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Mendeliome v2.252 GIGYF2 Zornitza Stark reviewed gene: GIGYF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 42297935; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, GIGYF2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v2.0 PSAT1 TRAIL SCHN commented on gene: PSAT1
Genomic newborn screening: BabyScreen+ v2.0 SLC37A4 TRAIL SCHN Deleted their review
Genomic newborn screening: BabyScreen+ v2.0 KCNH2 TRAIL SCHN Deleted their review
Cardiomyopathy_Paediatric v1.49 NDUFA5 Sarah Milton Classified gene: NDUFA5 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.49 NDUFA5 Sarah Milton Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.48 NDUFA5 Sarah Milton edited their review of gene: NDUFA5: Changed phenotypes: Mitochondrial disease, MONDO:0044970, NDUFA5-related
Cardiomyopathy_Paediatric v1.48 NDUFA5 Sarah Milton gene: NDUFA5 was added
gene: NDUFA5 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: NDUFA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA5 were set to 41916321
Phenotypes for gene: NDUFA5 were set to Mitochondrial disease, MONDO:0044970
Review for gene: NDUFA5 was set to AMBER
Added comment: PMID 41916321 reports 4 individuals from 3 unrelated families with biallelic loss-of-function NDUFA5 variants presenting with early onset multisystem mitochondrial disorder with complex I deficiency. One individual had hypertrophic cardiomyopathy and one had slight biventricular hypertrophy.

Paediatric onset HCM is likely to be a feature of this disorder given it is seen in other complex I deficiencies however few patients have been reported thus far.
Sources: Literature
Ectodermal Dysplasia v1.4 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530 to Ellis-van Creveld syndrome, MIM# 225500
Ectodermal Dysplasia v1.3 EVC Zornitza Stark Publications for gene: EVC were set to
Ectodermal Dysplasia v1.2 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v1.1 EVC Zornitza Stark edited their review of gene: EVC: Added comment: Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease.

Note the variant originally reported as associated with Weyers has been identified in phenotypically normal individuals and the gene-disease relationship is disputed. The association between bi-allelic variants and EVC syndrome is well established.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v1.2 EVC Zornitza Stark Marked gene: EVC as ready
Polydactyly v1.2 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Polydactyly v1.2 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500
Polydactyly v1.1 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v1.0 EVC Zornitza Stark reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.252 EVC Zornitza Stark Deleted their comment
Mendeliome v2.252 EVC Zornitza Stark commented on gene: EVC: Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease.

Note the variant originally reported as associated with Weyers has been identified in phenotypically normal individuals and the gene-disease relationship is disputed. The association between bi-allelic variants and EVC syndrome is well established.
Genomic newborn screening: BabyScreen+ v2.0 PSAT1 TRAIL SCHN Deleted their review
Mandibulofacial Acrofacial dysostosis v2.3 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v2.0 PSAT1 TRAIL SCHN Deleted their comment
Mandibulofacial Acrofacial dysostosis v2.2 EVC Zornitza Stark edited their review of gene: EVC: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic screening in children: BabyScreen+ v0.99 PCSK9 Zornitza Stark Tag cardiac tag was added to gene: PCSK9.
Tag treatable tag was added to gene: PCSK9.
Genomic screening in children: BabyScreen+ v0.98 Zornitza Stark Panel status changed from internal to public
Genomic newborn screening: BabyScreen+ v2.0 HMGCL TRAIL SCHN commented on gene: HMGCL
Hand and foot malformations v1.0 SETD5 Leah Frajman gene: SETD5 was added
gene: SETD5 was added to Hand and foot malformations. Sources: Literature
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD5 were set to 32793091; 29484850; 28881385
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: Multiple individuals reported with hand malformations, including more than 5 with polydactyly and at least 3 with clinodactyly.
Sources: Literature
Polydactyly v1.0 SETD5 Leah Frajman gene: SETD5 was added
gene: SETD5 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD5 were set to 32793091; 29484850; 28881385
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: Multiple individuals reported with hand malformations, including more than 5 with polydactyly and at least 3 with clinodactyly.
Sources: Literature
Cardiomyopathy_Paediatric v1.47 LETM1 Sarah Milton changed review comment from: PMID 36055214 reports 18 individuals from 11 families (collapsed to 9 independent families) with biallelic LETM1 loss-of-function or missense variants presenting with childhood-onset mitochondrial disease that occasionally includes hypertrophic cardiomyopathy (36% of cases).
Sources: Literature; to: PMID 36055214 reports 18 individuals from 11 families (collapsed to 9 independent families) with biallelic LETM1 loss-of-function or missense variants presenting with childhood-onset mitochondrial disease that occasionally includes paediatric onset hypertrophic cardiomyopathy (36% of cases).
Sources: Literature
Cardiomyopathy_Paediatric v1.47 LETM1 Sarah Milton Classified gene: LETM1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.47 LETM1 Sarah Milton Gene: letm1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.46 LETM1 Sarah Milton gene: LETM1 was added
gene: LETM1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, MONDO:0859304
Review for gene: LETM1 was set to GREEN
Added comment: PMID 36055214 reports 18 individuals from 11 families (collapsed to 9 independent families) with biallelic LETM1 loss-of-function or missense variants presenting with childhood-onset mitochondrial disease that occasionally includes hypertrophic cardiomyopathy (36% of cases).
Sources: Literature
Cardiomyopathy_Paediatric v1.45 FBXL4 Sarah Milton Classified gene: FBXL4 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.45 FBXL4 Sarah Milton Gene: fbxl4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.44 FBXL4 Sarah Milton gene: FBXL4 was added
gene: FBXL4 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL4 were set to 28940506
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM#615471
Review for gene: FBXL4 was set to GREEN
Added comment: PMID 28940506 reports 87 individuals from 72 unrelated families with biallelic loss‑of‑function FBXL4 variants causing mitochondrial DNA depletion syndrome 13. An early onset multisystem disease characterised by lactic acidosis, developmental delay, hypotonia and hypertrophic cardiomyopathy in ~20 % of cases.
Sources: Literature
Regression v1.2 GAS6 Zornitza Stark Marked gene: GAS6 as ready
Regression v1.2 GAS6 Zornitza Stark Gene: gas6 has been classified as Red List (Low Evidence).
Regression v1.2 Zornitza Stark Copied gene GAS6 from panel Mendeliome
Regression v1.2 GAS6 Zornitza Stark gene: GAS6 was added
gene: GAS6 was added to Regression. Sources: Expert Review Red,Literature
Mode of inheritance for gene: GAS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS6 were set to 41612647
Phenotypes for gene: GAS6 were set to Neurodevelopmental disorder, MONDO:0700092, GAS6-related
Mendeliome v2.252 GAS6 Zornitza Stark Marked gene: GAS6 as ready
Mendeliome v2.252 GAS6 Zornitza Stark Gene: gas6 has been classified as Red List (Low Evidence).
Mendeliome v2.252 GAS6 Zornitza Stark gene: GAS6 was added
gene: GAS6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GAS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS6 were set to 41612647
Phenotypes for gene: GAS6 were set to Neurodevelopmental disorder, MONDO:0700092, GAS6-related
Review for gene: GAS6 was set to RED
Added comment: PMID 41612647 reports an individual with autosomal recessive loss-of-function GAS6 (c.444G>A, p.Trp148Ter) presenting with a childhood‑onset demyelinating disorder characterised by progressive motor dysfunction, spasticity, seizures and cognitive decline. Functional studies in patient fibroblasts and GAS6‑silenced oligodendrocyte cells revealed loss of GAS6 expression, reduced TAM‑receptor signalling and impaired myelin‑related gene expression; wild‑type GAS6 rescued these deficits, supporting loss‑of‑function as the disease mechanism.
Sources: Literature
Combined Immunodeficiency v2.2 APOBEC2 Zornitza Stark Marked gene: APOBEC2 as ready
Combined Immunodeficiency v2.2 APOBEC2 Zornitza Stark Gene: apobec2 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v2.2 Zornitza Stark Copied gene APOBEC2 from panel Mendeliome
Combined Immunodeficiency v2.2 APOBEC2 Zornitza Stark gene: APOBEC2 was added
gene: APOBEC2 was added to Combined Immunodeficiency. Sources: Expert Review Red,Literature
Mode of inheritance for gene: APOBEC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOBEC2 were set to 42247564
Phenotypes for gene: APOBEC2 were set to Inborn error of immunity, MONDO:0003778, APOBEC2-related
Mendeliome v2.251 APOBEC2 Zornitza Stark Marked gene: APOBEC2 as ready
Mendeliome v2.251 APOBEC2 Zornitza Stark Gene: apobec2 has been classified as Red List (Low Evidence).
Mendeliome v2.251 APOBEC2 Zornitza Stark gene: APOBEC2 was added
gene: APOBEC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: APOBEC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOBEC2 were set to 42247564
Phenotypes for gene: APOBEC2 were set to Inborn error of immunity, MONDO:0003778, APOBEC2-related
Review for gene: APOBEC2 was set to RED
Added comment: PMID 42247564 reports 2 individuals from a single family with biallelic APOBEC2 missense variants presenting with infant‑onset combined immunodeficiency and a dual CD3⁺CD19⁺ lymphocyte phenotype. Mouse HSPC transplantation rescue assays show the p.T120N variant cannot rescue Apobec2 deficiency, supporting a recessive loss‑of‑function mechanism.

However, also note 58 homozygous individuals in gnomAD.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v2.15 ACTRT3 Zornitza Stark Marked gene: ACTRT3 as ready
Infertility and Recurrent Pregnancy Loss v2.15 ACTRT3 Zornitza Stark Gene: actrt3 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v2.15 Zornitza Stark Copied gene ACTRT3 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.15 ACTRT3 Zornitza Stark gene: ACTRT3 was added
gene: ACTRT3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ACTRT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTRT3 were set to 42330090
Phenotypes for gene: ACTRT3 were set to Infertility disorder, MONDO:0005047, ACTRT3-related
Mendeliome v2.250 ACTRT3 Zornitza Stark Marked gene: ACTRT3 as ready
Mendeliome v2.250 ACTRT3 Zornitza Stark Gene: actrt3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.250 ACTRT3 Zornitza Stark Classified gene: ACTRT3 as Amber List (moderate evidence)
Mendeliome v2.250 ACTRT3 Zornitza Stark Gene: actrt3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.249 ACTRT3 Zornitza Stark gene: ACTRT3 was added
gene: ACTRT3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACTRT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTRT3 were set to 42330090
Phenotypes for gene: ACTRT3 were set to Infertility disorder, MONDO:0005047, ACTRT3-related
Review for gene: ACTRT3 was set to AMBER
Added comment: PMID 42330090 reports 2 individuals from two unrelated families with biallelic ACTRT3 variants presenting with male infertility characterised by fertilisation failure despite normal sperm concentration and motility. Affected men show normal semen parameters but severe fertilisation defects, acrosome detachment, reduced ACTL7A protein, mislocalised PLCZ1 and impaired Ca²⁺ oscillations. Functional studies using a mouse knock‑in of the missense variant recapitulated sub‑fertility.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v2.14 MEIKIN Zornitza Stark Marked gene: MEIKIN as ready
Infertility and Recurrent Pregnancy Loss v2.14 MEIKIN Zornitza Stark Gene: meikin has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v2.14 Zornitza Stark Copied gene MEIKIN from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.14 MEIKIN Zornitza Stark gene: MEIKIN was added
gene: MEIKIN was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MEIKIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIKIN were set to 42221552
Phenotypes for gene: MEIKIN were set to Infertility disorder, MONDO:0005047
Mendeliome v2.248 MEIKIN Zornitza Stark Marked gene: MEIKIN as ready
Mendeliome v2.248 MEIKIN Zornitza Stark Gene: meikin has been classified as Amber List (Moderate Evidence).
Mendeliome v2.248 MEIKIN Zornitza Stark Classified gene: MEIKIN as Amber List (moderate evidence)
Mendeliome v2.248 MEIKIN Zornitza Stark Gene: meikin has been classified as Amber List (Moderate Evidence).
Mendeliome v2.247 MEIKIN Zornitza Stark gene: MEIKIN was added
gene: MEIKIN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEIKIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIKIN were set to 42221552
Phenotypes for gene: MEIKIN were set to Infertility disorder, MONDO:0005047
Review for gene: MEIKIN was set to AMBER
Added comment: PMID 42221552 reports 3 individuals from independent families with biallelic loss-of-function MEIKIN variants presenting with recurrent good-quality cleavage-stage blastulation failure (R‑GQBF) and severe oligoasthenoteratozoospermia. Sperm FISH and single‑sperm whole‑genome sequencing demonstrated complex aneuploidy, and embryo chromosomal profiling revealed uniform aneuploidy, implicating MEIKIN loss-of-function in male infertility. No experimental evidence presented.
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.39 RNU5A-1 Zornitza Stark commented on gene: RNU5A-1: LIMITED by ClinGen.
Mendeliome v2.246 RNU5A-1 Zornitza Stark commented on gene: RNU5A-1: LIMITED by ClinGen.
Intellectual disability syndromic and non-syndromic v2.39 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from complex neurodevelopmental disorder MONDO:0100038; Cortical malformations, occipital, MIM# 614115 to Cortical malformations, occipital, MIM# 614115
Intellectual disability syndromic and non-syndromic v2.38 LAMC3 Zornitza Stark Mode of inheritance for gene: LAMC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.37 TMEM63B Zornitza Stark Phenotypes for gene: TMEM63B were changed from Developmental and epileptic encephalopathy 118, MIM# 621250; Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related to Developmental and epileptic encephalopathy 118, MIM# 621250; Lung-brain developmental disorder, MIM# 621645
Intellectual disability syndromic and non-syndromic v2.36 TMEM63B Zornitza Stark edited their review of gene: TMEM63B: Changed phenotypes: Developmental and epileptic encephalopathy 118, MIM# 621250, Lung-brain developmental disorder, MIM# 621645
Pulmonary Fibrosis_Interstitial Lung Disease v2.3 TMEM63B Zornitza Stark Phenotypes for gene: TMEM63B were changed from Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related to Lung-brain developmental disorder, MIM# 621645
Pulmonary Fibrosis_Interstitial Lung Disease v2.2 TMEM63B Zornitza Stark edited their review of gene: TMEM63B: Changed phenotypes: Lung-brain developmental disorder, MIM# 621645
Mendeliome v2.246 TMEM63B Zornitza Stark Phenotypes for gene: TMEM63B were changed from Developmental and epileptic encephalopathy 118, MIM#621250; Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related to Developmental and epileptic encephalopathy 118, MIM#621250; Lung-brain developmental disorder, MIM# 621645
Mendeliome v2.245 TMEM63B Zornitza Stark edited their review of gene: TMEM63B: Changed phenotypes: Lung-brain developmental disorder, MIM# 621645
Cardiomyopathy_Paediatric v1.43 COQ2 Sarah Milton Classified gene: COQ2 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.43 COQ2 Sarah Milton Gene: coq2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.42 COQ2 Sarah Milton gene: COQ2 was added
gene: COQ2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ2 were set to 40929079; 33677064
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM#607426
Review for gene: COQ2 was set to GREEN
Added comment: Biallelic loss of function in COQ2 results in a wide spectrum of disease with the most severe being multisystem neonatal onset form with severity of presentation correlating to level of residual enzyme activity.

Hypertrophic cardiomyopathy has been reported in a small number of individuals with the severe neonatal form.

Note the small number of papers asserting a degree of treatment response to COQ10/4-hydroxybenzoic acid
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.36 RBMX Bryony Thompson Classified gene: RBMX as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v2.36 RBMX Bryony Thompson Gene: rbmx has been classified as Green List (High Evidence).
Microcephaly v2.8 Bryony Thompson Copied gene RBMX from panel Mendeliome
Microcephaly v2.8 RBMX Bryony Thompson gene: RBMX was added
gene: RBMX was added to Microcephaly. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBMX were set to 25256757; 34260915; 37277488; 39263607
Phenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555; Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Intellectual disability syndromic and non-syndromic v2.35 Bryony Thompson Added reviews for gene RBMX from panel Mendeliome
Genetic Epilepsy v2.22 Bryony Thompson Copied gene RBMX from panel Mendeliome
Genetic Epilepsy v2.22 RBMX Bryony Thompson gene: RBMX was added
gene: RBMX was added to Genetic Epilepsy. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBMX were set to 25256757; 34260915; 37277488; 39263607
Phenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555; Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Callosome v1.3 Bryony Thompson Copied gene RBMX from panel Mendeliome
Callosome v1.3 RBMX Bryony Thompson gene: RBMX was added
gene: RBMX was added to Callosome. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBMX were set to 25256757; 34260915; 37277488; 39263607
Phenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555; Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Anophthalmia_Microphthalmia_Coloboma v2.1 Bryony Thompson Copied gene RBMX from panel Mendeliome
Anophthalmia_Microphthalmia_Coloboma v2.1 RBMX Bryony Thompson gene: RBMX was added
gene: RBMX was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBMX were set to 25256757; 34260915; 37277488; 39263607
Phenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555; Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Mendeliome v2.245 RBMX Bryony Thompson Classified gene: RBMX as Green List (high evidence)
Mendeliome v2.245 RBMX Bryony Thompson Gene: rbmx has been classified as Green List (High Evidence).
Mendeliome v2.244 RBMX Bryony Thompson reviewed gene: RBMX: Rating: GREEN; Mode of pathogenicity: None; Publications: 42360281, 39263607, 37277488; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Corneal Dystrophy v2.1 Bryony Thompson Copied gene NQO1 from panel Mendeliome
Corneal Dystrophy v2.1 NQO1 Bryony Thompson gene: NQO1 was added
gene: NQO1 was added to Corneal Dystrophy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NQO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NQO1 were set to 42267673
Phenotypes for gene: NQO1 were set to epithelial recurrent erosion dystrophy MONDO:0007381
Mendeliome v2.244 NQO1 Bryony Thompson Marked gene: NQO1 as ready
Mendeliome v2.244 NQO1 Bryony Thompson Gene: nqo1 has been classified as Red List (Low Evidence).
Mendeliome v2.244 NQO1 Bryony Thompson gene: NQO1 was added
gene: NQO1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NQO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NQO1 were set to 42267673
Phenotypes for gene: NQO1 were set to epithelial recurrent erosion dystrophy MONDO:0007381
Review for gene: NQO1 was set to RED
Added comment: PMID 42267673 reports 30 individuals from 1 family with autosomal dominant missense variant p.Phe179Ile (c.535T>A) presenting with early‑onset corneal epithelial erosion dystrophy (Dystrophia Smolandiensis/ERED2). The variant co‑segregates across 49 informative meioses, is absent from gnomAD, and is hypothesised to act via toxic gain‑of‑function, although no variant‑specific functional assays were performed.
Sources: Literature
Choanal atresia v2.0 AXIN2 Lauren Rogers gene: AXIN2 was added
gene: AXIN2 was added to Choanal atresia. Sources: Literature
Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AXIN2 were set to 42429102
Phenotypes for gene: AXIN2 were set to Oligodontia-colorectal cancer syndrome (MIM#608615)
Review for gene: AXIN2 was set to RED
Added comment: PMID: 42429102: 1x de novo missense variant in an individual with choanal stenosis along with other features including oligodontia
Sources: Literature
Clefting disorders v1.0 AXIN2 Lauren Rogers changed review comment from: PMID: 36860143: 1x family with an NMD variant with 3/3 cleft palate, 1/3 hypodontia
PMID: 42429102: 1x individual with a de novo missense variant with cleft palate among other features including oligodontia

Also multiple SNP association studies that suggest AXIN2 is associated with cleft lip and palate
(PMID: 26602496, 22370446, 31268379)
Sources: Literature; to: PMID: 36860143: 1x family with an NMD variant with 3/3 cleft palate, 1/3 hypodontia
PMID: 42429102: 1x individual with a de novo missense variant with cleft palate among other features including oligodontia

Also multiple SNP association studies that suggest AXIN2 is associated with cleft lip and palate
(PMID: 26602496, 22370446, 31268379)
Sources: Literature
Clefting disorders v1.0 AXIN2 Lauren Rogers gene: AXIN2 was added
gene: AXIN2 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AXIN2 were set to PMID: 36860143; 42429102; 26602496; 22370446; 31268379
Phenotypes for gene: AXIN2 were set to Oligodontia-colorectal cancer syndrome (MIM#608615)
Review for gene: AXIN2 was set to AMBER
Added comment: PMID: 36860143: 1x family with an NMD variant with 3/3 cleft palate, 1/3 hypodontia
PMID: 42429102: 1x individual with a de novo missense variant with cleft palate among other features including oligodontia

Also multiple SNP association studies that suggest AXIN2 is associated with cleft lip and palate
(PMID: 26602496, 22370446, 31268379)
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v2.3 CNOT1 chirag patel changed review comment from: Total of 7 unrelated individuals now reported with holoprosencephaly (6/7), pancreatic agenesis (4/7), and diabetes (5/7 - neonatal 4, adolescence 1). They all have the same rare heterozygous missense variant in CNOT1 (c.1603C>T, p.Arg535Cys). The variant was confirmed to be de novo in 5/7 families, as segregation could not be completed in 2 families.

