List (high evidence)
Congenital diaphragmatic hernia v0.24 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.23 NR2F2 Zornitza Stark gene: NR2F2 was added
gene: NR2F2 was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR2F2 were set to 29570242; 29966037; 27363585
Phenotypes for gene: NR2F2 were set to Congenital heart defects, multiple types, 4, MIM# 615779
Review for gene: NR2F2 was set to GREEN
Added comment: The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported. Some exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastro-oesophageal reflux.

CDH reported in more than 3 unrelated individuals.
Sources: Expert list
Congenital diaphragmatic hernia v0.22 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Congenital diaphragmatic hernia v0.22 GATA6 Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.22 GATA6 Zornitza Stark Classified gene: GATA6 as Green List (high evidence)
Congenital diaphragmatic hernia v0.22 GATA6 Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.21 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA6 were set to 31301121
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, MIM# 600001
Review for gene: GATA6 was set to GREEN
Added comment: Recent review of 78 published cases: most common phenotypes were structural cardiac and pancreatic abnormalities, with a penetrance of 87 and 60%, respectively. Other common malformations were gallbladder agenesis, congenital diaphragmatic hernia, and neurocognitive abnormalities, mostly developmental delay. Approximately half were inherited, variable expressivity.
Sources: Expert list
Congenital diaphragmatic hernia v0.20 RLIM Zornitza Stark Marked gene: RLIM as ready
Congenital diaphragmatic hernia v0.20 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.20 RLIM Zornitza Stark Classified gene: RLIM as Green List (high evidence)
Congenital diaphragmatic hernia v0.20 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.19 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RLIM were set to 29728705; 25735484; 25644381
Phenotypes for gene: RLIM were set to Tonne-Kalscheuer syndrome, MIM# 300978
Review for gene: RLIM was set to GREEN
Added comment: Eight unrelated families and a zebrafish model.

Most individuals exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioural abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities
Sources: Expert list
Congenital diaphragmatic hernia v0.18 RARB Zornitza Stark Marked gene: RARB as ready
Congenital diaphragmatic hernia v0.18 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.18 RARB Zornitza Stark Classified gene: RARB as Green List (high evidence)
Congenital diaphragmatic hernia v0.18 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.17 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RARB were set to 24075189; 22686418
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, MIM# 615524
Review for gene: RARB was set to GREEN
Added comment: Both mono allelic and bi-allelic variants associated with bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia.
Sources: Expert list
Congenital diaphragmatic hernia v0.16 ZFPM2 Zornitza Stark Marked gene: ZFPM2 as ready
Congenital diaphragmatic hernia v0.16 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.16 ZFPM2 Zornitza Stark Classified gene: ZFPM2 as Green List (high evidence)
Congenital diaphragmatic hernia v0.16 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.15 ZFPM2 Zornitza Stark gene: ZFPM2 was added
gene: ZFPM2 was added to Congenital diaphragmatic hernia. Sources: Expert list
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFPM2 were set to 16103912; 17568391; 24702427
Phenotypes for gene: ZFPM2 were set to Diaphragmatic hernia 3, MIM# 610187
Review for gene: ZFPM2 was set to GREEN
Added comment: More than 5 unrelated families reported with variants in this gene and CDH. Note variants in this gene are also linked to CHD and sex reversal.
Sources: Expert list
Congenital diaphragmatic hernia v0.14 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Congenital diaphragmatic hernia v0.14 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.14 STRA6 Zornitza Stark Phenotypes for gene: STRA6 were changed from to Microphthalmia, syndromic 9, MIM# 601186
Congenital diaphragmatic hernia v0.13 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Congenital diaphragmatic hernia v0.12 STRA6 Zornitza Stark Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.11 STRA6 Zornitza Stark reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373900, 22686418]; Phenotypes: Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark edited their review of gene: FOXP4: Changed rating: AMBER
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark Marked gene: FOXP4 as ready
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark Classified gene: FOXP4 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.11 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.10 FOXP4 Zornitza Stark gene: FOXP4 was added
gene: FOXP4 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities
Review for gene: FOXP4 was set to GREEN
Added comment: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays.
Sources: Literature
Congenital diaphragmatic hernia v0.9 SPECC1L Zornitza Stark Marked gene: SPECC1L as ready
Congenital diaphragmatic hernia v0.9 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.9 SPECC1L Zornitza Stark Classified gene: SPECC1L as Green List (high evidence)
Congenital diaphragmatic hernia v0.9 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.8 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPECC1L were set to 32954677
Phenotypes for gene: SPECC1L were set to Opitz GBBB syndrome, type II, MIM# 145410
Review for gene: SPECC1L was set to GREEN
Added comment: 5 individuals with CDH and AD Opitz GBBB syndrome caused by SPECC1L variants reported.
Sources: Literature
Congenital diaphragmatic hernia v0.7 PIGN Zornitza Stark Marked gene: PIGN as ready
Congenital diaphragmatic hernia v0.7 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.7 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 1 to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080
Congenital diaphragmatic hernia v0.6 PIGN Zornitza Stark Classified gene: PIGN as Green List (high evidence)
Congenital diaphragmatic hernia v0.6 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.5 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.5 PIGN Andrew Fennell gene: PIGN was added
gene: PIGN was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGN were set to PMID: 27038415; 24852103
Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1
Penetrance for gene: PIGN were set to Complete
Review for gene: PIGN was set to GREEN
Added comment: Sources: Literature
Congenital diaphragmatic hernia v0.5 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Congenital diaphragmatic hernia v0.5 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.5 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882
Congenital diaphragmatic hernia v0.4 HDAC8 Zornitza Stark Publications for gene: HDAC8 were set to
Congenital diaphragmatic hernia v0.3 HDAC8 Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.2 HDAC8 Zornitza Stark Classified gene: HDAC8 as Red List (low evidence)
Congenital diaphragmatic hernia v0.2 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.1 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: RED; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.1 Zornitza Stark Panel name changed from Congenital diaphragmatic hernia, CDH_VCGS to Congenital diaphragmatic hernia
Panel types changed to Victorian Clinical Genetics Services
Congenital diaphragmatic hernia v0.0 WT1 Zornitza Stark gene: WT1 was added
gene: WT1 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WT1 was set to Unknown
Congenital diaphragmatic hernia v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STRA6 was set to Unknown
Congenital diaphragmatic hernia v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMC3 was set to Unknown
Congenital diaphragmatic hernia v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMC1A was set to Unknown
Congenital diaphragmatic hernia v0.0 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD21 was set to Unknown
Congenital diaphragmatic hernia v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PORCN was set to Unknown
Congenital diaphragmatic hernia v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown
Congenital diaphragmatic hernia v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NSD1 was set to Unknown
Congenital diaphragmatic hernia v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NIPBL was set to Unknown
Congenital diaphragmatic hernia v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRP2 was set to Unknown
Congenital diaphragmatic hernia v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2D was set to Unknown
Congenital diaphragmatic hernia v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KDM6A was set to Unknown
Congenital diaphragmatic hernia v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HDAC8 was set to Unknown
Congenital diaphragmatic hernia v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCCS was set to Unknown
Congenital diaphragmatic hernia v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPC3 was set to Unknown
Congenital diaphragmatic hernia v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFNB1 was set to Unknown
Congenital diaphragmatic hernia v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DLL3 was set to Unknown
Congenital diaphragmatic hernia v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD7 was set to Unknown
Congenital diaphragmatic hernia v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN1C was set to Unknown
Congenital diaphragmatic hernia v0.0 Zornitza Stark Added panel Congenital diaphragmatic hernia, CDH_VCGS