PMID 31006513: Knock‑in mouse model carrying CNOT1 p.Arg535Cys recapitulates holoprosencephaly, pancreatic agenesis and diabetes phenotypes, showing increased SHH expression, but rescue experiment not performed.; to: Total of 7 unrelated individuals now reported with holoprosencephaly (6/7), pancreatic agenesis (4/7), and diabetes (5/7 - neonatal 4, adolescence 1). They all have the same rare heterozygous missense variant in CNOT1 (c.1603C>T, p.Arg535Cys). The variant was confirmed to be de novo in 5/7 families, as segregation could not be completed in 2 families.

PMID 31006513: Knock‑in mouse model carrying CNOT1 p.Arg535Cys recapitulates holoprosencephaly, pancreatic agenesis and diabetes phenotypes, showing increased SHH expression, but rescue experiment not performed.

Any other variants need to be treated with extreme caution.
Holoprosencephaly and septo-optic dysplasia v2.3 CNOT1 chirag patel Classified gene: CNOT1 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v2.3 CNOT1 chirag patel Gene: cnot1 has been classified as Green List (High Evidence).
Fetal anomalies v2.13 CNOT1 chirag patel changed review comment from: Total of 7 unrelated individuals now reported with holoprosencephaly (6/7), pancreatic agenesis (4/7), and diabetes (5/7 - neonatal 4, adolescence 1). They all have the same rare heterozygous missense variant in CNOT1 (c.1603C>T, p.Arg535Cys). The variant was confirmed to be de novo in 5/7 families, as segregation could not be completed in 2 families.

PMID 31006513: Knock‑in mouse model carrying CNOT1 p.Arg535Cys recapitulates holoprosencephaly, pancreatic agenesis and diabetes phenotypes, showing increased SHH expression, but rescue experiment not performed.; to: Total of 7 unrelated individuals now reported with holoprosencephaly (6/7), pancreatic agenesis (4/7), and diabetes (5/7 - neonatal 4, adolescence 1). They all have the same rare heterozygous missense variant in CNOT1 (c.1603C>T, p.Arg535Cys). The variant was confirmed to be de novo in 5/7 families, as segregation could not be completed in 2 families.

PMID 31006513: Knock‑in mouse model carrying CNOT1 p.Arg535Cys recapitulates holoprosencephaly, pancreatic agenesis and diabetes phenotypes, showing increased SHH expression, but rescue experiment not performed.

Any other variants need to be treated with extreme caution.
Fetal anomalies v2.13 CNOT1 chirag patel Classified gene: CNOT1 as Green List (high evidence)
Fetal anomalies v2.13 CNOT1 chirag patel Gene: cnot1 has been classified as Green List (High Evidence).
Fetal anomalies v2.13 CNOT1 chirag patel Classified gene: CNOT1 as Green List (high evidence)
Fetal anomalies v2.13 CNOT1 chirag patel Gene: cnot1 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.26 CNOT1 chirag patel Classified gene: CNOT1 as Green List (high evidence)
Monogenic Diabetes v1.26 CNOT1 chirag patel Gene: cnot1 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.25 CNOT1 chirag patel changed review comment from: Total of 7 unrelated individuals now reported with holoprosencephaly (6/7), pancreatic agenesis (4/7), and diabetes (5/7 - neonatal 4, adolescence 1). They all have the same rare heterozygous missense variant in CNOT1 (c.1603C>T, p.Arg535Cys). The variant was confirmed to be de novo in 5/7 families, as segregation could not be completed in 2 families.

PMID 31006513: Knock‑in mouse model carrying CNOT1 p.Arg535Cys recapitulates holoprosencephaly, pancreatic agenesis and diabetes phenotypes, showing increased SHH expression, but rescue experiment not performed.; to: Total of 7 unrelated individuals now reported with holoprosencephaly (6/7), pancreatic agenesis (4/7), and diabetes (5/7 - neonatal 4, adolescence 1). They all have the same rare heterozygous missense variant in CNOT1 (c.1603C>T, p.Arg535Cys). The variant was confirmed to be de novo in 5/7 families, as segregation could not be completed in 2 families.

PMID 31006513: Knock‑in mouse model carrying CNOT1 p.Arg535Cys recapitulates holoprosencephaly, pancreatic agenesis and diabetes phenotypes, showing increased SHH expression, but rescue experiment not performed.

Any other variants need to be treated with extreme caution.
Fetal anomalies v2.12 MAML1 Zornitza Stark Marked gene: MAML1 as ready
Fetal anomalies v2.12 MAML1 Zornitza Stark Gene: maml1 has been classified as Green List (High Evidence).
Congenital Heart Defect v1.10 MAML1 Zornitza Stark Marked gene: MAML1 as ready
Congenital Heart Defect v1.10 MAML1 Zornitza Stark Gene: maml1 has been classified as Green List (High Evidence).
Fetal anomalies v2.12 Zornitza Stark Copied gene MAML1 from panel Mendeliome
Fetal anomalies v2.12 MAML1 Zornitza Stark gene: MAML1 was added
gene: MAML1 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAML1 were set to 42246060; 27997510; 27760138
Phenotypes for gene: MAML1 were set to Congenital heart disease, MONDO:0005453, MAML1-related
Congenital Heart Defect v1.10 Zornitza Stark Copied gene MAML1 from panel Mendeliome
Congenital Heart Defect v1.10 MAML1 Zornitza Stark gene: MAML1 was added
gene: MAML1 was added to Congenital Heart Defect. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAML1 were set to 42246060; 27997510; 27760138
Phenotypes for gene: MAML1 were set to Congenital heart disease, MONDO:0005453, MAML1-related
Mendeliome v2.243 MAML1 Zornitza Stark Marked gene: MAML1 as ready
Mendeliome v2.243 MAML1 Zornitza Stark Gene: maml1 has been classified as Green List (High Evidence).
Mendeliome v2.243 MAML1 Zornitza Stark Classified gene: MAML1 as Green List (high evidence)
Mendeliome v2.243 MAML1 Zornitza Stark Gene: maml1 has been classified as Green List (High Evidence).
Mendeliome v2.242 MAML1 Zornitza Stark gene: MAML1 was added
gene: MAML1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAML1 were set to 42246060; 27997510; 27760138
Phenotypes for gene: MAML1 were set to Congenital heart disease, MONDO:0005453, MAML1-related
Review for gene: MAML1 was set to GREEN
Added comment: MAML1 encodes the Notch transcriptional co‑activator Mastermind‑like protein 1. PMID 42246060 identifies eight individuals with congenital heart disease patients (with heterozygous missense variants Q401K, T433K, N580K and M698R that impair Notch signalling via disrupted phase separation, supported by luciferase reporter assays, a mouse knock‑in and human heart organoid models. PMID 27760138 describes five individuals from two families with left‑ventricular outflow tract obstruction due to rare heterozygous missense MAML1 variants that co‑segregate with disease, although no functional assays were performed.

Some of the reported variants are present in the population at high frequencies and are not segregated, hence the Amber rating.
Sources: Literature
Autoinflammatory Disorders v3.11 BIRC3 Zornitza Stark Marked gene: BIRC3 as ready
Autoinflammatory Disorders v3.11 BIRC3 Zornitza Stark Gene: birc3 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v1.3 BIRC3 Zornitza Stark Marked gene: BIRC3 as ready
Inflammatory bowel disease v1.3 BIRC3 Zornitza Stark Gene: birc3 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v1.3 Zornitza Stark Copied gene BIRC3 from panel Mendeliome
Inflammatory bowel disease v1.3 BIRC3 Zornitza Stark gene: BIRC3 was added
gene: BIRC3 was added to Inflammatory bowel disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: BIRC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BIRC3 were set to 42335979
Phenotypes for gene: BIRC3 were set to Inborn error of immunity, MONDO:0003778
Autoinflammatory Disorders v3.11 Zornitza Stark Copied gene BIRC3 from panel Mendeliome
Autoinflammatory Disorders v3.11 BIRC3 Zornitza Stark gene: BIRC3 was added
gene: BIRC3 was added to Autoinflammatory Disorders. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: BIRC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BIRC3 were set to 42335979
Phenotypes for gene: BIRC3 were set to Inborn error of immunity, MONDO:0003778
Mendeliome v2.241 BIRC3 Zornitza Stark Marked gene: BIRC3 as ready
Mendeliome v2.241 BIRC3 Zornitza Stark Gene: birc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.241 BIRC3 Zornitza Stark Classified gene: BIRC3 as Amber List (moderate evidence)
Mendeliome v2.241 BIRC3 Zornitza Stark Gene: birc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.240 BIRC3 Zornitza Stark gene: BIRC3 was added
gene: BIRC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BIRC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BIRC3 were set to 42335979
Phenotypes for gene: BIRC3 were set to Inborn error of immunity, MONDO:0003778
Review for gene: BIRC3 was set to AMBER
Added comment: BIRC3 encodes cellular inhibitor of apoptosis protein 2 (cIAP2), a regulator of TNF signalling. Association with Crohn's disease:
Monoallelic disease -- 8 individuals from 7 families with heterozygous BIRC3 variants (including 1 de novo and 2 recurrent p.H312Y families; inheritance of rest not determined); functional assays show impaired RIPK1 ubiquitylation and increased epithelial cell death.
Biallelic disease (infancy onset) – 6 individuals from 3 consanguineous families with homozygous loss-of-function BIRC3 variants; patient‑cell and animal models recapitulate the disease phenotype.

Two MOIs proposed, several of the variants not segregated, others homozygous, hence Amber rating overall.
Sources: Literature
Fetal anomalies v2.11 KIF5B Zornitza Stark Marked gene: KIF5B as ready
Fetal anomalies v2.11 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Fetal anomalies v2.11 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Kyphomelic dysplasia, Itai-Ikegawa type, MIM# 621644
Fetal anomalies v2.10 KIF5B Zornitza Stark reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kyphomelic dysplasia, Itai-Ikegawa type, MIM# 621644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.3 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia to Kyphomelic dysplasia, Itai-Ikegawa type, MIM# 621644
Skeletal dysplasia v1.2 KIF5B Zornitza Stark edited their review of gene: KIF5B: Changed phenotypes: Kyphomelic dysplasia, Itai-Ikegawa type, MIM# 621644
Mendeliome v2.239 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from osteogenesis imperfecta, MONDO:0019019, KIF5B-related; Skeletal dysplasia, MONDO:0018230, KIF5B-related to osteogenesis imperfecta, MONDO:0019019, KIF5B-related; Kyphomelic dysplasia, Itai-Ikegawa type, MIM# 621644
Mendeliome v2.238 KIF5B Zornitza Stark edited their review of gene: KIF5B: Changed phenotypes: Kyphomelic dysplasia, Itai-Ikegawa type, MIM# 621644, osteogenesis imperfecta, MONDO:0019019
Skeletal Dysplasia_Fetal v1.1 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Skeletal dysplasia, MONDO:0018230; KIF5B-related; Kyphomelic dysplasia to Kyphomelic dysplasia, Itai-Ikegawa type, MIM# 621644
Skeletal Dysplasia_Fetal v1.0 KIF5B Zornitza Stark reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kyphomelic dysplasia, Itai-Ikegawa type, MIM# 621644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v2.10 CNOT1 chirag patel Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12, with or without pancreatic agenesis, 618500; Vissers-Bodmer syndrome, MIM#619033 to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787; Vissers-Bodmer syndrome, MIM#619033
Fetal anomalies v2.9 CNOT1 chirag patel Publications for gene: CNOT1 were set to 31006510; 21679367; 31006513; 32553196
Fetal anomalies v2.8 chirag patel Added reviews for gene CNOT1 from panel Holoprosencephaly and septo-optic dysplasia
Mendeliome v2.238 CNOT1 chirag patel Phenotypes for gene: CNOT1 were changed from Vissers-Bodmer syndrome, MIM#619033; Holoprosencephaly 12, with or without pancreatic agenesis, OMIM# 618500 to Vissers-Bodmer syndrome, MIM#619033; Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787
Mendeliome v2.237 CNOT1 chirag patel Publications for gene: CNOT1 were set to 31006513; 31006510; 39149840; 35481434; 21679367; 32553196
Mendeliome v2.236 CNOT1 chirag patel Publications for gene: CNOT1 were set to 31006513; 21679367; 31006513; 32553196
Mendeliome v2.235 chirag patel Added reviews for gene CNOT1 from panel Holoprosencephaly and septo-optic dysplasia
Holoprosencephaly and septo-optic dysplasia v2.2 CNOT1 chirag patel Publications for gene: CNOT1 were set to PMID: 31006513
Holoprosencephaly and septo-optic dysplasia v2.1 chirag patel Added reviews for gene CNOT1 from panel Monogenic Diabetes
Monogenic Diabetes v1.25 CNOT1 chirag patel Publications for gene: CNOT1 were set to PMID: 31006513
Monogenic Diabetes v1.24 CNOT1 chirag patel reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31006513, 31006510, 39149840, 35481434; Phenotypes: Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.234 ABCA2 Sarah Milton reviewed gene: ABCA2: Rating: RED; Mode of pathogenicity: None; Publications: 42357868; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, ABCA2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v1.24 MT-TG chirag patel Marked gene: MT-TG as ready
Monogenic Diabetes v1.24 MT-TG chirag patel Gene: mt-tg has been classified as Green List (High Evidence).
Monogenic Diabetes v1.24 MT-TG chirag patel Classified gene: MT-TG as Green List (high evidence)
Monogenic Diabetes v1.24 MT-TG chirag patel Gene: mt-tg has been classified as Green List (High Evidence).
Monogenic Diabetes v1.23 MT-TG chirag patel gene: MT-TG was added
gene: MT-TG was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 27519417
Phenotypes for gene: MT-TG were set to Maternally-inherited diabetes and deafness, MONDO:0010785
Review for gene: MT-TG was set to GREEN
Added comment: PMID 27519417 reports 12 individuals from 3 Han Chinese families with homoplasmic mtDNA m.14692A>G (MT‑TG) variant presenting with maternally inherited diabetes and deafness (MIDD). Affected persons showed diabetes mellitus, sensorineural hearing loss and variable penetrance. Patient‑derived lymphoblastoid cell lines show loss of ψ55 modification, reduced tRNA Glu steady‑state level, impaired mitochondrial translation, decreased respiratory complex activity, lowered OCR and ATP production, reduced membrane potential and increased ROS.
Sources: Literature
Monogenic Diabetes v1.22 PTRH2 chirag patel Publications for gene: PTRH2 were set to 25558065; 25574476; 31057140; 27129381
Monogenic Diabetes v1.21 PTRH2 chirag patel Marked gene: PTRH2 as ready
Monogenic Diabetes v1.21 PTRH2 chirag patel Gene: ptrh2 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.21 PTRH2 chirag patel reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37239392; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v1.21 chirag patel Copied gene PTRH2 from panel Mendeliome
Monogenic Diabetes v1.21 PTRH2 chirag patel gene: PTRH2 was added
gene: PTRH2 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 25558065; 25574476; 31057140; 27129381
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263
Monogenic Diabetes v1.20 NARS2 chirag patel Classified gene: NARS2 as Green List (high evidence)
Monogenic Diabetes v1.20 NARS2 chirag patel Gene: nars2 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.19 NARS2 chirag patel Classified gene: NARS2 as Green List (high evidence)
Monogenic Diabetes v1.19 NARS2 chirag patel Gene: nars2 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.20 NARS2 chirag patel Classified gene: NARS2 as Green List (high evidence)
Monogenic Diabetes v1.20 NARS2 chirag patel Gene: nars2 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.19 NARS2 chirag patel Classified gene: NARS2 as Green List (high evidence)
Monogenic Diabetes v1.19 NARS2 chirag patel Gene: nars2 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.19 NARS2 chirag patel Classified gene: NARS2 as Green List (high evidence)
Monogenic Diabetes v1.19 NARS2 chirag patel Gene: nars2 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.19 NARS2 chirag patel Classified gene: NARS2 as Green List (high evidence)
Monogenic Diabetes v1.19 NARS2 chirag patel Gene: nars2 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.19 NARS2 chirag patel Classified gene: NARS2 as Green List (high evidence)
Monogenic Diabetes v1.19 NARS2 chirag patel Gene: nars2 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.18 NARS2 chirag patel Marked gene: NARS2 as ready
Monogenic Diabetes v1.18 NARS2 chirag patel Gene: nars2 has been classified as Red List (Low Evidence).
Monogenic Diabetes v1.18 NARS2 chirag patel gene: NARS2 was added
gene: NARS2 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NARS2 were set to 40887432; 35703918
Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation defect type 24, MONDO:0014547
Review for gene: NARS2 was set to GREEN
Added comment: Classified as DEFINITIVE by ClinGen (Dec 2024) for gene-disease association.

PMID 35703918 reports 2 individuals from 1 Japanese family with compound heterozygous NARS2 missense variants (p.Arg159Cys and p.Leu217Val) presenting with neonatal diabetes, epilepsy and severe developmental delay.

PMID 40887432 reports 8 individuals from 8 families (3 of which overlap with PMID 40302952) with homozygous NARS2 missense variants (p.Phe216Leu, p.Thr180Asn, p.Val440Leu) presenting with neonatal diabetes, seizures and neurodevelopmental impairment. Segregation was performed in some of the families.
Sources: Literature
Mitochondrial disease v2.1 NARS2 chirag patel reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v2.234 HDAC4 chirag patel Mode of pathogenicity for gene: HDAC4 was changed from Other to None
Mendeliome v2.233 HDAC4 chirag patel Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962; 33537682; 30968599
Mendeliome v2.233 HDAC4 chirag patel Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962; 33537682
Mendeliome v2.232 HDAC4 chirag patel Phenotypes for gene: HDAC4 were changed from Neurodevelopmental disorder with central hypotonia and dysmorphic facies MIM#619797; Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome; Monogenic diabetes, MONDO:0015967 to Neurodevelopmental disorder with central hypotonia and dysmorphic facies MIM#619797; Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome; Monogenic diabetes, MONDO:0015967
Mendeliome v2.231 HDAC4 chirag patel Phenotypes for gene: HDAC4 were changed from Neurodevelopmental disorder with central hypotonia and dysmorphic facies MIM#619797; Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome to Neurodevelopmental disorder with central hypotonia and dysmorphic facies MIM#619797; Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome; Monogenic diabetes, MONDO:0015967
Mendeliome v2.230 chirag patel Added reviews for gene HDAC4 from panel Monogenic Diabetes
Monogenic Diabetes v1.17 HDAC4 chirag patel Marked gene: HDAC4 as ready
Monogenic Diabetes v1.17 HDAC4 chirag patel Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v1.17 HDAC4 chirag patel Classified gene: HDAC4 as Amber List (moderate evidence)
Monogenic Diabetes v1.17 HDAC4 chirag patel Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v1.16 HDAC4 chirag patel gene: HDAC4 was added
gene: HDAC4 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HDAC4 were set to 30968599
Phenotypes for gene: HDAC4 were set to Monogenic diabetes, MONDO:0015967
Review for gene: HDAC4 was set to AMBER
Added comment: PMID 30968599 reports 3 individuals from 3 families with rare heterozygous missense HDAC4 variants (p.H227R de novo, p.D234N unk inheritance, p.E374K inherited from affected mother). Individuals presented with childhood‑onset non‑autoimmune diabetes (range 6-15yrs). Functional assays of all 3 variants in mouse β‑cell lines showed significantly reduced insulin secretion.

Note: HDAC4 gene is associated with a neurodevelopmental disorder (PMID 33537682) but there were none of these features reported in these 3 patients
Sources: Literature
Monogenic Diabetes v1.15 CP chirag patel Marked gene: CP as ready
Monogenic Diabetes v1.15 CP chirag patel Gene: cp has been classified as Green List (High Evidence).
Mendeliome v2.229 CP chirag patel commented on gene: CP
Monogenic Diabetes v1.15 CP chirag patel Classified gene: CP as Green List (high evidence)
Monogenic Diabetes v1.15 CP chirag patel Gene: cp has been classified as Green List (High Evidence).
Monogenic Diabetes v1.14 CP chirag patel gene: CP was added
gene: CP was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CP were set to 25661792
Phenotypes for gene: CP were set to Aceruloplasminemia, MONDO:0011426
Review for gene: CP was set to GREEN
Added comment: ClinGen DEFINITIVE gene-disease association (Nov 2025).

Aceruloplasminemia (ACEP) is an autosomal recessive disorder characterized by mild anemia (often microcytic), diabetes mellitus, retinopathy, liver disease, and progressive neurologic symptoms due to iron accumulation in the pancreas, retina, liver, and brain.

Diabetes mellitus reported as first symptom related to aceruloplasminemia in 68.5% of patients (manifesting at a median age of 38.5 years).
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.34 SEMA6A chirag patel Marked gene: SEMA6A as ready
Intellectual disability syndromic and non-syndromic v2.34 SEMA6A chirag patel Gene: sema6a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.34 chirag patel Copied gene SEMA6A from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.34 SEMA6A chirag patel gene: SEMA6A was added
gene: SEMA6A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SEMA6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA6A were set to 38062045,22132072
Phenotypes for gene: SEMA6A were set to Neurodevelopmental disorder, MONDO:0700092; SEMA6A-related
Mendeliome v2.229 SEMA6A chirag patel changed review comment from: PMID 42336675 reports 11 unrelated individuals with developmental delay, intellectual disability, autism spectrum disorder, ODD, ADHD, hypotonia, and brain anomalies. 5 individuals had small deletions (≤ 1.25 Mb) involving SEMA6A and 6 individuals had rare heterozygous SEMA6A variants (4 loss‑of‑function and 2 missense). The variants were de novo in 3 families (2 missense, 1 nonsense), inherited from a parent who was unaffected or had unknown clinical status in 5 families (1 nonsense, 1 frameshift, 1 splice, 2 deletions), or had unknown inheritance in 3 families (3 deletions). SEMA6A is a transmembrane protein that plays a role in axon guidance and cell migration. No functional studies performed in PMID 42336675, but Sema6a null mice have cerebral anatomical defects and altered social interactions and working memory (PMID 22132072).
Sources: Literature; to: PMID 42336675 reports 11 unrelated individuals with developmental delay, intellectual disability, autism spectrum disorder, ODD, ADHD, hypotonia, and brain anomalies. 5 individuals had small deletions (≤ 1.25 Mb) involving SEMA6A and 6 individuals had rare heterozygous SEMA6A variants (4 loss‑of‑function and 2 missense). The variants were de novo in 3 families (2 missense, 1 nonsense), inherited from a parent who was unaffected or had unknown clinical status in 5 families (1 nonsense, 1 frameshift, 1 splice, 2 deletions) suggesting incomplete penetrance, or had unknown inheritance in 3 families (3 deletions). SEMA6A is a transmembrane protein that plays a role in axon guidance and cell migration. No functional studies performed in PMID 42336675, but Sema6a null mice have cerebral anatomical defects and altered social interactions and working memory (PMID 22132072).
Sources: Literature
Mendeliome v2.229 SEMA6A chirag patel Marked gene: SEMA6A as ready
Mendeliome v2.229 SEMA6A chirag patel Gene: sema6a has been classified as Green List (High Evidence).
Mendeliome v2.229 SEMA6A chirag patel Classified gene: SEMA6A as Green List (high evidence)
Mendeliome v2.229 SEMA6A chirag patel Gene: sema6a has been classified as Green List (High Evidence).
Mendeliome v2.228 SEMA6A chirag patel gene: SEMA6A was added
gene: SEMA6A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEMA6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA6A were set to 38062045,22132072
Phenotypes for gene: SEMA6A were set to Neurodevelopmental disorder, MONDO:0700092; SEMA6A-related
Review for gene: SEMA6A was set to GREEN
Added comment: PMID 42336675 reports 11 unrelated individuals with developmental delay, intellectual disability, autism spectrum disorder, ODD, ADHD, hypotonia, and brain anomalies. 5 individuals had small deletions (≤ 1.25 Mb) involving SEMA6A and 6 individuals had rare heterozygous SEMA6A variants (4 loss‑of‑function and 2 missense). The variants were de novo in 3 families (2 missense, 1 nonsense), inherited from a parent who was unaffected or had unknown clinical status in 5 families (1 nonsense, 1 frameshift, 1 splice, 2 deletions), or had unknown inheritance in 3 families (3 deletions). SEMA6A is a transmembrane protein that plays a role in axon guidance and cell migration. No functional studies performed in PMID 42336675, but Sema6a null mice have cerebral anatomical defects and altered social interactions and working memory (PMID 22132072).
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.33 PREP chirag patel Marked gene: PREP as ready
Intellectual disability syndromic and non-syndromic v2.33 PREP chirag patel Gene: prep has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v2.21 PREP chirag patel Marked gene: PREP as ready
Genetic Epilepsy v2.21 PREP chirag patel Gene: prep has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.33 chirag patel Copied gene PREP from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.33 PREP chirag patel gene: PREP was added
gene: PREP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PREP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREP were set to 42362369
Phenotypes for gene: PREP were set to Neurodevelopmental disorder (MONDO:0700092), PREP-related
Genetic Epilepsy v2.21 chirag patel Copied gene PREP from panel Mendeliome
Genetic Epilepsy v2.21 PREP chirag patel gene: PREP was added
gene: PREP was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PREP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREP were set to 42362369
Phenotypes for gene: PREP were set to Neurodevelopmental disorder (MONDO:0700092), PREP-related
Mendeliome v2.227 PREP chirag patel Classified gene: PREP as Amber List (moderate evidence)
Mendeliome v2.227 PREP chirag patel Gene: prep has been classified as Amber List (Moderate Evidence).
Mendeliome v2.226 PREP chirag patel Classified gene: PREP as Amber List (moderate evidence)
Mendeliome v2.226 PREP chirag patel Gene: prep has been classified as Amber List (Moderate Evidence).
Mendeliome v2.225 PREP chirag patel Marked gene: PREP as ready
Mendeliome v2.225 PREP chirag patel Gene: prep has been classified as Red List (Low Evidence).
Mendeliome v2.225 PREP chirag patel gene: PREP was added
gene: PREP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PREP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREP were set to 42362369
Phenotypes for gene: PREP were set to Neurodevelopmental disorder (MONDO:0700092), PREP-related
Review for gene: PREP was set to AMBER
Added comment: PMID 42362369 reports 3 individuals from 2 unrelated families with homozygous loss-of-function PREP variants (c.1570_1573dup and c.1839-2A>G). Individuals presented with a syndromic neurodevelopmental disorder characterised by intellectual disability, epilepsy, hypotonia, dysmorphic features and behavioural abnormalities. Segregation analysis confirmed autosomal recessive inheritance. RNA‑seq and qRT‑PCR confirmed aberrant transcripts. Immunoblotting of patient‑derived lymphoblastoid cells showed complete loss of PREP protein for both variants, but no rescue experiments were performed. The precise physiological function of PREP remains largely elusive but other papers report Prep- KO mice show disturbed cone growth and synaptic function.
Sources: Literature
Deafness_IsolatedAndComplex v2.4 HSD17B7 chirag patel Marked gene: HSD17B7 as ready
Deafness_IsolatedAndComplex v2.4 HSD17B7 chirag patel Gene: hsd17b7 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v2.4 chirag patel Copied gene HSD17B7 from panel Mendeliome
Deafness_IsolatedAndComplex v2.4 HSD17B7 chirag patel gene: HSD17B7 was added
gene: HSD17B7 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: HSD17B7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSD17B7 were set to 42233258
Phenotypes for gene: HSD17B7 were set to Sensorineural hearing loss disorder, MONDO:0020678
Mendeliome v2.224 chirag patel Added reviews for gene HSD17B7 from panel Mendeliome
Mendeliome v2.223 HSD17B7 chirag patel Marked gene: HSD17B7 as ready
Mendeliome v2.223 HSD17B7 chirag patel Gene: hsd17b7 has been classified as Red List (Low Evidence).
Mendeliome v2.223 HSD17B7 chirag patel changed review comment from: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. HSD17B7 (17β-Hydroxysteroid dehydrogenase type 7) catalyzes the conversion of zymosterone to zymosterol, a key step in the post- lanosterol cholesterol biosynthetic pathway. Hsd17b7 is highly enriched in sensory hair cells of zebrafish and mice. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism.
Sources: Literature; to: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. HSD17B7 (17β-Hydroxysteroid dehydrogenase type 7) catalyzes the conversion of zymosterone to zymosterol, a key step in the post- lanosterol cholesterol biosynthetic pathway. Hsd17b7 is highly enriched in sensory hair cells of zebrafish and mice. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in Hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism.
Sources: Literature
Mendeliome v2.223 HSD17B7 chirag patel changed review comment from: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism.
Sources: Literature; to: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. HSD17B7 (17β-Hydroxysteroid dehydrogenase type 7) catalyzes the conversion of zymosterone to zymosterol, a key step in the post- lanosterol cholesterol biosynthetic pathway. Hsd17b7 is highly enriched in sensory hair cells of zebrafish and mice. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism.
Sources: Literature
Mendeliome v2.223 HSD17B7 chirag patel gene: HSD17B7 was added
gene: HSD17B7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HSD17B7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSD17B7 were set to 42233258
Phenotypes for gene: HSD17B7 were set to Sensorineural hearing loss disorder, MONDO:0020678
Review for gene: HSD17B7 was set to RED
Added comment: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism.
Sources: Literature
Mendeliome v2.222 EGFR chirag patel changed review comment from: Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481;
Green rating
PMID: 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400

Total 27 individuals from 24 families reported with this condition. 23 families (20 Roma descent, 3 unknown ethnicity) had the same homozygous missense variant in EGFR (c.1283 G>A; p.Gly428Asp) strongly supporting a founder effect. 1 Japanese family had compound heterozygous variants (p.R98X and p.I365N). Segregation testing was only performed in a few families.

Condition characterised by intrauterine growth retardation, premature birth, skin issues (thin, translucent, fragile, desquamation, ichthyosis, infective/inflammatory lesions), nephromegaly, renal tubular dysfunction with electrolyte imbalances, chronic diarrhoea, necrotising enterocolitis, recurrent infections with sepsis, cardiac anomalies, and dysmorphism. Most die within 2.5 years.

PMID 24691054: Skin biopsy demonstrated an altered cellular distribution of EGFR in the epidermis with reduced cell membrane labeling, and in vitro analysis of the mutant receptor revealed abrogated EGFR phosphorylation and EGF-stimulated downstream signaling.

PMID 26436111: EGF failed to induce mutated receptor phosphorylation in patient-derived fibroblasts and activation of downstream targets was suppressed. The heterologously expressed extracellular domain was impaired in stability and the binding of EGF.

EGFR knockout mice show some clinical and pathological similarities with patients though features are not present at birth but develop afterwards in the skin, lungs, and digestive organs (PMID 9176390, 7618085, 7630400).

--------------------------------------------------------------------------------------
Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492; Acanthosis nigricans MONDO:0007035
Amber rating
PMID: 41533385

3 unrelated individuals presenting with widespread acanthosis nigricans, woolly hair, palmoplantar keratoderma and pulmonary nodules (consistent with atypical adenomatous hyperplasia). They all had the same heterozygous variant in EGFR (p.L858R). Two were shown to be de novo, and one was in post‑zygotic mosaic state. Patient‑cell assays show increased EGFR‑signalling supporting a gain of function mechanism. Therapy with an EGFR inhibitor in the 2 patients with germline variants showed marked improvement in skin and lung manifestations.; to: Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481;
Biallelic - LOF
Green rating
PMID: 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400

Total 27 individuals from 24 families reported with this condition. 23 families (20 Roma descent, 3 unknown ethnicity) had the same homozygous missense variant in EGFR (c.1283 G>A; p.Gly428Asp) strongly supporting a founder effect. 1 Japanese family had compound heterozygous variants (p.R98X and p.I365N). Segregation testing was only performed in a few families.

Condition characterised by intrauterine growth retardation, premature birth, skin issues (thin, translucent, fragile, desquamation, ichthyosis, infective/inflammatory lesions), nephromegaly, renal tubular dysfunction with electrolyte imbalances, chronic diarrhoea, necrotising enterocolitis, recurrent infections with sepsis, cardiac anomalies, and dysmorphism. Most die within 2.5 years.

PMID 24691054: Skin biopsy demonstrated an altered cellular distribution of EGFR in the epidermis with reduced cell membrane labeling, and in vitro analysis of the mutant receptor revealed abrogated EGFR phosphorylation and EGF-stimulated downstream signaling.

PMID 26436111: EGF failed to induce mutated receptor phosphorylation in patient-derived fibroblasts and activation of downstream targets was suppressed. The heterologously expressed extracellular domain was impaired in stability and the binding of EGF.

EGFR knockout mice show some clinical and pathological similarities with patients though features are not present at birth but develop afterwards in the skin, lungs, and digestive organs (PMID 9176390, 7618085, 7630400).

--------------------------------------------------------------------------------------
Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492; Acanthosis nigricans MONDO:0007035
Monoallelic - GOF
Amber rating
PMID: 41533385

3 unrelated individuals presenting with widespread acanthosis nigricans, woolly hair, palmoplantar keratoderma and pulmonary nodules (consistent with atypical adenomatous hyperplasia). They all had the same heterozygous variant in EGFR (p.L858R). Two were shown to be de novo, and one was in post‑zygotic mosaic state. Patient‑cell assays show increased EGFR‑signalling supporting a gain of function mechanism. Therapy with an EGFR inhibitor in the 2 patients with germline variants showed marked improvement in skin and lung manifestations.
Mendeliome v2.222 EGFR chirag patel Deleted their comment
Mendeliome v2.222 EGFR chirag patel Deleted their comment
Mendeliome v2.222 EGFR chirag patel edited their review of gene: EGFR: Added comment: Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481;
Green rating
PMID: 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400

Total 27 individuals from 24 families reported with this condition. 23 families (20 Roma descent, 3 unknown ethnicity) had the same homozygous missense variant in EGFR (c.1283 G>A; p.Gly428Asp) strongly supporting a founder effect. 1 Japanese family had compound heterozygous variants (p.R98X and p.I365N). Segregation testing was only performed in a few families.

Condition characterised by intrauterine growth retardation, premature birth, skin issues (thin, translucent, fragile, desquamation, ichthyosis, infective/inflammatory lesions), nephromegaly, renal tubular dysfunction with electrolyte imbalances, chronic diarrhoea, necrotising enterocolitis, recurrent infections with sepsis, cardiac anomalies, and dysmorphism. Most die within 2.5 years.

PMID 24691054: Skin biopsy demonstrated an altered cellular distribution of EGFR in the epidermis with reduced cell membrane labeling, and in vitro analysis of the mutant receptor revealed abrogated EGFR phosphorylation and EGF-stimulated downstream signaling.

PMID 26436111: EGF failed to induce mutated receptor phosphorylation in patient-derived fibroblasts and activation of downstream targets was suppressed. The heterologously expressed extracellular domain was impaired in stability and the binding of EGF.

EGFR knockout mice show some clinical and pathological similarities with patients though features are not present at birth but develop afterwards in the skin, lungs, and digestive organs (PMID 9176390, 7618085, 7630400).

--------------------------------------------------------------------------------------
Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492; Acanthosis nigricans MONDO:0007035
Amber rating
PMID: 41533385

3 unrelated individuals presenting with widespread acanthosis nigricans, woolly hair, palmoplantar keratoderma and pulmonary nodules (consistent with atypical adenomatous hyperplasia). They all had the same heterozygous variant in EGFR (p.L858R). Two were shown to be de novo, and one was in post‑zygotic mosaic state. Patient‑cell assays show increased EGFR‑signalling supporting a gain of function mechanism. Therapy with an EGFR inhibitor in the 2 patients with germline variants showed marked improvement in skin and lung manifestations.; Changed rating: GREEN; Changed publications: 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400,41533385; Changed phenotypes: Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481, Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492, Acanthosis nigricans MONDO:0007035
Mendeliome v2.222 EGFR chirag patel changed review comment from: 3 unrelated individuals presenting with widespread acanthosis nigricans, woolly hair, palmoplantar keratoderma and pulmonary nodules (consistent with atypical adenomatous hyperplasia). They all had the same heterozygous variant in EGFR (p.L858R). Two were shown to be de novo, and one was in post‑zygotic mosaic state. Patient‑cell assays show increased EGFR‑signalling supporting a gain of function mechanism. Therapy with an EGFR inhibitor in the 2 patients with germline variants showed marked improvement in skin and lung manifestations.; to: Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492; Acanthosis nigricans MONDO:0007035
Amber rating

3 unrelated individuals presenting with widespread acanthosis nigricans, woolly hair, palmoplantar keratoderma and pulmonary nodules (consistent with atypical adenomatous hyperplasia). They all had the same heterozygous variant in EGFR (p.L858R). Two were shown to be de novo, and one was in post‑zygotic mosaic state. Patient‑cell assays show increased EGFR‑signalling supporting a gain of function mechanism. Therapy with an EGFR inhibitor in the 2 patients with germline variants showed marked improvement in skin and lung manifestations.
Mendeliome v2.222 EGFR chirag patel Phenotypes for gene: EGFR were changed from Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481 to Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481; Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492; Acanthosis nigricans MONDO:0007035
Mendeliome v2.221 EGFR chirag patel Publications for gene: EGFR were set to 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400
Mendeliome v2.220 EGFR chirag patel Mode of inheritance for gene: EGFR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.219 EGFR chirag patel edited their review of gene: EGFR: Added comment: 3 unrelated individuals presenting with widespread acanthosis nigricans, woolly hair, palmoplantar keratoderma and pulmonary nodules (consistent with atypical adenomatous hyperplasia). They all had the same heterozygous variant in EGFR (p.L858R). Two were shown to be de novo, and one was in post‑zygotic mosaic state. Patient‑cell assays show increased EGFR‑signalling supporting a gain of function mechanism. Therapy with an EGFR inhibitor in the 2 patients with germline variants showed marked improvement in skin and lung manifestations.; Changed rating: AMBER; Changed mode of pathogenicity: Other; Changed publications: 41533385; Changed phenotypes: Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492, Acanthosis nigricans MONDO:0007035
Mendeliome v2.219 chirag patel Added reviews for gene EGFR from panel Palmoplantar Keratoderma and Erythrokeratoderma
Mendeliome v2.218 CDO1 Sangavi Sivagnanasundram edited their review of gene: CDO1: Added comment: PMID 42320481 describes functional studies indicating that p.H147R and p.E143K confer a gain‑of‑function effect by preventing LRRC58‑mediated degradation. However, the two missense variants are classified as VUS. No positive controls were used in the assay, and it was compared only to the WT.

The publication also mentions five families with heterozygous missense variants, however, I cannot find details of the other two families that haven't been previously reported.; Changed publications: 42320481; Changed phenotypes: Syndromic disease, MONDO:0002254, CDO1-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.218 chirag patel Added reviews for gene EGFR from panel Palmoplantar Keratoderma and Erythrokeratoderma
Palmoplantar Keratoderma and Erythrokeratoderma v1.3 EGFR chirag patel Marked gene: EGFR as ready
Palmoplantar Keratoderma and Erythrokeratoderma v1.3 EGFR chirag patel Gene: egfr has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v1.3 EGFR chirag patel Classified gene: EGFR as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v1.3 EGFR chirag patel Gene: egfr has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v1.2 EGFR chirag patel gene: EGFR was added
gene: EGFR was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: EGFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EGFR were set to 41533385
Phenotypes for gene: EGFR were set to Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492; Acanthosis nigricans MONDO:0007035
Mode of pathogenicity for gene: EGFR was set to Other
Review for gene: EGFR was set to AMBER
Added comment: 3 unrelated individuals presenting with widespread acanthosis nigricans, woolly hair, palmoplantar keratoderma and pulmonary nodules (consistent with atypical adenomatous hyperplasia). They all had the same heterozygous variant in EGFR (p.L858R). Two were shown to be de novo, and one was in post‑zygotic mosaic state. Patient‑cell assays show increased EGFR‑signalling supporting a gain of function mechanism. Therapy with an EGFR inhibitor in the 2 patients with germline variants showed marked improvement in skin and lung manifestations.
Sources: Literature
Genomic newborn screening: BabyScreen+ v2.0 CYP21A2 Zornitza Stark Tag not in TRAIL tag was added to gene: CYP21A2.
Renal Tubulopathies and related disorders v2.5 EGFR chirag patel Marked gene: EGFR as ready
Renal Tubulopathies and related disorders v2.5 EGFR chirag patel Gene: egfr has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v2.5 EGFR chirag patel Publications for gene: EGFR were set to 24691054
Renal Tubulopathies and related disorders v2.4 EGFR chirag patel Phenotypes for gene: EGFR were changed from Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069 to Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481
Renal Tubulopathies and related disorders v2.3 EGFR chirag patel Classified gene: EGFR as Green List (high evidence)
Renal Tubulopathies and related disorders v2.3 EGFR chirag patel Gene: egfr has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v2.2 EGFR chirag patel edited their review of gene: EGFR: Added comment: Total 27 individuals from 24 families reported with this condition. 23 families (20 Roma descent, 3 unknown ethnicity) had the same homozygous missense variant in EGFR (c.1283 G>A; p.Gly428Asp) strongly supporting a founder effect. 1 Japanese family had compound heterozygous variants (p.R98X and p.I365N). Segregation testing was only performed in a few families.

Condition characterised by intrauterine growth retardation, premature birth, skin issues (thin, translucent, fragile, desquamation, ichthyosis, infective/inflammatory lesions), nephromegaly, renal tubular dysfunction with electrolyte imbalances, chronic diarrhoea, necrotising enterocolitis, recurrent infections with sepsis, cardiac anomalies, and dysmorphism. Most die within 2.5 years.

PMID 24691054: Skin biopsy demonstrated an altered cellular distribution of EGFR in the epidermis with reduced cell membrane labeling, and in vitro analysis of the mutant receptor revealed abrogated EGFR phosphorylation and EGF-stimulated downstream signaling.

PMID 26436111: EGF failed to induce mutated receptor phosphorylation in patient-derived fibroblasts and activation of downstream targets was suppressed. The heterologously expressed extracellular domain was impaired in stability and the binding of EGF.

EGFR knockout mice show some clinical and pathological similarities with patients though features are not present at birth but develop afterwards in the skin, lungs, and digestive organs (PMID 9176390, 7618085, 7630400).; Changed rating: GREEN; Changed publications: 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400; Changed phenotypes: Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481
Renal Tubulopathies and related disorders v2.2 chirag patel Added reviews for gene EGFR from panel Mendeliome
Ectodermal Dysplasia v1.1 EGFR chirag patel Marked gene: EGFR as ready
Ectodermal Dysplasia v1.1 EGFR chirag patel Gene: egfr has been classified as Green List (High Evidence).
Autoinflammatory Disorders v3.10 EGFR chirag patel Marked gene: EGFR as ready
Autoinflammatory Disorders v3.10 EGFR chirag patel Gene: egfr has been classified as Green List (High Evidence).
Congenital Diarrhoea v2.3 EGFR chirag patel Marked gene: EGFR as ready
Congenital Diarrhoea v2.3 EGFR chirag patel Gene: egfr has been classified as Green List (High Evidence).
Congenital Heart Defect v1.9 EGFR chirag patel Marked gene: EGFR as ready
Congenital Heart Defect v1.9 EGFR chirag patel Gene: egfr has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v2.1 chirag patel Added reviews for gene EGFR from panel Mendeliome
Ectodermal Dysplasia v1.1 chirag patel Copied gene EGFR from panel Mendeliome
Ectodermal Dysplasia v1.1 EGFR chirag patel gene: EGFR was added
gene: EGFR was added to Ectodermal Dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400
Phenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481
Congenital Heart Defect v1.9 chirag patel Copied gene EGFR from panel Mendeliome
Congenital Heart Defect v1.9 EGFR chirag patel gene: EGFR was added
gene: EGFR was added to Congenital Heart Defect. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400
Phenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481
Congenital Diarrhoea v2.3 chirag patel Copied gene EGFR from panel Mendeliome
Congenital Diarrhoea v2.3 EGFR chirag patel gene: EGFR was added
gene: EGFR was added to Congenital Diarrhoea. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400
Phenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481
Autoinflammatory Disorders v3.10 chirag patel Copied gene EGFR from panel Mendeliome
Autoinflammatory Disorders v3.10 EGFR chirag patel gene: EGFR was added
gene: EGFR was added to Autoinflammatory Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400
Phenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481
Mendeliome v2.217 EGFR chirag patel changed review comment from: Total 27 individuals from 24 families reported with this condition. 23 families (20 Roma descent, 3 unknown ethnicity) had the same homozygous missense variant in EGFR (c.1283 G>A; p.Gly428Asp) strongly supporting a founder effect. 1 Japanese family had compound heterozygous variants (p.R98X and p.I365N). Segregation testing was only performed in a few families.

Condition characterised by intrauterine growth retardation, premature birth, skin issues (thin, translucent, fragile, desquamation, ichthyosis, infective/inflammatory lesions), nephromegaly, renal tubular dysfunction with electrolyte imbalances, chronic diarrhoea, necrotising enterocolitis, recurrent infections with sepsis, cardiac anomalies, and dysmorphism. Most die within 2.5 years.

PMID 24691054: Skin biopsy demonstrated an altered cellular distribution of EGFR in the epidermis with reduced cell membrane labeling, and in vitro analysis of the mutant receptor revealed abrogated EGFR phosphorylation and EGF-stimulated downstream signaling.

PMID 26436111: EGF failed to induce mutated receptor phosphorylation in patient-derived fibroblasts and activation of downstream targets was suppressed. The heterologously expressed extracellular domain was impaired in stability and the binding of EGF.

EGFR knockout mice show some clinical and pathological similarities with patients though features are not present at birth but develop afterwards in the skin, lungs, and digestive organs (PMID 9176390, 7618085, 7630400).; to: Total 27 individuals from 24 families reported with this condition. 23 families (20 Roma descent, 3 unknown ethnicity) had the same homozygous missense variant in EGFR (c.1283 G>A; p.Gly428Asp) strongly supporting a founder effect. 1 Japanese family had compound heterozygous variants (p.R98X and p.I365N). Segregation testing was only performed in a few families.

Condition characterised by intrauterine growth retardation, premature birth, skin issues (thin, translucent, fragile, desquamation, ichthyosis, infective/inflammatory lesions), nephromegaly, renal tubular dysfunction with electrolyte imbalances, chronic diarrhoea, necrotising enterocolitis, recurrent infections with sepsis, cardiac anomalies, and dysmorphism. Most die within 2.5 years.

PMID 24691054: Skin biopsy demonstrated an altered cellular distribution of EGFR in the epidermis with reduced cell membrane labeling, and in vitro analysis of the mutant receptor revealed abrogated EGFR phosphorylation and EGF-stimulated downstream signaling.

PMID 26436111: EGF failed to induce mutated receptor phosphorylation in patient-derived fibroblasts and activation of downstream targets was suppressed. The heterologously expressed extracellular domain was impaired in stability and the binding of EGF.

EGFR knockout mice show some clinical and pathological similarities with patients though features are not present at birth but develop afterwards in the skin, lungs, and digestive organs (PMID 9176390, 7618085, 7630400).
Mendeliome v2.217 EGFR chirag patel Phenotypes for gene: EGFR were changed from Neonatal nephrocutaneous inflammatory syndrome, OMIM #616069 to Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481
Mendeliome v2.216 EGFR chirag patel Phenotypes for gene: EGFR were changed from Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069 to Neonatal nephrocutaneous inflammatory syndrome, OMIM #616069
Mendeliome v2.215 EGFR chirag patel Publications for gene: EGFR were set to 24691054
Mendeliome v2.214 EGFR chirag patel Classified gene: EGFR as Green List (high evidence)
Mendeliome v2.214 EGFR chirag patel Gene: egfr has been classified as Green List (High Evidence).
Mendeliome v2.213 EGFR chirag patel reviewed gene: EGFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400; Phenotypes: Neonatal nephrocutaneous inflammatory syndrome, OMIM #616069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v3.28 ATG9A chirag patel Marked gene: ATG9A as ready
Early-onset Parkinson disease v3.28 ATG9A chirag patel Gene: atg9a has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v3.28 ATG9A chirag patel Phenotypes for gene: ATG9A were changed from Autophagy-associated immune dysregulation and hyperplasia; Young-onset Parkinson disease, MONDO:0017279 to Young-onset Parkinson disease, MONDO:0017279
Early-onset Parkinson disease v3.27 ATG9A chirag patel Publications for gene: ATG9A were set to 35838483; 42327715
Early-onset Parkinson disease v3.26 ATG9A chirag patel Mode of inheritance for gene: ATG9A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v3.25 chirag patel Copied gene ATG9A from panel Mendeliome
Early-onset Parkinson disease v3.25 ATG9A chirag patel gene: ATG9A was added
gene: ATG9A was added to Early-onset Parkinson disease. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ATG9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATG9A were set to 35838483; 42327715
Phenotypes for gene: ATG9A were set to Autophagy-associated immune dysregulation and hyperplasia; Young-onset Parkinson disease, MONDO:0017279
Mendeliome v2.213 ATG9A chirag patel Mode of inheritance for gene: ATG9A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.212 ATG9A chirag patel Publications for gene: ATG9A were set to 35838483
Mendeliome v2.212 ATG9A chirag patel Phenotypes for gene: ATG9A were changed from Autophagy-associated immune dysregulation and hyperplasia; Young-onset Parkinson disease, MONDO:0017279 to Autophagy-associated immune dysregulation and hyperplasia; Young-onset Parkinson disease, MONDO:0017279
Mendeliome v2.211 ATG9A chirag patel Phenotypes for gene: ATG9A were changed from Autophagy-associated immune dysregulation and hyperplasia to Autophagy-associated immune dysregulation and hyperplasia; Young-onset Parkinson disease, MONDO:0017279
Mendeliome v2.210 ATG9A chirag patel reviewed gene: ATG9A: Rating: RED; Mode of pathogenicity: None; Publications: 42327715; Phenotypes: Young-onset Parkinson disease, MONDO:0017279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies v0.133 Bryony Thompson Added reviews for gene TINF2 from panel Mendeliome
Haematological malignancies v0.132 Bryony Thompson Added reviews for gene TERT from panel Bone Marrow Failure
Haematological malignancies v0.131 Bryony Thompson Added reviews for gene TERC from panel Mendeliome
Haematological malignancies v0.130 STXBP2 Bryony Thompson Publications for gene: STXBP2 were set to 23100279; 24827398
Haematological malignancies v0.129 STXBP2 Bryony Thompson edited their review of gene: STXBP2: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies v0.129 STXBP2 Bryony Thompson reviewed gene: STXBP2: Rating: ; Mode of pathogenicity: None; Publications: 40262927, 23100279; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101; Mode of inheritance: None
Phagocyte Defects v2.3 Bryony Thompson Copied gene CSF3 from panel Mendeliome
Phagocyte Defects v2.3 CSF3 Bryony Thompson gene: CSF3 was added
gene: CSF3 was added to Phagocyte Defects. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF3 were set to 42358053; 37612131
Phenotypes for gene: CSF3 were set to autosomal recessive severe congenital neutropenia MONDO:0028226
Mendeliome v2.210 CSF3 Bryony Thompson Classified gene: CSF3 as Amber List (moderate evidence)
Mendeliome v2.210 CSF3 Bryony Thompson Gene: csf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.209 CSF3 Bryony Thompson gene: CSF3 was added
gene: CSF3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF3 were set to 42358053; 37612131
Phenotypes for gene: CSF3 were set to autosomal recessive severe congenital neutropenia MONDO:0028226
Review for gene: CSF3 was set to AMBER
Added comment: PMID 37612131 reports three individuals from two consanguineous families with autosomal recessive severe congenital neutropenia and homozygous nonsense CSF3 variants (p.Gln150Ter, p.Gln175Ter); PMID 42358053 adds one individual from a third consanguineous family with a homozygous nonsense variant (also p.Gln150Ter). All patients present with early‑onset neutropenia, recurrent infections and bone‑marrow hypocellularity. RT‑PCR on patient fibroblasts shows complete loss of CSF3 transcript, but no rescue experiments have been performed.
Sources: Literature
Inflammatory bowel disease v1.2 Bryony Thompson Copied gene GPR15 from panel Mendeliome
Inflammatory bowel disease v1.2 GPR15 Bryony Thompson gene: GPR15 was added
gene: GPR15 was added to Inflammatory bowel disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GPR15 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GPR15 were set to 42259915
Phenotypes for gene: GPR15 were set to inflammatory bowel disease MONDO:0005265
Disorders of immune dysregulation v2.3 Bryony Thompson Copied gene GPR15 from panel Mendeliome
Disorders of immune dysregulation v2.3 GPR15 Bryony Thompson gene: GPR15 was added
gene: GPR15 was added to Disorders of immune dysregulation. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GPR15 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GPR15 were set to 42259915
Phenotypes for gene: GPR15 were set to inflammatory bowel disease MONDO:0005265
Mendeliome v2.208 GPR15 Bryony Thompson Classified gene: GPR15 as Amber List (moderate evidence)
Mendeliome v2.208 GPR15 Bryony Thompson Gene: gpr15 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.207 GPR15 Bryony Thompson gene: GPR15 was added
gene: GPR15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPR15 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GPR15 were set to 42259915
Phenotypes for gene: GPR15 were set to inflammatory bowel disease MONDO:0005265
Review for gene: GPR15 was set to AMBER
Added comment: GPR15 encodes a G protein‑coupled receptor that directs CD8⁺ regulatory T cells to the colon. PMID 42259915 reports 2 families with heterozygous truncating variants (p.Q281X, p.Y215X) presenting with early‑onset inflammatory bowel disease (IBD) in a dominant pattern. Affected carriers show variable penetrance (4/10; 40%), with some individuals mildly affected. Functional assays in patient T cells demonstrate reduced GPR15 surface expression, impaired Ca²⁺ signaling and defective chemotaxis, which is rescued by wild‑type GPR15; Gpr15‑null mice develop colitis, supporting a loss‑of‑function mechanism. PMID 42259915 also describes 2 families (1 mentioned above with both monoallelic and biallelic) with biallelic loss‑of‑function variants (compound heterozygous p.D306N/p.Q281X and homozygous p.Y215X) with severe early‑onset IBD (penetrance was partial in biallelic 3/4; 75%). Patient‑cell assays again show defective trafficking and signaling, restored by wild‑type rescue, and mouse models recapitulate colitis. One additional family homozygous for p.Y132S/p.F159I was excluded due to the high population frequency of p.Y132S. Suggested to be a possible hypomorph. Only 3 families contribute assessment, with suggested semidominant incomplete penetrance.
Sources: Literature
Mendeliome v2.206 OFD1 Zornitza Stark Publications for gene: OFD1 were set to 31373179; 23033313; 16783569
Mendeliome v2.205 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Growth failure v2.9 EIF1AX Rylee Peters Marked gene: EIF1AX as ready
Growth failure v2.9 EIF1AX Rylee Peters Gene: eif1ax has been classified as Green List (High Evidence).
Growth failure v2.9 EIF1AX Rylee Peters changed review comment from: PMID: 42337333 reports 4 hemizygous males from 4 families with de novo hemizygous EIF1AX missense variants presenting with an X-linked syndromic neurodevelopmental disorder characterised by global developmental delay, autistic behaviour, facial dysmorphism, short stature and brain imaging abnormalities (3/4). All variants are absent from gnomAD (v4).
Sources: Literature; to: PMID: 42337333 reports 4 hemizygous males from 4 families with de novo hemizygous EIF1AX missense variants presenting with an X-linked syndromic neurodevelopmental disorder characterised by global developmental delay, autistic behaviour, facial dysmorphism, short stature (<3SD in 3/4) and brain imaging abnormalities (3/4). All variants are absent from gnomAD (v4).
Sources: Literature
Growth failure v2.9 Rylee Peters Copied gene EIF1AX from panel Mendeliome
Growth failure v2.9 EIF1AX Rylee Peters gene: EIF1AX was added
gene: EIF1AX was added to Growth failure. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EIF1AX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF1AX were set to 42337333
Phenotypes for gene: EIF1AX were set to Neurodevelopmental disorder, MONDO:0700092, EIF1AX-related
Intellectual disability syndromic and non-syndromic v2.32 EIF1AX Rylee Peters Marked gene: EIF1AX as ready
Intellectual disability syndromic and non-syndromic v2.32 EIF1AX Rylee Peters Gene: eif1ax has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.32 Rylee Peters Copied gene EIF1AX from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.32 EIF1AX Rylee Peters gene: EIF1AX was added
gene: EIF1AX was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EIF1AX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF1AX were set to 42337333
Phenotypes for gene: EIF1AX were set to Neurodevelopmental disorder, MONDO:0700092, EIF1AX-related
Mendeliome v2.204 EIF1AX Rylee Peters Marked gene: EIF1AX as ready
Mendeliome v2.204 EIF1AX Rylee Peters Gene: eif1ax has been classified as Green List (High Evidence).
Mendeliome v2.204 EIF1AX Rylee Peters Classified gene: EIF1AX as Green List (high evidence)
Mendeliome v2.204 EIF1AX Rylee Peters Gene: eif1ax has been classified as Green List (High Evidence).
Mendeliome v2.203 EIF1AX Rylee Peters gene: EIF1AX was added
gene: EIF1AX was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF1AX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF1AX were set to 42337333
Phenotypes for gene: EIF1AX were set to Neurodevelopmental disorder, MONDO:0700092, EIF1AX-related
Review for gene: EIF1AX was set to GREEN
Added comment: PMID: 42337333 reports 4 hemizygous males from 4 families with de novo hemizygous EIF1AX missense variants presenting with an X-linked syndromic neurodevelopmental disorder characterised by global developmental delay, autistic behaviour, facial dysmorphism, short stature and brain imaging abnormalities (3/4). All variants are absent from gnomAD (v4).
Sources: Literature
Infertility and Recurrent Pregnancy Loss v2.13 HENMT1 Rylee Peters Marked gene: HENMT1 as ready
Infertility and Recurrent Pregnancy Loss v2.13 HENMT1 Rylee Peters Gene: henmt1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v2.13 Rylee Peters Copied gene HENMT1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.13 HENMT1 Rylee Peters gene: HENMT1 was added
gene: HENMT1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HENMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HENMT1 were set to 39318356; 39120570; 35172124
Phenotypes for gene: HENMT1 were set to Spermatogenic failure, MONDO:0004983, HENMT1-related
Mendeliome v2.202 HENMT1 Rylee Peters Marked gene: HENMT1 as ready
Mendeliome v2.202 HENMT1 Rylee Peters Gene: henmt1 has been classified as Green List (High Evidence).
Mendeliome v2.202 HENMT1 Rylee Peters Classified gene: HENMT1 as Green List (high evidence)
Mendeliome v2.202 HENMT1 Rylee Peters Gene: henmt1 has been classified as Green List (High Evidence).
Mendeliome v2.201 HENMT1 Rylee Peters gene: HENMT1 was added
gene: HENMT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HENMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HENMT1 were set to 39318356; 39120570; 35172124
Phenotypes for gene: HENMT1 were set to Spermatogenic failure, MONDO:0004983, HENMT1-related
Review for gene: HENMT1 was set to GREEN
Added comment: Five families with autosomal recessive HENMT1 variants present with male infertility, ranging from non‑obstructive azoospermia to severe oligo‑astheno‑teratozoospermia with spermatogenic arrest. Functional studies reveal absent HENMT1 protein in patient sperm and mouse models recapitulating the infertile phenotype.
Sources: Literature
Mendeliome v2.200 CRELD1 Zornitza Stark Mode of inheritance for gene: CRELD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.199 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.7 CRELD1 Zornitza Stark Classified gene: CRELD1 as Red List (low evidence)
Fetal anomalies v2.7 CRELD1 Zornitza Stark Gene: creld1 has been classified as Red List (Low Evidence).
Fetal anomalies v2.6 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed rating: RED
Heterotaxy v2.2 CRELD1 Zornitza Stark Classified gene: CRELD1 as Red List (low evidence)
Heterotaxy v2.2 CRELD1 Zornitza Stark Gene: creld1 has been classified as Red List (Low Evidence).
Heterotaxy v2.1 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed rating: RED
Genetic Epilepsy v2.20 GSK3B Rylee Peters Marked gene: GSK3B as ready
Genetic Epilepsy v2.20 GSK3B Rylee Peters Gene: gsk3b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v2.20 GSK3B Rylee Peters Classified gene: GSK3B as Amber List (moderate evidence)
Genetic Epilepsy v2.20 GSK3B Rylee Peters Gene: gsk3b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v2.19 GSK3B Rylee Peters gene: GSK3B was added
gene: GSK3B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GSK3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSK3B were set to 39472663
Phenotypes for gene: GSK3B were set to Neurodevelopmental disorder, MONDO:0700092, GSK3B-related
Review for gene: GSK3B was set to AMBER
Added comment: PMID: 39472663 reports >10 individuals with heterozygous loss‑of‑function GSK3B variants (stopgain, frameshift, splice, missense, CNV) causing a neurodevelopmental disorder characterised by autism spectrum disorder (8/13), intellectual disability (mild-severe 11/14), speech (14/15) and motor delay (8/13) as well as epilepsy 2/12, seizure 2/13.
Sources: Literature
Retinitis pigmentosa v1.5 CRB1 Zornitza Stark Marked gene: CRB1 as ready
Retinitis pigmentosa v1.5 CRB1 Zornitza Stark Gene: crb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.31 GSK3B Rylee Peters Marked gene: GSK3B as ready
Intellectual disability syndromic and non-syndromic v2.31 GSK3B Rylee Peters Gene: gsk3b has been classified as Green List (High Evidence).
Autism v1.7 GSK3B Rylee Peters Marked gene: GSK3B as ready
Autism v1.7 GSK3B Rylee Peters Gene: gsk3b has been classified as Green List (High Evidence).
Retinitis pigmentosa v1.5 CRB1 Zornitza Stark Phenotypes for gene: CRB1 were changed from Pigmented paravenous chorioretinal atrophy, 172870; Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105 to Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105
Intellectual disability syndromic and non-syndromic v2.31 Rylee Peters Copied gene GSK3B from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.31 GSK3B Rylee Peters gene: GSK3B was added
gene: GSK3B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GSK3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSK3B were set to 39472663
Phenotypes for gene: GSK3B were set to Neurodevelopmental disorder, MONDO:0700092, GSK3B-related
Retinitis pigmentosa v1.4 CRB1 Zornitza Stark Publications for gene: CRB1 were set to
Autism v1.7 Rylee Peters Copied gene GSK3B from panel Mendeliome
Autism v1.7 GSK3B Rylee Peters gene: GSK3B was added
gene: GSK3B was added to Autism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GSK3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSK3B were set to 39472663
Phenotypes for gene: GSK3B were set to Neurodevelopmental disorder, MONDO:0700092, GSK3B-related
Mendeliome v2.199 CRB1 Zornitza Stark Publications for gene: CRB1 were set to 30285347; 32922261; 31884620; 15459956
Mendeliome v2.198 GSK3B Rylee Peters Marked gene: GSK3B as ready
Mendeliome v2.198 GSK3B Rylee Peters Gene: gsk3b has been classified as Green List (High Evidence).
Mendeliome v2.198 CRB1 Zornitza Stark Mode of inheritance for gene: CRB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.197 GSK3B Rylee Peters reviewed gene: GSK3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 39472663; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, GSK3B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.197 GSK3B Rylee Peters Deleted their review
Mendeliome v2.197 GSK3B Rylee Peters Publications for gene: GSK3B were set to 39472663; 37588225
Mendeliome v2.196 GSK3B Rylee Peters Classified gene: GSK3B as Green List (high evidence)
Mendeliome v2.196 GSK3B Rylee Peters Gene: gsk3b has been classified as Green List (High Evidence).
Mendeliome v2.195 GSK3B Rylee Peters gene: GSK3B was added
gene: GSK3B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GSK3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSK3B were set to 39472663; 37588225
Phenotypes for gene: GSK3B were set to Neurodevelopmental disorder, MONDO:0700092, GSK3B-related
Review for gene: GSK3B was set to GREEN
Added comment: PMID: 39472663 reports >10 individuals with heterozygous loss‑of‑function GSK3B variants (stopgain, frameshift, splice, missense, CNV) causing a neurodevelopmental disorder characterised by autism spectrum disorder (8/13), intellectual disability (mild-severe 11/14), speech (14/15) and motor delay (8/13). Mouse Gsk3b knock‑down phenotypes are rescued by wild‑type GSK3B but not by patient missense variants.
Sources: Literature
Mendeliome v2.194 ARR3 Zornitza Stark Publications for gene: ARR3 were set to 27829781; 35001458
Mendeliome v2.193 ARR3 Zornitza Stark Mode of inheritance for gene: ARR3 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v2.192 ARR3 Zornitza Stark reviewed gene: ARR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35001458, 37795829, 36964802, 37268727, 32215939, 36180177, 38789272, 42326764, 38517428, 38958970, 41631463, 39420435, 39495751, 34966409, 36769483; Phenotypes: Myopia 26, X-linked, female-limited MIM#301010; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v2.30 Sarah Milton Copied gene USP34 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.30 USP34 Sarah Milton gene: USP34 was added
gene: USP34 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: USP34 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP34 were set to 42315110; 39117575
Phenotypes for gene: USP34 were set to Neurodevelopmental disorder, MONDO:0700092-USP34 related
Autism v1.6 Sarah Milton Copied gene USP34 from panel Mendeliome
Autism v1.6 USP34 Sarah Milton gene: USP34 was added
gene: USP34 was added to Autism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: USP34 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP34 were set to 42315110; 39117575
Phenotypes for gene: USP34 were set to Neurodevelopmental disorder, MONDO:0700092-USP34 related
Mendeliome v2.192 USP34 Sarah Milton Classified gene: USP34 as Green List (high evidence)
Mendeliome v2.192 USP34 Sarah Milton Gene: usp34 has been classified as Green List (High Evidence).
Mendeliome v2.192 USP34 Sarah Milton Classified gene: USP34 as Green List (high evidence)
Mendeliome v2.192 USP34 Sarah Milton Gene: usp34 has been classified as Green List (High Evidence).
Mendeliome v2.191 USP34 Sarah Milton gene: USP34 was added
gene: USP34 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: USP34 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP34 were set to 42315110; 39117575
Phenotypes for gene: USP34 were set to Neurodevelopmental disorder, MONDO:0700092-USP34 related
Review for gene: USP34 was set to GREEN
Added comment: USP34 encodes a deubiquitinating enzyme that stabilises Axin and positively regulates canonical Wnt/β‑catenin signalling. The gene lies within a known recurrent deletional syndrome - 2p15p16.1 region, ISCA-37408.

PMID: 42315110 reports six unrelated individuals with heterozygous de novo loss‑of‑function USP34 variants presenting with a neurodevelopmental disorder characterised by global developmental delay, speech impairment and autism.
USP34 is highly constrained for loss of function with few NMD predicted variants present in the population database gnomAD.

PMID: 39117575 reports a de novo heterozygous NMD predicted variant in USP34 in a fetus diagnosed with agenesis of the corpus callosum, as of 3 years of age the child had normal development. No other contradictory evidence has been published.
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.29 Sarah Milton Copied gene MED20 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.29 MED20 Sarah Milton gene: MED20 was added
gene: MED20 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MED20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED20 were set to 25446406; 10.21203/rs.3.rs-9516499/v1
Phenotypes for gene: MED20 were set to Neurodevelopmental disorder, MONDO:0700092, MED20-related
Mendeliome v2.190 MED20 Sarah Milton Classified gene: MED20 as Amber List (moderate evidence)
Mendeliome v2.190 MED20 Sarah Milton Gene: med20 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.189 MED20 Sarah Milton gene: MED20 was added
gene: MED20 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MED20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED20 were set to 25446406; 10.21203/rs.3.rs-9516499/v1
Phenotypes for gene: MED20 were set to Neurodevelopmental disorder, MONDO:0700092, MED20-related
Review for gene: MED20 was set to AMBER
Added comment: MED20 is part of a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators. Many other MED proteins have been associated with disease.

PMID 25446406 reports 2 individuals from 1 family with a homozygous missense variant presenting with a neurodevelopmental disorder characterised by spasticity, dystonia, basal ganglia degeneration and cerebral‑cerebellar atrophy.

A pre print was published online April 2026 reporting 8 affected individuals from 4 families (including the published family above) with a neurodevelopmental disorder presenting with intellectual disability, brain atrophy, dystonia, cataract and seizures.
Functional studies support the loss of function nature of the variants observed in affected individuals. https://www.researchgate.net/publication/405839650_MED20_biallelic_pathogenic_variants_cause_a_neurodevelopmental_disorder_altering_both_transcription_activity_and_Transcription-Coupled_Repair_pathway

The association remains limited given this publication is not yet peer reviewed.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v2.12 Sangavi Sivagnanasundram Copied gene ITPRID2 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.12 ITPRID2 Sangavi Sivagnanasundram gene: ITPRID2 was added
gene: ITPRID2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: ITPRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPRID2 were set to 41802982; 35836265
Phenotypes for gene: ITPRID2 were set to ITPRID2-related severe asthenoteratozoospermia, globozoospermia and acrosome defects MONDO:0005372
Mendeliome v2.188 ITPRID2 Sangavi Sivagnanasundram gene: ITPRID2 was added
gene: ITPRID2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ITPRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPRID2 were set to 41802982; 35836265
Phenotypes for gene: ITPRID2 were set to ITPRID2-related severe asthenoteratozoospermia, globozoospermia and acrosome defects MONDO:0005372
Review for gene: ITPRID2 was set to AMBER
Added comment: PMID 41802982 and PMID 35836265 report a total of 4 individuals with biallelic ITPRID2 variants causing autosomal recessive male infertility characterised by severe asthenoteratozoospermia, globozoospermia and acrosome defects.

Two of the reported individuals carried the same compound heterozygous variant which are rare in gnomAD v4.1 however, these individuals presented with different phenotypic features (one was phenotypically severe and the other normal)

There is no Morbid gene-disease association in OMIM for this gene yet. There are no pathogenic variants reported in ClinVar either. The gene is also known as SSFA2 in the literature.

Given only two of the reported cases are fully supportive of this gene-disease association, the gene is to remain as AMBER until further evidence is published.
Sources: Literature
Dystonia and Chorea v1.5 KLC1 Sangavi Sivagnanasundram Classified gene: KLC1 as Green List (high evidence)
Dystonia and Chorea v1.5 KLC1 Sangavi Sivagnanasundram Gene: klc1 has been classified as Green List (High Evidence).
Mendeliome v2.187 KLC1 Sangavi Sivagnanasundram Classified gene: KLC1 as Green List (high evidence)
Mendeliome v2.187 KLC1 Sangavi Sivagnanasundram Gene: klc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.28 KLC1 Sangavi Sivagnanasundram Classified gene: KLC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v2.28 KLC1 Sangavi Sivagnanasundram Gene: klc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.27 KLC1 Sangavi Sivagnanasundram changed review comment from: 7 individuals reported with rare missense variants in KLC1 in individuals affected with a neurodevelopmental disorder characterised by dystonia, spasticity, ID and DD.
Sources: Literature; to: 5 of the 7 individuals reported with rare missense variants in KLC1 in individuals affected with a neurodevelopmental disorder characterised by dystonia, spasticity, ID and DD.
Sources: Literature
Dystonia and Chorea v1.4 KLC1 Sangavi Sivagnanasundram changed review comment from: 7 individuals reported with rare missense variants in KLC1 in individuals affected with a neurodevelopmental disorder characterised by dystonia, spasticity, ID and DD.
Sources: Literature; to: 7 individuals reported with rare missense variants in KLC1 in individuals affected with a neurodevelopmental disorder characterised by dystonia, spasticity, ID and DD.
3 of the affected individuals presented with early-onset dystonia.
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.27 Sangavi Sivagnanasundram Copied gene KLC1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.27 KLC1 Sangavi Sivagnanasundram gene: KLC1 was added
gene: KLC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLC1 were set to 42372486
Phenotypes for gene: KLC1 were set to KLC1-related neurodevelopmental disorder, MONDO:0700092
Dystonia and Chorea v1.4 Sangavi Sivagnanasundram Copied gene KLC1 from panel Mendeliome
Dystonia and Chorea v1.4 KLC1 Sangavi Sivagnanasundram gene: KLC1 was added
gene: KLC1 was added to Dystonia and Chorea. Sources: Literature
Mode of inheritance for gene: KLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLC1 were set to 42372486
Phenotypes for gene: KLC1 were set to KLC1-related neurodevelopmental disorder, MONDO:0700092
Mendeliome v2.186 KLC1 Sangavi Sivagnanasundram gene: KLC1 was added
gene: KLC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLC1 were set to 42372486
Phenotypes for gene: KLC1 were set to KLC1-related neurodevelopmental disorder, MONDO:0700092
Review for gene: KLC1 was set to GREEN
Added comment: 7 individuals reported with rare missense variants in KLC1 in individuals affected with a neurodevelopmental disorder characterised by dystonia, spasticity, ID and DD.
Sources: Literature
Mendeliome v2.185 ATG9B Sarah Milton gene: ATG9B was added
gene: ATG9B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATG9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG9B were set to 42353819
Phenotypes for gene: ATG9B were set to Neurodevelopmental disorder, MONDO:0700092, ATG9B-related
Review for gene: ATG9B was set to RED
Added comment: ATG9B encodes autophagy 9B related protein and is mostly expressed in the placenta.

PMID 42353819 reports five individuals from three consanguineous families with biallelic loss-of-function/missense variants in ATG9B variants presenting with a variable neurodevelopmental features.

Functional studies with a mouse knock‑in model display no obvious developmental issues, were fertile and had offspring with no bias against homozygous LOF ATG9B variants.

Some homozygous loss of function variants are present in gnomAD v4 and given there isn't yet evidence this protein is expressed more widely outside the placenta this requires further publications to support the gene disease association.
Sources: Literature
Microcephaly v2.7 Sarah Milton Copied gene GIT1 from panel Mendeliome
Microcephaly v2.7 GIT1 Sarah Milton gene: GIT1 was added
gene: GIT1 was added to Microcephaly. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIT1 were set to 42360756
Phenotypes for gene: GIT1 were set to Neurodevelopmental disorder, MONDO:0700092, GIT1-related
Intellectual disability syndromic and non-syndromic v2.26 Sarah Milton Copied gene GIT1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.26 GIT1 Sarah Milton gene: GIT1 was added
gene: GIT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIT1 were set to 42360756
Phenotypes for gene: GIT1 were set to Neurodevelopmental disorder, MONDO:0700092, GIT1-related
Growth failure v2.8 Sarah Milton Copied gene GIT1 from panel Mendeliome
Growth failure v2.8 GIT1 Sarah Milton gene: GIT1 was added
gene: GIT1 was added to Growth failure. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIT1 were set to 42360756
Phenotypes for gene: GIT1 were set to Neurodevelopmental disorder, MONDO:0700092, GIT1-related
Genetic Epilepsy v2.18 Sarah Milton Copied gene GIT1 from panel Mendeliome
Genetic Epilepsy v2.18 GIT1 Sarah Milton gene: GIT1 was added
gene: GIT1 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIT1 were set to 42360756
Phenotypes for gene: GIT1 were set to Neurodevelopmental disorder, MONDO:0700092, GIT1-related
Mendeliome v2.184 GIT1 Sarah Milton Classified gene: GIT1 as Green List (high evidence)
Mendeliome v2.184 GIT1 Sarah Milton Gene: git1 has been classified as Green List (High Evidence).
Mendeliome v2.183 GIT1 Sarah Milton gene: GIT1 was added
gene: GIT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIT1 were set to 42360756
Phenotypes for gene: GIT1 were set to Neurodevelopmental disorder, MONDO:0700092, GIT1-related
Review for gene: GIT1 was set to GREEN
Added comment: GIT1 encodes G-protein-coupled receptor kinase-interacting protein 1 which is a scaffold protein that plays roles in the actin cytoskeletal dynamics, focal adhesion assembly, membrane trafficking, intracellular signalling and neuronal development.

PMID 42360756 reports nine individuals from three families with biallelic loss-of-function GIT1 variants presenting with microcephaly, severe developmental delay/intellectual disability, seizures, enlarged ventricles and variable other congenital brain anomalies, facial dysmorphism and intrauterine growth restriction/poor growth.
2 of the families had a shared haplotype and the same homozygous variant with the third family unrelated with a different loss of function variant.

GIT1 is constrained for loss of function in gnomAD v4, there are no homozygous loss of function individuals present.

Extensive functional studies support the association with zebrafish knock‑down recapitulates microcephaly and is rescued by wild‑type human GIT1 mRNA but not mRNA containing variants from affected patients, knockout mice have microcephaly and developmental delay, patient fibroblasts lack GIT1 protein and show reduced actin‑cytoskeleton dynamics.
Sources: Literature
Genomic newborn screening: BabyScreen+ v2.0 GLDC TRAIL SCHN commented on gene: GLDC
Genomic newborn screening: BabyScreen+ v2.0 FLG TRAIL SCHN commented on gene: FLG
Genomic newborn screening: BabyScreen+ v2.0 TSC2 TRAIL SCHN commented on gene: TSC2
Genomic newborn screening: BabyScreen+ v2.0 TSC1 TRAIL SCHN commented on gene: TSC1
Genomic newborn screening: BabyScreen+ v2.0 DMD TRAIL SCHN commented on gene: DMD
Genomic newborn screening: BabyScreen+ v2.0 AMT TRAIL SCHN commented on gene: AMT
Genomic newborn screening: BabyScreen+ v2.0 FBN1 TRAIL SCHN commented on gene: FBN1
Genomic newborn screening: BabyScreen+ v2.0 MAT1A TRAIL SCHN commented on gene: MAT1A
Genomic newborn screening: BabyScreen+ v2.0 NPC2 TRAIL SCHN commented on gene: NPC2
Genomic newborn screening: BabyScreen+ v2.0 NPC1 TRAIL SCHN commented on gene: NPC1
Genomic newborn screening: BabyScreen+ v2.0 CLPP TRAIL SCHN commented on gene: CLPP
Genomic newborn screening: BabyScreen+ v2.0 CALM3 TRAIL SCHN changed review comment from: Please tag as "Not included in TRAIL Study"

Rationale: Not enough information ; to: Please tag as "Not included in TRAIL Study"

Rationale: Not enough information on age of onset
Genomic newborn screening: BabyScreen+ v2.0 CALM2 TRAIL SCHN changed review comment from: Please tag as "Not included in TRAIL Study"

Rationale: Not enough information; to: Please tag as "Not included in TRAIL Study"

Rationale: Not enough information on age of onset
Genomic newborn screening: BabyScreen+ v2.0 CALM1 TRAIL SCHN changed review comment from: Please tag as "Not included in TRAIL Study"

Rationale: Not enough information ; to: Please tag as "Not included in TRAIL Study"

Rationale: Not enough information on age of onset
Genomic newborn screening: BabyScreen+ v2.0 SCN5A TRAIL SCHN commented on gene: SCN5A
Genomic newborn screening: BabyScreen+ v2.0 CALM3 TRAIL SCHN changed review comment from: Please tag as "Not included in TRAIL Study"; to: Please tag as "Not included in TRAIL Study"

Rationale: Not enough information
Genomic newborn screening: BabyScreen+ v2.0 CALM1 TRAIL SCHN changed review comment from: Please tag as "Not included in TRAIL Study"; to: Please tag as "Not included in TRAIL Study"

Rationale: Not enough information
Genomic newborn screening: BabyScreen+ v2.0 CALM2 TRAIL SCHN changed review comment from: Please tag as "Not included in TRAIL Study"; to: Please tag as "Not included in TRAIL Study"

Rationale: Not enough information
Genomic newborn screening: BabyScreen+ v2.0 CALM3 TRAIL SCHN commented on gene: CALM3
Genomic newborn screening: BabyScreen+ v2.0 CALM2 TRAIL SCHN commented on gene: CALM2
Genomic newborn screening: BabyScreen+ v2.0 CALM1 TRAIL SCHN commented on gene: CALM1
Genomic newborn screening: BabyScreen+ v2.0 SAMD9 TRAIL SCHN commented on gene: SAMD9
Genomic newborn screening: BabyScreen+ v2.0 RYR1 TRAIL SCHN commented on gene: RYR1
Genomic newborn screening: BabyScreen+ v2.0 ACVRL1 TRAIL SCHN commented on gene: ACVRL1
Genomic newborn screening: BabyScreen+ v2.0 ENG TRAIL SCHN commented on gene: ENG
Genomic newborn screening: BabyScreen+ v2.0 PSAT1 TRAIL SCHN commented on gene: PSAT1
Genomic newborn screening: BabyScreen+ v2.0 PDSS2 TRAIL SCHN commented on gene: PDSS2
Genomic newborn screening: BabyScreen+ v2.0 PHGDH TRAIL SCHN commented on gene: PHGDH
Genomic newborn screening: BabyScreen+ v2.0 GATA3 TRAIL SCHN commented on gene: GATA3
Genomic newborn screening: BabyScreen+ v2.0 MESD TRAIL SCHN commented on gene: MESD
Genomic newborn screening: BabyScreen+ v2.0 P3H1 TRAIL SCHN commented on gene: P3H1
Genomic newborn screening: BabyScreen+ v2.0 DMP1 TRAIL SCHN commented on gene: DMP1
Genomic newborn screening: BabyScreen+ v2.0 FKBP10 TRAIL SCHN commented on gene: FKBP10
Genomic newborn screening: BabyScreen+ v2.0 KDELR2 TRAIL SCHN commented on gene: KDELR2
Genomic newborn screening: BabyScreen+ v2.0 LRP5 TRAIL SCHN commented on gene: LRP5
Genomic newborn screening: BabyScreen+ v2.0 CRTAP TRAIL SCHN commented on gene: CRTAP
Genomic newborn screening: BabyScreen+ v2.0 COL1A2 TRAIL SCHN commented on gene: COL1A2
Genomic newborn screening: BabyScreen+ v2.0 COL1A1 TRAIL SCHN commented on gene: COL1A1
Genomic newborn screening: BabyScreen+ v2.0 CARD11 TRAIL SCHN commented on gene: CARD11
Genomic newborn screening: BabyScreen+ v2.0 C2 TRAIL SCHN commented on gene: C2
Genomic newborn screening: BabyScreen+ v2.0 ALPL TRAIL SCHN commented on gene: ALPL
Genomic newborn screening: BabyScreen+ v2.0 PHEX TRAIL SCHN commented on gene: PHEX
Genomic newborn screening: BabyScreen+ v2.0 CHRND TRAIL SCHN commented on gene: CHRND
Genomic newborn screening: BabyScreen+ v2.0 COL13A1 TRAIL SCHN commented on gene: COL13A1
Genomic newborn screening: BabyScreen+ v2.0 SGCB TRAIL SCHN commented on gene: SGCB
Genomic newborn screening: BabyScreen+ v2.0 AGRN TRAIL SCHN commented on gene: AGRN
Genomic newborn screening: BabyScreen+ v2.0 GOT2 TRAIL SCHN commented on gene: GOT2
Genomic newborn screening: BabyScreen+ v2.0 SCN1A TRAIL SCHN commented on gene: SCN1A
Genomic newborn screening: BabyScreen+ v2.0 MECP2 TRAIL SCHN commented on gene: MECP2
Genomic newborn screening: BabyScreen+ v2.0 DHCR7 TRAIL SCHN commented on gene: DHCR7
Genomic newborn screening: BabyScreen+ v2.0 ATP7A TRAIL SCHN commented on gene: ATP7A
Genomic newborn screening: BabyScreen+ v2.0 SORD TRAIL SCHN changed review comment from: Please tag as "Not included in TRAIL Study"; to: Please tag as "Not included in TRAIL Study"

Rationale: No cure
Genomic newborn screening: BabyScreen+ v2.0 SORD TRAIL SCHN commented on gene: SORD
Genomic newborn screening: BabyScreen+ v2.0 PMP22 TRAIL SCHN commented on gene: PMP22
Genomic newborn screening: BabyScreen+ v2.0 CACNA1S TRAIL SCHN changed review comment from: Please tag as "Not included in TRAIL Study"

Rationale: Age of onset beyond scope of TRAIL; to: Please tag as "Not included in TRAIL Study"
Genomic newborn screening: BabyScreen+ v2.0 CACNA1S TRAIL SCHN commented on gene: CACNA1S
Genomic newborn screening: BabyScreen+ v2.0 UMPS TRAIL SCHN commented on gene: UMPS
Genomic newborn screening: BabyScreen+ v2.0 ALDH4A1 TRAIL SCHN commented on gene: ALDH4A1
Genomic newborn screening: BabyScreen+ v2.0 ACTG2 TRAIL SCHN commented on gene: ACTG2
Genomic newborn screening: BabyScreen+ v2.0 DMPK TRAIL SCHN commented on gene: DMPK
Genomic newborn screening: BabyScreen+ v2.0 FXN TRAIL SCHN commented on gene: FXN
Genomic newborn screening: BabyScreen+ v2.0 EFL1 TRAIL SCHN commented on gene: EFL1
Genomic newborn screening: BabyScreen+ v2.0 CDH23 TRAIL SCHN commented on gene: CDH23
Genomic newborn screening: BabyScreen+ v2.0 PCDH15 TRAIL SCHN commented on gene: PCDH15
Genomic newborn screening: BabyScreen+ v2.0 CYP21A2 TRAIL SCHN commented on gene: CYP21A2
Growth failure v2.7 KMT2C chirag patel Marked gene: KMT2C as ready
Growth failure v2.7 KMT2C chirag patel Gene: kmt2c has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v2.3 KMT2C chirag patel Marked gene: KMT2C as ready
Deafness_IsolatedAndComplex v2.3 KMT2C chirag patel Gene: kmt2c has been classified as Green List (High Evidence).
Growth failure v2.7 KMT2C chirag patel reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 39013459; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KMT2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v2.3 KMT2C chirag patel reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 39013459; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KMT2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v1.1 KMT2C chirag patel Marked gene: KMT2C as ready
Hypertrichosis syndromes v1.1 KMT2C chirag patel Gene: kmt2c has been classified as Green List (High Evidence).
Congenital Heart Defect v1.8 KMT2C chirag patel Marked gene: KMT2C as ready
Congenital Heart Defect v1.8 KMT2C chirag patel Gene: kmt2c has been classified as Green List (High Evidence).
Hypertrichosis syndromes v1.1 KMT2C chirag patel reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 39013459; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KMT2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v1.8 KMT2C chirag patel reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 39013459; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KMT2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v1.1 chirag patel Copied gene KMT2C from panel Mendeliome
Hypertrichosis syndromes v1.1 KMT2C chirag patel gene: KMT2C was added
gene: KMT2C was added to Hypertrichosis syndromes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2C were set to 39013459
Phenotypes for gene: KMT2C were set to Kleefstra syndrome 2, MIM#617768; Neurodevelopmental disorder, MONDO:0700092, KMT2C-related
Growth failure v2.7 chirag patel Copied gene KMT2C from panel Mendeliome
Growth failure v2.7 KMT2C chirag patel gene: KMT2C was added
gene: KMT2C was added to Growth failure. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2C were set to 39013459
Phenotypes for gene: KMT2C were set to Kleefstra syndrome 2, MIM#617768; Neurodevelopmental disorder, MONDO:0700092, KMT2C-related
Deafness_IsolatedAndComplex v2.3 chirag patel Copied gene KMT2C from panel Mendeliome
Deafness_IsolatedAndComplex v2.3 KMT2C chirag patel gene: KMT2C was added
gene: KMT2C was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2C were set to 39013459
Phenotypes for gene: KMT2C were set to Kleefstra syndrome 2, MIM#617768; Neurodevelopmental disorder, MONDO:0700092, KMT2C-related
Congenital Heart Defect v1.8 chirag patel Copied gene KMT2C from panel Mendeliome
Congenital Heart Defect v1.8 KMT2C chirag patel gene: KMT2C was added
gene: KMT2C was added to Congenital Heart Defect. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2C were set to 39013459
Phenotypes for gene: KMT2C were set to Kleefstra syndrome 2, MIM#617768; Neurodevelopmental disorder, MONDO:0700092, KMT2C-related
Genomic newborn screening: BabyScreen+ v2.0 RBM8A TRAIL SCHN commented on gene: RBM8A
Genomic newborn screening: BabyScreen+ v2.0 ANKRD26 TRAIL SCHN commented on gene: ANKRD26
Genomic newborn screening: BabyScreen+ v2.0 CDAN1 TRAIL SCHN commented on gene: CDAN1
Genomic newborn screening: BabyScreen+ v2.0 ATRX TRAIL SCHN commented on gene: ATRX
Genomic newborn screening: BabyScreen+ v2.0 SPTB TRAIL SCHN commented on gene: SPTB
Genomic newborn screening: BabyScreen+ v2.0 SPTA1 TRAIL SCHN commented on gene: SPTA1
Genomic newborn screening: BabyScreen+ v2.0 SLC4A1 TRAIL SCHN commented on gene: SLC4A1
Genomic newborn screening: BabyScreen+ v2.0 ANK1 TRAIL SCHN commented on gene: ANK1
Genomic newborn screening: BabyScreen+ v2.0 EPB42 TRAIL SCHN commented on gene: EPB42
Genomic newborn screening: BabyScreen+ v2.0 CDH1 TRAIL SCHN commented on gene: CDH1
Genomic newborn screening: BabyScreen+ v2.0 HIBCH TRAIL SCHN commented on gene: HIBCH
Genomic newborn screening: BabyScreen+ v2.0 GLA TRAIL SCHN commented on gene: GLA
Genomic newborn screening: BabyScreen+ v2.0 FH TRAIL SCHN commented on gene: FH
Genomic newborn screening: BabyScreen+ v2.0 UROS TRAIL SCHN commented on gene: UROS
Genomic newborn screening: BabyScreen+ v2.0 SAMD9L TRAIL SCHN commented on gene: SAMD9L
Genomic newborn screening: BabyScreen+ v2.0 FECH TRAIL SCHN commented on gene: FECH
Genomic newborn screening: BabyScreen+ v2.0 F7 TRAIL SCHN commented on gene: F7
Cardiomyopathy_Paediatric v1.41 CHKB Sarah Milton gene: CHKB was added
gene: CHKB was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 39465137; 34962344; 33623274; 27123443; 26067811; 25740612
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Review for gene: CHKB was set to GREEN
Added comment: PMID 26067811, PMID 34962344, PMID 25740612, PMID 27123443, PMID 39465137 and PMID 33623274 collectively report a number of individuals with biallelic loss‑of‑function CHKB variants causing megaconial congenital muscular dystrophy, frequently presenting with early‑onset dilated cardiomyopathy together with muscle weakness, developmental delay and ichthyosis.
Sources: Literature
Genomic newborn screening: BabyScreen+ v2.0 KCNH2 TRAIL SCHN Deleted their comment
Genomic newborn screening: BabyScreen+ v2.0 KCNH2 TRAIL SCHN commented on gene: KCNH2: Please tag as "Not included in TRAIL Study"

Rationale: Mean age of presentation for LQTS is 14 years.
Genomic newborn screening: BabyScreen+ v2.0 REST TRAIL SCHN commented on gene: REST
Genomic newborn screening: BabyScreen+ v2.0 PRKAR1A TRAIL SCHN commented on gene: PRKAR1A
Cardiomyopathy_Paediatric v1.40 ALG3 Sarah Milton Classified gene: ALG3 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.40 ALG3 Sarah Milton Gene: alg3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.39 ALG3 Sarah Milton gene: ALG3 was added
gene: ALG3 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 38917675; 31067009
Phenotypes for gene: ALG3 were set to ALG3-congenital disorder of glycosylation, MONDO:0010998
Review for gene: ALG3 was set to AMBER
Added comment: PMID 31067009 reports one ALG3-CDG patient with biallelic loss‑of‑function variants and hypertrophic cardiomyopathy. PMID 38917675 reports a patient with a homozygous ALG3 VUS and dilated cardiomyopathy.
Sources: Literature
Fetal anomalies v2.6 FSD1L Zornitza Stark Marked gene: FSD1L as ready
Fetal anomalies v2.6 FSD1L Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.1 FSD1L Zornitza Stark Marked gene: FSD1L as ready
Hereditary Spastic Paraplegia v2.1 FSD1L Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence).
Callosome v1.2 FSD1L Zornitza Stark Marked gene: FSD1L as ready
Callosome v1.2 FSD1L Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence).
Genetic Epilepsy v2.17 FSD1L Zornitza Stark Marked gene: FSD1L as ready
Genetic Epilepsy v2.17 FSD1L Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence).
Cerebral Palsy v2.1 FSD1L Zornitza Stark Marked gene: FSD1L as ready
Cerebral Palsy v2.1 FSD1L Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.1 Zornitza Stark Copied gene FSD1L from panel Intellectual disability syndromic and non-syndromic
Hereditary Spastic Paraplegia v2.1 FSD1L Zornitza Stark gene: FSD1L was added
gene: FSD1L was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Other
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098
Phenotypes for gene: FSD1L were set to Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643
Genetic Epilepsy v2.17 Zornitza Stark Copied gene FSD1L from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v2.17 FSD1L Zornitza Stark gene: FSD1L was added
gene: FSD1L was added to Genetic Epilepsy. Sources: Expert Review Green,Other
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098
Phenotypes for gene: FSD1L were set to Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643
Fetal anomalies v2.6 Zornitza Stark Copied gene FSD1L from panel Intellectual disability syndromic and non-syndromic
Fetal anomalies v2.6 FSD1L Zornitza Stark gene: FSD1L was added
gene: FSD1L was added to Fetal anomalies. Sources: Expert Review Green,Other
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098
Phenotypes for gene: FSD1L were set to Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643
Cerebral Palsy v2.1 Zornitza Stark Copied gene FSD1L from panel Intellectual disability syndromic and non-syndromic
Cerebral Palsy v2.1 FSD1L Zornitza Stark gene: FSD1L was added
gene: FSD1L was added to Cerebral Palsy. Sources: Expert Review Green,Other
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098
Phenotypes for gene: FSD1L were set to Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643
Callosome v1.2 Zornitza Stark Copied gene FSD1L from panel Intellectual disability syndromic and non-syndromic
Callosome v1.2 FSD1L Zornitza Stark gene: FSD1L was added
gene: FSD1L was added to Callosome. Sources: Expert Review Green,Other
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098
Phenotypes for gene: FSD1L were set to Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643
Intellectual disability syndromic and non-syndromic v2.25 FSD1L Zornitza Stark Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder, MONDO:0700092, FSD1L-related to Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643
Intellectual disability syndromic and non-syndromic v2.24 FSD1L Zornitza Stark Publications for gene: FSD1L were set to
Intellectual disability syndromic and non-syndromic v2.23 FSD1L Zornitza Stark reviewed gene: FSD1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 41720098; Phenotypes: Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.182 FSD1L Zornitza Stark Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder, MONDO:0700092, FSD1L-related to Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643
Mendeliome v2.181 FSD1L Zornitza Stark Publications for gene: FSD1L were set to
Mendeliome v2.180 FSD1L Zornitza Stark edited their review of gene: FSD1L: Added comment: Now published, 11 probands from 6 families reported. Key clinical features include severe intellectual disability, spastic tetraparesis, reduced vision, and epilepsy, severe hydrocephalus, corpus callosum agenesis/hypoplasia, mild ventricular dilation, optic nerve hypoplasia, and white matter reduction.; Changed publications: 41720098
Mendeliome v2.180 FSD1L Zornitza Stark reviewed gene: FSD1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.180 HAO1 Zornitza Stark Phenotypes for gene: HAO1 were changed from to Glycolic aciduria, isolated, MIM# 621642
Mendeliome v2.179 HAO1 Zornitza Stark Publications for gene: HAO1 were set to
Mendeliome v2.178 HAO1 Zornitza Stark Mode of inheritance for gene: HAO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.177 HAO1 Zornitza Stark edited their review of gene: HAO1: Added comment: Isolated glycolic aciduria (GYCA) is characterized by markedly elevated urinary and plasma glycolate without further metabolic disease consequences. Two individuals reported, both with homozygous variants.; Changed publications: 24996905, 32207686; Changed phenotypes: Glycolic aciduria, isolated, MIM# 621642; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v2.10 HSPB1 Bryony Thompson Marked gene: HSPB1 as ready
Motor Neurone Disease v2.10 HSPB1 Bryony Thompson Gene: hspb1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v2.10 HSPB1 Bryony Thompson Classified gene: HSPB1 as Amber List (moderate evidence)
Motor Neurone Disease v2.10 HSPB1 Bryony Thompson Gene: hspb1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v2.9 HSPB1 Bryony Thompson gene: HSPB1 was added
gene: HSPB1 was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: HSPB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HSPB1 were set to 26768280; 27492805; 32334137
Phenotypes for gene: HSPB1 were set to amyotrophic lateral sclerosis MONDO:0004976
Review for gene: HSPB1 was set to AMBER
Added comment: HSPB1 variants are associated with distal hereditary motor neuropathy (dHMN).

HSPB1 variants reported in 3 sporadic cases (PMID 27492805, 32334137). Two missense more common than expected for AD disease in gnomAD and 1 frameshift variant at the end of the protein with functional analyses.

Homozygous HSPB1 variant is described in one consanguineous family (PMID 26768280) and segregates with ALS in 2 siblings. Heterozygous carriers are unaffected.
Sources: Literature
Motor Neurone Disease v2.8 Bryony Thompson removed gene:COQ7 from the panel
Hereditary Neuropathy v2.10 NRCAM Sangavi Sivagnanasundram gene: NRCAM was added
gene: NRCAM was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRCAM were set to 36606341; 35108495
Phenotypes for gene: NRCAM were set to neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MONDO:0859236
Review for gene: NRCAM was set to GREEN
Added comment: Multiple individuals have been reported with biallelic variants in this gene, which cause a complex neurodevelopmental phenotype with affected individuals presenting with a range of neuromuscular and skeletal abnormalities.
At least 3 unrelated families with different rare homozygous variants in NRCAM have been reported with peripheral neuropathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.38 SLC6A8 Lucy Spencer Classified gene: SLC6A8 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.38 SLC6A8 Lucy Spencer Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.37 SLC6A8 Lucy Spencer gene: SLC6A8 was added
gene: SLC6A8 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 34050321
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1 MIM#300352
Review for gene: SLC6A8 was set to AMBER
Added comment: PMID 34050321 describe 2 individuals with creatine transporter deficiency and mild cardiomyopathy and state that a few more patients in their cohort have signed of 'developing cardiomyopathy' on ECG/echo.
Sources: Literature
Cardiomyopathy_Paediatric v1.36 PIGA Lucy Spencer Classified gene: PIGA as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.36 PIGA Lucy Spencer Gene: piga has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.35 PIGA Lucy Spencer gene: PIGA was added
gene: PIGA was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIGA were set to 32452540; 37489290
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868
Review for gene: PIGA was set to AMBER
Added comment: PMID 32452540 lists cardiomyopathy as a feature in 3 of their 76 patients with multiple congenital anomalies-hypotonia-seizures syndrome.

PMID 37489290 reports 4 unrelated patients with PIGA encephalopathy and DCM (1 overlaps with PMID 32452540). Also report a further 2 individuals with PIGA-related encephalopathy and left/right ventricular hypertrophy.
Sources: Literature
Hereditary Neuropathy v2.9 PIGB Sangavi Sivagnanasundram gene: PIGB was added
gene: PIGB was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Developmental and epileptic encephalopathy 80 MONDO:0032822
Review for gene: PIGB was set to GREEN
Added comment: PMID 31256876 reports 5 individuals from three families with biallelic PIGB variants (missense, nonsense and splice‑site variants) presenting with global developmental delay, infantile‑onset seizures, dysmorphic features and an axonal and demyelinating peripheral neuropathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.34 NEK8 Lucy Spencer Classified gene: NEK8 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.34 NEK8 Lucy Spencer Gene: nek8 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.33 NEK8 Lucy Spencer gene: NEK8 was added
gene: NEK8 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK8 were set to 26967905
Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2 MIM#615415
Review for gene: NEK8 was set to AMBER
Added comment: PMID 26967905 in a cohort of 5 families with recessive NEK8 ciliopathies 2 patients had HCM and or cardiac septal hyperplasia as part of a broader syndrome.
Sources: Literature
Cardiomyopathy_Paediatric v1.32 MTO1 Lucy Spencer Classified gene: MTO1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.32 MTO1 Lucy Spencer Gene: mto1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.31 MTO1 Lucy Spencer gene: MTO1 was added
gene: MTO1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTO1 were set to 29331171
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10 MIM#614702
Review for gene: MTO1 was set to GREEN
Added comment: PMID 29331171 describe HCM as the most common clinical feature at initial presentation in their cohort of 34 individuals with MTO1 deficiency. 15 patients had HCM at initial presentation, and over time it developed into a total of 27/34 patients with HCM.
Sources: Literature
Cardiomyopathy_Paediatric v1.30 MED12 Lucy Spencer Classified gene: MED12 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.30 MED12 Lucy Spencer Gene: med12 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.29 MED12 Lucy Spencer gene: MED12 was added
gene: MED12 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MED12 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: MED12 were set to 39045790
Phenotypes for gene: MED12 were set to Hardikar syndrome MIM#301068
Review for gene: MED12 was set to GREEN
Added comment: PMID 39045790 in a cohort of 10 individuals with Hardikar syndrome, 6 had cardiomyopathy all under 15 years old.
Sources: Literature
Hereditary Neuropathy v2.8 RNASEH1 Sangavi Sivagnanasundram gene: RNASEH1 was added
gene: RNASEH1 was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH1 were set to 28508084; 26094573
Phenotypes for gene: RNASEH1 were set to progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, MONDO:0014656
Review for gene: RNASEH1 was set to GREEN
Added comment: At least 4 unrelated individuals reported with biallelic variants in RNASEH1 presenting with PEO and neuropathy (sensory/motor neuropathy). Three of the reported individuals with neuropathy were confirmed via EMG.
Sources: Literature
Cardiomyopathy_Paediatric v1.28 MAP3K7 Lucy Spencer Classified gene: MAP3K7 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.28 MAP3K7 Lucy Spencer Gene: map3k7 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.27 MAP3K7 Lucy Spencer gene: MAP3K7 was added
gene: MAP3K7 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K7 were set to 35730652; 40814318; 40909427
Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome MIM#157800
Review for gene: MAP3K7 was set to GREEN
Added comment: PMID 35730652 in a cohort of 12 patients with cardiospondylocarpofacial syndrome, 4 had cardiomyopathy (HCM or DCM). 3 were very early onset, the 4th was an adult at the time of testing but unclear what the age of onset was.

PMID 40814318, 40909427 report a newborn and a 5yo with CSCF syndrome associated with severe early onset DCM.
Sources: Literature
Cardiomyopathy_Paediatric v1.26 FBN1 Lucy Spencer Phenotypes for gene: FBN1 were changed from MONDO:0007947 Marfan Syndrome to Marfan syndrome MIM#154700
Cardiomyopathy_Paediatric v1.25 FBN1 Lucy Spencer Publications for gene: FBN1 were set to PMID: 39900832; 24531548
Cardiomyopathy_Paediatric v1.24 FBN1 Lucy Spencer Classified gene: FBN1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.24 FBN1 Lucy Spencer Gene: fbn1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.23 FBN1 Lucy Spencer reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39379624; Phenotypes: Marfan syndrome MIM#154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v2.10 Lucy Spencer Copied gene SORBS2 from panel Mendeliome
Early-onset Dementia v2.10 SORBS2 Lucy Spencer gene: SORBS2 was added
gene: SORBS2 was added to Early-onset Dementia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SORBS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SORBS2 were set to 34099102; 32808564; 39912518; 31790498
Phenotypes for gene: SORBS2 were set to congenital heart disease MONDO:0005453, SORBS2-related; familial Alzheimer disease MONDO:0100087, SORBS2-related
Congenital Heart Defect v1.7 Lucy Spencer Copied gene SORBS2 from panel Mendeliome
Congenital Heart Defect v1.7 SORBS2 Lucy Spencer gene: SORBS2 was added
gene: SORBS2 was added to Congenital Heart Defect. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SORBS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SORBS2 were set to 34099102; 32808564; 39912518; 31790498
Phenotypes for gene: SORBS2 were set to congenital heart disease MONDO:0005453, SORBS2-related; familial Alzheimer disease MONDO:0100087, SORBS2-related
Mendeliome v2.177 SORBS2 Lucy Spencer Classified gene: SORBS2 as Amber List (moderate evidence)
Mendeliome v2.177 SORBS2 Lucy Spencer Gene: sorbs2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.176 SORBS2 Lucy Spencer gene: SORBS2 was added
gene: SORBS2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SORBS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SORBS2 were set to 34099102; 32808564; 39912518; 31790498
Phenotypes for gene: SORBS2 were set to congenital heart disease MONDO:0005453, SORBS2-related; familial Alzheimer disease MONDO:0100087, SORBS2-related
Review for gene: SORBS2 was set to AMBER
Added comment: PMID 34099102 reports that rare SORBS2 variants are enriched in a cohort of 300 CHD patients. In the supplementary data they report 11 variants in 21 individuals all missense and all present in gnomad most with over 10 hets 1 with 1 hom and 300 hets. Several of the patients had multiple variants of interest in multiple genes. Some functional evidence suggested a few of the missense variants causes protein aggregation. Amber for now

PMID 32808564 identified 2 patients with arrhythmogenic cardiomyopathy and SORBS2 canonical splice variants. Also did some mouse model studies.

PMID: 39912518 5 affected individuals from one family with Alzheimer’s disease and T189M in SORBS2 (T89M in gnomad, 16 hets no homs). Transgenic mice with this variant also showed cognitive decline and increased intraneuronal AB deposition in the cortex.

PMID: 31790498 reports one family with hypotrichosis and woolly hair and a missense in this gene. Not investigated

Amber for all associations
Sources: Literature
Hereditary Neuropathy v2.7 TOP3A Sangavi Sivagnanasundram gene: TOP3A was added
gene: TOP3A was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 37013609; 29290614; 36544354
Phenotypes for gene: TOP3A were set to progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MONDO:0020845
Review for gene: TOP3A was set to GREEN
Added comment: >4 unrelated individuals reported with biallelic TOP3A variants presenting with adult‑onset mitochondrial disease characterised by progressive external ophthalmoplegia, ptosis, myopathy, cardiomyopathy and axonal sensory‑motor neuropathy.
Sources: Literature
Incidentalome v1.7 UQCRC1 Sangavi Sivagnanasundram Phenotypes for gene: UQCRC1 were changed from Parkinsonism with polyneuropathy, MIM# 619279 to Parkinsonism with polyneuropathy, MONDO:0036193
Incidentalome v1.6 UQCRC1 Sangavi Sivagnanasundram Publications for gene: UQCRC1 were set to 33141179; 33248804
Incidentalome v1.5 UQCRC1 Sangavi Sivagnanasundram Classified gene: UQCRC1 as Green List (high evidence)
Incidentalome v1.5 UQCRC1 Sangavi Sivagnanasundram Gene: uqcrc1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.24 UQCRC1 Sangavi Sivagnanasundram Phenotypes for gene: UQCRC1 were changed from Parkinsonism with polyneuropathy, MIM# 619279 to Parkinsonism with polyneuropathy, MONDO:0036193
Early-onset Parkinson disease v3.23 UQCRC1 Sangavi Sivagnanasundram Publications for gene: UQCRC1 were set to 33141179; 33248804
Early-onset Parkinson disease v3.22 UQCRC1 Sangavi Sivagnanasundram Classified gene: UQCRC1 as Green List (high evidence)
Early-onset Parkinson disease v3.22 UQCRC1 Sangavi Sivagnanasundram Gene: uqcrc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.6 VPS13A Sangavi Sivagnanasundram gene: VPS13A was added
gene: VPS13A was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13A were set to 41030128
Phenotypes for gene: VPS13A were set to VPS13A-related neurodegenerative disease, MONDO:0008695
Review for gene: VPS13A was set to GREEN
Added comment: PMID 41030128 reports five families with biallelic variants presenting with a neuromuscular phenotype. All affected individuals presented with areflexia, a feature of peripheral neuropathy.
Sources: Literature
Hereditary Neuropathy v2.5 ZC4H2 Sangavi Sivagnanasundram gene: ZC4H2 was added
gene: ZC4H2 was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: ZC4H2 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: ZC4H2 were set to 40443119
Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, MONDO:0010758
Review for gene: ZC4H2 was set to GREEN
Added comment: PMID 40443119 reports five individuals with X‑linked ZC4H2 loss‑of‑function variants presenting with an early-onset complex phenotype including ID and neuropathy. The presence of neuropathy was confirmed via EMG.
Sources: Literature
Motor Neurone Disease v2.7 Bryony Thompson HPO terms changed from to Motor neuron atrophy, HP:0007373
List of related panels changed from to Motor neuron atrophy; HP:0007373
Mendeliome v2.175 ZMPSTE24 chirag patel Mode of inheritance for gene: ZMPSTE24 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.174 ZMPSTE24 chirag patel Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210, MONDO:0010143; Familial partial lipodystrophy, MONDO:0020088; monogenic diabetes, MONDO:0015967 to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210, MONDO:0010143; Familial partial lipodystrophy, MONDO:0020088; monogenic diabetes, MONDO:0015967
Mendeliome v2.173 ZMPSTE24 chirag patel Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143 to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210, MONDO:0010143; Familial partial lipodystrophy, MONDO:0020088; monogenic diabetes, MONDO:0015967
Mendeliome v2.172 ZMPSTE24 chirag patel Publications for gene: ZMPSTE24 were set to 11923874; 22718200; 29794150; 29208544; 12913070; 27410998; 27409638; 15937076; 16671095; 22718200; 29794150; 24169522
Monogenic Diabetes v1.13 ZMPSTE24 chirag patel Marked gene: ZMPSTE24 as ready
Monogenic Diabetes v1.13 ZMPSTE24 chirag patel Gene: zmpste24 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.13 ZMPSTE24 chirag patel Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, 608612 to Mandibuloacral dysplasia with type B lipodystrophy, 608612; Familial partial lipodystrophy, MONDO:0020088; monogenic diabetes, MONDO:0015967
Monogenic Diabetes v1.12 ZMPSTE24 chirag patel Publications for gene: ZMPSTE24 were set to 12913070; 15317753; 20034068; 16297189; 18435794
Monogenic Diabetes v1.11 ZMPSTE24 chirag patel Mode of inheritance for gene: ZMPSTE24 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v1.10 chirag patel Added reviews for gene ZMPSTE24 from panel Lipodystrophy_Lipoatrophy
Mendeliome v2.171 chirag patel Added reviews for gene ZMPSTE24 from panel Lipodystrophy_Lipoatrophy
Lipodystrophy_Lipoatrophy v2.4 ZMPSTE24 chirag patel Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074 to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074; Familial partial lipodystrophy, MONDO:0020088; monogenic diabetes, MONDO:0015967
Lipodystrophy_Lipoatrophy v2.3 ZMPSTE24 chirag patel Publications for gene: ZMPSTE24 were set to 11923874; 22718200; 29794150; 29208544; 12913070; 27410998
Lipodystrophy_Lipoatrophy v2.2 ZMPSTE24 chirag patel Mode of inheritance for gene: ZMPSTE24 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v2.1 ZMPSTE24 chirag patel reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: None; Publications: 27120622, 39993161; Phenotypes: Familial partial lipodystrophy, MONDO:0020088, monogenic diabetes, MONDO:0015967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.170 SLC19A2 chirag patel Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Diabetes mellitus, MONDO:0005015 to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Diabetes mellitus, MONDO:0005015
Mendeliome v2.169 SLC19A2 chirag patel Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Diabetes mellitus, MONDO:0005015
Mendeliome v2.168 SLC19A2 chirag patel Publications for gene: SLC19A2 were set to 10391221; 10978358; 14994241; 22369132; 35114785; 30833467
Mendeliome v2.167 SLC19A2 chirag patel Publications for gene: SLC19A2 were set to 10391221; 10978358
Mendeliome v2.166 chirag patel Added reviews for gene SLC19A2 from panel Monogenic Diabetes
Mendeliome v2.165 SLC19A2 chirag patel Mode of inheritance for gene: SLC19A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.164 chirag patel Added reviews for gene SLC19A2 from panel Monogenic Diabetes
Monogenic Diabetes v1.9 SLC19A2 chirag patel Phenotypes for gene: SLC19A2 were changed from thiamine-responsive megaloblastic anemia syndrome MONDO:0009575 to thiamine-responsive megaloblastic anemia syndrome MONDO:0009575; Diabetes mellitus, MONDO:0005015
Monogenic Diabetes v1.8 SLC19A2 chirag patel Publications for gene: SLC19A2 were set to 10391221; 14994241; 22369132; 35114785
Monogenic Diabetes v1.7 SLC19A2 chirag patel Mode of inheritance for gene: SLC19A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v1.6 SLC19A2 chirag patel reviewed gene: SLC19A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30833467; Phenotypes: Diabetes mellitus, MONDO:0005015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v1.6 PDX1 chirag patel Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1 - MIM#260370 (AR); Maturity-onset diabetes of the young type 4, MONDO:0011667 to Pancreatic agenesis 1 - MIM#260370 (AR); Maturity-onset diabetes of the young type 4, MONDO:0011667
Monogenic Diabetes v1.6 PDX1 chirag patel Phenotypes for gene: PDX1 were changed from maturity-onset diabetes of the young type 4 MONDO:0011667 to Pancreatic agenesis 1 - MIM#260370 (AR); Maturity-onset diabetes of the young type 4, MONDO:0011667
Mendeliome v2.163 PDX1 chirag patel Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1 - MIM#260370 (AR); MODY, type IV - MIM#606392(AD) to Pancreatic agenesis 1 - MIM#260370 (AR); Maturity-onset diabetes of the young type 4, MONDO:0011667
Mendeliome v2.162 PDX1 chirag patel Publications for gene: PDX1 were set to 9326926; 10545531; 10720084; 12970316; 20009086; 19496967
Mendeliome v2.161 chirag patel Added reviews for gene PDX1 from panel Monogenic Diabetes
Monogenic Diabetes v1.5 PDX1 chirag patel Publications for gene: PDX1 were set to 9326926; 10545531; 10720084; 12970316; 20009086; 19496967
Monogenic Diabetes v1.4 PDX1 chirag patel Mode of inheritance for gene: PDX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v1.3 PDX1 chirag patel reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41153735; Phenotypes: Maturity-onset diabetes of the young type 4, MONDO:0011667; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.160 chirag patel Added reviews for gene NFKB1 from panel Monogenic Diabetes
Mendeliome v2.160 chirag patel Added reviews for gene NFKB1 from panel Monogenic Diabetes
Monogenic Diabetes v1.3 NFKB1 chirag patel Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia to Monogenic diabetes, MONDO:0015967
Monogenic Diabetes v1.2 NFKB1 chirag patel Publications for gene: NFKB1 were set to 26279205; 32278790; 27022143; 7834752
Monogenic Diabetes v1.1 NFKB1 chirag patel edited their review of gene: NFKB1: Added comment: PMID 37104866 reports an individual with atypical diabetes and a rare splice‑site NFKB1 variant (c.1753‑1G>C). There is no segregation data or functional validation of the variant.; Changed publications: 37104866; Changed phenotypes: Monogenic diabetes, MONDO:0015967
Mendeliome v2.159 CNOT1 chirag patel Phenotypes for gene: CNOT1 were changed from Vissers-Bodmer syndrome, MIM#619033; Holoprosencephaly 12, with or without pancreatic agenesis; OMIM# 618500 to Vissers-Bodmer syndrome, MIM#619033; Holoprosencephaly 12, with or without pancreatic agenesis, OMIM# 618500
Mendeliome v2.158 LRP5 chirag patel Phenotypes for gene: LRP5 were changed from Exudative vitreoretinopathy 4, MIM# 601813; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 to Exudative vitreoretinopathy 4, MIM# 601813; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; Osteoporosis MONDO:0005298, LRP5-related
Mendeliome v2.157 LRP5 chirag patel Publications for gene: LRP5 were set to
Mendeliome v2.156 chirag patel Added reviews for gene LRP5 from panel Osteogenesis Imperfecta and Osteoporosis
Osteogenesis Imperfecta and Osteoporosis v2.5 LRP5 chirag patel Phenotypes for gene: LRP5 were changed from osteoporosis-pseudoglioma syndrome MONDO:0009820 to osteoporosis-pseudoglioma syndrome MONDO:0009820; Osteoporosis MONDO:0005298, LRP5-related
Osteogenesis Imperfecta and Osteoporosis v2.4 LRP5 chirag patel Publications for gene: LRP5 were set to 20034086
Osteogenesis Imperfecta and Osteoporosis v2.3 LRP5 chirag patel Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v2.2 LRP5 chirag patel reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30283887, 33939331, 28378289, 35276006, 37076969; Phenotypes: Osteoporosis MONDO:0005298, LRP5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.155 chirag patel Added reviews for gene MBTPS2 from panel Osteogenesis Imperfecta and Osteoporosis
Osteogenesis Imperfecta and Osteoporosis v2.2 MBTPS2 chirag patel Publications for gene: MBTPS2 were set to 27380894
Osteogenesis Imperfecta and Osteoporosis v2.1 MBTPS2 chirag patel Classified gene: MBTPS2 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v2.1 MBTPS2 chirag patel Gene: mbtps2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v2.0 MBTPS2 chirag patel reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37305034; Phenotypes: Osteogenesis imperfecta, type XIX, MIM# 301014; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v1.18 GNRHR chirag patel Phenotypes for gene: GNRHR were changed from Hypogonadotropic hypogonadism 7 without anosmia (146110); Isolated congenital growth hormone deficiency, MONDO:0000050 to Hypogonadotropic hypogonadism 7 without anosmia (146110); Isolated congenital growth hormone deficiency, MONDO:0000050
Pituitary hormone deficiency v1.17 GNRHR chirag patel Publications for gene: GNRHR were set to
Mendeliome v2.154 GNRHR chirag patel Publications for gene: GNRHR were set to 28348023; 9371856; 31231873; 42054264; 28525353; 30959475
Mendeliome v2.153 GNRHR chirag patel Publications for gene: GNRHR were set to 28348023; 9371856
Mendeliome v2.152 GNRHR chirag patel Phenotypes for gene: GNRHR were changed from Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110 to Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110; Isolated congenital growth hormone deficiency, MONDO:0000050
Pituitary hormone deficiency v1.16 GNRHR chirag patel Phenotypes for gene: GNRHR were changed from Hypogonadotropic hypogonadism 7 without anosmia (146110) to Hypogonadotropic hypogonadism 7 without anosmia (146110); Isolated congenital growth hormone deficiency, MONDO:0000050
Growth failure v2.6 GNRHR chirag patel Marked gene: GNRHR as ready
Growth failure v2.6 GNRHR chirag patel Gene: gnrhr has been classified as Green List (High Evidence).
Growth failure v2.6 GNRHR chirag patel Phenotypes for gene: GNRHR were changed from Hypogonadotropic hypogonadism 7 without anosmia (146110) to Isolated congenital growth hormone deficiency, MONDO:0000050
Growth failure v2.5 GNRHR chirag patel Publications for gene: GNRHR were set to
Mendeliome v2.151 chirag patel Added reviews for gene GNRHR from panel Pituitary hormone deficiency
Growth failure v2.4 chirag patel Copied gene GNRHR from panel Pituitary hormone deficiency
Growth failure v2.4 GNRHR chirag patel gene: GNRHR was added
gene: GNRHR was added to Growth failure. Sources: Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110)
Pituitary hormone deficiency v1.15 GNRHR chirag patel reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31231873, 42054264, 28525353, 30959475; Phenotypes: Isolated congenital growth hormone deficiency, MONDO:0000050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.150 chirag patel Added reviews for gene SEMA3E from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v1.14 chirag patel Added reviews for gene SEMA3E from panel Pituitary hormone deficiency
Differences of Sex Development v2.8 chirag patel Added reviews for gene SEMA3E from panel Pituitary hormone deficiency
Pituitary hormone deficiency v1.15 SEMA3E chirag patel reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: None; Publications: 37814704; Phenotypes: Hypogonadotropic hypogonadism, MONDO:0018555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.149 chirag patel Added reviews for gene IL17RD from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v1.13 chirag patel Added reviews for gene IL17RD from panel Pituitary hormone deficiency
Differences of Sex Development v2.7 chirag patel Added reviews for gene IL17RD from panel Pituitary hormone deficiency
Pituitary hormone deficiency v1.15 IL17RD chirag patel reviewed gene: IL17RD: Rating: RED; Mode of pathogenicity: None; Publications: 40508017; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.148 chirag patel Added reviews for gene HS6ST1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v1.12 chirag patel Added reviews for gene HS6ST1 from panel Pituitary hormone deficiency
Differences of Sex Development v2.6 chirag patel Added reviews for gene HS6ST1 from panel Pituitary hormone deficiency
Pituitary hormone deficiency v1.15 HS6ST1 chirag patel reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 33819414; Phenotypes: Hypogonadotropic hypogonadism 15 with or without anosmia, MIM # 614880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.147 chirag patel Added reviews for gene FLRT3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v1.11 chirag patel Added reviews for gene FLRT3 from panel Pituitary hormone deficiency
Differences of Sex Development v2.5 chirag patel Added reviews for gene FLRT3 from panel Pituitary hormone deficiency
Pituitary hormone deficiency v1.15 FLRT3 chirag patel reviewed gene: FLRT3: Rating: RED; Mode of pathogenicity: None; Publications: 36700485, 37108593; Phenotypes: Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v2.4 chirag patel Added reviews for gene DUSP6 from panel Mendeliome
Mendeliome v2.146 chirag patel Added reviews for gene DUSP6 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v1.10 chirag patel Added reviews for gene DUSP6 from panel Pituitary hormone deficiency
Pituitary hormone deficiency v1.15 DUSP6 chirag patel reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 33819414, 37108593, 39809967, 40508017; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v1.15 DUSP6 chirag patel Deleted their review
Pituitary hormone deficiency v1.15 DUSP6 chirag patel reviewed gene: DUSP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33819414, 37108593, 39809967, 40508017; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.23 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Cardiomyopathy_Paediatric v1.23 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.23 VARS2 Zornitza Stark Classified gene: VARS2 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.23 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.22 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS2 were set to 40563223; 33937156; 31623496; 30458719; 29314548; 27502409
Phenotypes for gene: VARS2 were set to combined oxidative phosphorylation defect type 20, MONDO:0014397
Review for gene: VARS2 was set to GREEN
Added comment: PMID 29314548 reports 13 patients from nine unrelated families with biallelic VARS2 loss‑of‑function variants presenting with early‑onset mitochondrial encephalomyopathy and hypertrophic cardiomyopathy. PMID 40563223 adds four patients from three unrelated families with similar phenotype and demonstrates rescue of a Xenopus VARS2 knockout. Single families with the same phenotype are further described in PMID 27502409, PMID 31623496, PMID 30458719 and PMID 33937156, all harbouring biallelic VARS2 variants and severe paediatric cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.21 TRMT5 Zornitza Stark Marked gene: TRMT5 as ready
Cardiomyopathy_Paediatric v1.21 TRMT5 Zornitza Stark Gene: trmt5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.21 TRMT5 Zornitza Stark Classified gene: TRMT5 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.21 TRMT5 Zornitza Stark Gene: trmt5 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.20 TRMT5 Zornitza Stark gene: TRMT5 was added
gene: TRMT5 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT5 were set to 26189817
Phenotypes for gene: TRMT5 were set to combined oxidative phosphorylation defect type 26, MONDO:0014684
Review for gene: TRMT5 was set to AMBER
Added comment: PMID 26189817 reports 2 individuals from 2 families with biallelic TRMT5 variants presenting with childhood‑onset hypertrophic cardiomyopathy and multisystemic mitochondrial disease.
Sources: Literature
Cardiomyopathy_Paediatric v1.19 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Cardiomyopathy_Paediatric v1.19 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.19 SUCLG1 Zornitza Stark Classified gene: SUCLG1 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.19 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.18 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLG1 were set to 26475597
Phenotypes for gene: SUCLG1 were set to mitochondrial DNA depletion syndrome 9, MONDO:0009504
Review for gene: SUCLG1 was set to GREEN
Added comment: PMID 26475597 reports 21 individuals from 5 families with biallelic SUCLG1 variants presenting with mitochondrial DNA depletion syndrome 9, characterised by infantile encephalomyopathy, lactic acidosis, hypotonia and hypertrophic cardiomyopathy. Cardiomyopathy was present in around 15%.
Sources: Literature
Cardiomyopathy_Paediatric v1.17 PLEKHM2 Zornitza Stark Marked gene: PLEKHM2 as ready
Cardiomyopathy_Paediatric v1.17 PLEKHM2 Zornitza Stark Gene: plekhm2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.17 PLEKHM2 Zornitza Stark Classified gene: PLEKHM2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.17 PLEKHM2 Zornitza Stark Gene: plekhm2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.16 PLEKHM2 Zornitza Stark gene: PLEKHM2 was added
gene: PLEKHM2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PLEKHM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHM2 were set to 37349842; 36555735; 35862026; 34088011; 26464484
Phenotypes for gene: PLEKHM2 were set to dilated cardiomyopathy, MONDO:0005021, PLEKHM2-related
Review for gene: PLEKHM2 was set to AMBER
Added comment: Five studies (PMID 26464484, PMID 35862026, PMID 34088011, PMID 36555735, PMID 37349842) report biallelic loss‑of‑function variants in PLEKHM2 causing early‑onset dilated cardiomyopathy with left ventricular non‑compaction (DCM‑LVNC), onset in late childhood/early adolescence.

However, note that all but one of the reported families has the same homozygous variant ?founder effect.

Some functional data provided.
Sources: Literature
Cardiomyopathy_Paediatric v1.15 RBM10 Zornitza Stark Marked gene: RBM10 as ready
Cardiomyopathy_Paediatric v1.15 RBM10 Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.15 RBM10 Zornitza Stark Mode of inheritance for gene: RBM10 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.14 RBM10 Zornitza Stark Classified gene: RBM10 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.14 RBM10 Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.13 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RBM10 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: RBM10 were set to 30450804
Phenotypes for gene: RBM10 were set to TARP syndrome, MONDO:0010711
Review for gene: RBM10 was set to GREEN
Added comment: PMID 30450804 reports one individual with X-linked loss-of-function RBM10 variant presenting with hypertrophic obstructive cardiomyopathy as part of TARP syndrome. The syndrome includes talipes, atrial septal defect, Robin sequence and additional anomalies. Paper reviews literature and identifies two previous reports.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v2.6 TUBA4A Zornitza Stark Publications for gene: TUBA4A were set to PMID: 38413182
Muscular dystrophy and myopathy_Paediatric v2.5 TUBA4A Zornitza Stark Classified gene: TUBA4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v2.5 TUBA4A Zornitza Stark Gene: tuba4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v2.4 TUBA4A Zornitza Stark Mode of inheritance for gene: TUBA4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiac conduction disease v2.3 GJC1 Zornitza Stark Marked gene: GJC1 as ready
Cardiac conduction disease v2.3 GJC1 Zornitza Stark Gene: gjc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.145 GJC1 Zornitza Stark Marked gene: GJC1 as ready
Mendeliome v2.145 GJC1 Zornitza Stark Gene: gjc1 has been classified as Amber List (Moderate Evidence).
Oligodontia v1.1 GJC1 Zornitza Stark Marked gene: GJC1 as ready
Oligodontia v1.1 GJC1 Zornitza Stark Gene: gjc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.145 TENT5D Zornitza Stark Marked gene: TENT5D as ready
Mendeliome v2.145 TENT5D Zornitza Stark Gene: tent5d has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v2.11 TENT5D Zornitza Stark Marked gene: TENT5D as ready
Infertility and Recurrent Pregnancy Loss v2.11 TENT5D Zornitza Stark Gene: tent5d has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v2.0 G6PC1 Zornitza Stark Tag TRAIL study tag was added to gene: G6PC1.
Genomic newborn screening: BabyScreen+ v2.0 MMUT Zornitza Stark Tag TRAIL study tag was added to gene: MMUT.
Genomic newborn screening: BabyScreen+ v2.0 MMUT TRAIL SCHN commented on gene: MMUT
Genomic newborn screening: BabyScreen+ v2.0 G6PC1 TRAIL SCHN commented on gene: G6PC1
Fetal anomalies v2.5 FREM1 Zornitza Stark Mode of inheritance for gene: FREM1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.4 FREM1 Zornitza Stark commented on gene: FREM1: Note that the AD association is disputed: some of the reported variants now have implausibly high pop frequencies in gnomAD.
Mendeliome v2.145 FREM1 Zornitza Stark Mode of inheritance for gene: FREM1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.144 FREM1 Zornitza Stark commented on gene: FREM1: Note AD association is disputed as some of the reported variants now have implausibly high population frequencies.
Mendeliome v2.144 FREM1 Zornitza Stark edited their review of gene: FREM1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.12 KLHL24 Zornitza Stark Marked gene: KLHL24 as ready
Cardiomyopathy_Paediatric v1.12 KLHL24 Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.12 KLHL24 Zornitza Stark Classified gene: KLHL24 as Green List (high evidence)
Cardiomyopathy_Paediatric v1.12 KLHL24 Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.11 KLHL24 Zornitza Stark gene: KLHL24 was added
gene: KLHL24 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: KLHL24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 41823911; 41258845; 40176835; 37191012; 34740256; 34688992; 32870709; 31649980; 30715372; 30120936; 29779254
Phenotypes for gene: KLHL24 were set to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MIM#620236; Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, MIM# 617294
Review for gene: KLHL24 was set to GREEN
Added comment: PMID 41258845, PMID 31649980, PMID 37191012, PMID 34740256, PMID 34688992, PMID 30715372, PMID 41823911, PMID 40176835 and PMID 32870709 report heterozygous KLKL24 variants causing early‑onset cardiomyopathy in association with EB. Autosomal dominant gain‑of‑function start‑codon variants are found in 34 unrelated families (≥62 patients) with dilated or arrhythmogenic cardiomyopathy together with epidermolysis bullosa simplex.

Autosomal recessive loss‑of‑function variants are found in five unrelated families (≥15 patients) with childhood‑onset hypertrophic cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.10 FXN_FRDA_GAA Zornitza Stark Marked STR: FXN_FRDA_GAA as ready
Cardiomyopathy_Paediatric v1.10 FXN_FRDA_GAA Zornitza Stark Str: fxn_frda_gaa has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.10 Zornitza Stark Copied STR FXN_FRDA_GAA from panel Mendeliome
Cardiomyopathy_Paediatric v1.10 FXN_FRDA_GAA Zornitza Stark STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green,Expert Review Green,Expert list
paediatric-onset tags were added to STR: FXN_FRDA_GAA.
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Cardiomyopathy_Paediatric v1.9 FXN Zornitza Stark Marked gene: FXN as ready
Cardiomyopathy_Paediatric v1.9 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.9 FXN Zornitza Stark Classified gene: FXN as Green List (high evidence)
Cardiomyopathy_Paediatric v1.9 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.8 FXN Zornitza Stark Tag STR tag was added to gene: FXN.
Cardiomyopathy_Paediatric v1.8 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXN were set to 41432640; 40880907; 38396238; 34610949; 32999401
Phenotypes for gene: FXN were set to Friedreich ataxia, MIM# 229300
Review for gene: FXN was set to GREEN
Added comment: Well established gene-disease association.

Hypertrophic cardiomyopathy is a feature. Onset in adolescence/childhood.
Sources: Expert Review
Cardiomyopathy_Paediatric v1.7 ITPA Zornitza Stark Marked gene: ITPA as ready
Cardiomyopathy_Paediatric v1.7 ITPA Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.7 ITPA Zornitza Stark Classified gene: ITPA as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.7 ITPA Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.6 ITPA Zornitza Stark gene: ITPA was added
gene: ITPA was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPA were set to 30856165; 30816001
Phenotypes for gene: ITPA were set to inosine triphosphatase deficiency, MONDO:0013461
Review for gene: ITPA was set to AMBER
Added comment: PMID 30816001 and PMID 30856165 collectively report three unrelated families with biallelic ITPA variants presenting with early infantile encephalopathy (seizures, developmental delay, microcephaly, cataracts) and dilated cardiomyopathy of childhood onset.

DCM present in 3/8 families reported.
Sources: Literature
Pneumothorax v2.3 PRDM10 Bryony Thompson Marked gene: PRDM10 as ready
Pneumothorax v2.3 PRDM10 Bryony Thompson Gene: prdm10 has been classified as Amber List (Moderate Evidence).
Pneumothorax v2.3 PRDM10 Bryony Thompson Publications for gene: PRDM10 were set to 36440963
Pneumothorax v2.2 PRDM10 Bryony Thompson Classified gene: PRDM10 as Amber List (moderate evidence)
Pneumothorax v2.2 PRDM10 Bryony Thompson Gene: prdm10 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.144 PRDM10 Bryony Thompson Publications for gene: PRDM10 were set to 36440963
Mendeliome v2.143 PRDM10 Bryony Thompson Classified gene: PRDM10 as Amber List (moderate evidence)
Mendeliome v2.143 PRDM10 Bryony Thompson Gene: prdm10 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v2.11 Lucy Spencer Copied gene TENT5D from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.11 TENT5D Lucy Spencer gene: TENT5D was added
gene: TENT5D was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TENT5D was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TENT5D were set to 35256600; 36746179; 38228861
Phenotypes for gene: TENT5D were set to male infertility MONDO:0005372, TENT5D-related
Mendeliome v2.142 TENT5D Lucy Spencer Classified gene: TENT5D as Green List (high evidence)
Mendeliome v2.142 TENT5D Lucy Spencer Gene: tent5d has been classified as Green List (High Evidence).
Mendeliome v2.141 TENT5D Lucy Spencer gene: TENT5D was added
gene: TENT5D was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TENT5D was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TENT5D were set to 35256600; 36746179; 38228861
Phenotypes for gene: TENT5D were set to male infertility MONDO:0005372, TENT5D-related
Review for gene: TENT5D was set to GREEN
Added comment: PMID 35256600, PMID 36746179, and PMID 38228861 report 5 males from 4 families with oligoasthenoteratozoospermia or teratozoospermia and hemizygous variants in TENT5D. 2 nonsense and 2 missense, all rare in gnomand with no hemizygotes. Western blot on cells transfected with the missense variants showed reduced protein expression, reduced TENT5D expression in patient sperm samples was also observed.
Sources: Literature
Oligodontia v1.1 Lucy Spencer Copied gene GJC1 from panel Mendeliome
Oligodontia v1.1 GJC1 Lucy Spencer gene: GJC1 was added
gene: GJC1 was added to Oligodontia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GJC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJC1 were set to 28705318; 36979038
Phenotypes for gene: GJC1 were set to atrioventricular block MONDO:0000465, GJC1-related
Congenital Heart Defect v1.6 Lucy Spencer Copied gene GJC1 from panel Mendeliome
Congenital Heart Defect v1.6 GJC1 Lucy Spencer gene: GJC1 was added
gene: GJC1 was added to Congenital Heart Defect. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GJC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJC1 were set to 28705318; 36979038
Phenotypes for gene: GJC1 were set to atrioventricular block MONDO:0000465, GJC1-related
Cardiac conduction disease v2.3 Lucy Spencer Copied gene GJC1 from panel Mendeliome
Cardiac conduction disease v2.3 GJC1 Lucy Spencer gene: GJC1 was added
gene: GJC1 was added to Cardiac conduction disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GJC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJC1 were set to 28705318; 36979038
Phenotypes for gene: GJC1 were set to atrioventricular block MONDO:0000465, GJC1-related
Mendeliome v2.140 GJC1 Lucy Spencer Publications for gene: GJC1 were set to 28705318:36979038
Mendeliome v2.139 GJC1 Lucy Spencer Publications for gene: GJC1 were set to 28705318:36979038
Mendeliome v2.138 GJC1 Lucy Spencer Classified gene: GJC1 as Amber List (moderate evidence)
Mendeliome v2.138 GJC1 Lucy Spencer Gene: gjc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.137 GJC1 Lucy Spencer gene: GJC1 was added
gene: GJC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GJC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJC1 were set to 28705318:36979038
Phenotypes for gene: GJC1 were set to atrioventricular block MONDO:0000465, GJC1-related
Review for gene: GJC1 was set to AMBER
Added comment: PMID 28705318 reports 1 individual and another unrelated family with AV block, finger deformities, dental dysplasia and a brachyfacial pattern. Both had R75H in GJC1, de novo in the sporadic case, and segregated with disease in 4 affected individuals across 3 generations in the other family. Some functional evidence on transfected cells suggested the variant had a dominant negative effect on gap-junction communication.

PMID 36979038 reports a family with 13 affected individuals with AV block and congenital heart disease (mainly ASD). R184G was identified in all affected individuals. Again some functional evidence suggesting a dominant negative effect. No craniofacial, dental or digital anomalies were observed in this family, authors suggest this may be due to the fact their variant only suppresses the electrophysiological properties of the protein while R75H from the previous paper also suppresses the permeable functions.
Sources: Literature
Cardiomyopathy_Paediatric v1.5 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Cardiomyopathy_Paediatric v1.5 DPM3 Zornitza Stark Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.5 DPM3 Zornitza Stark Classified gene: DPM3 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.5 DPM3 Zornitza Stark Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.4 DPM3 Zornitza Stark gene: DPM3 was added
gene: DPM3 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 35932216
Phenotypes for gene: DPM3 were set to DPM3-congenital disorder of glycosylation, MONDO:0013049
Review for gene: DPM3 was set to AMBER
Added comment: PMID 35932216 reports 5 individuals from 4 families with biallelic homozygous missense DPM3 c.221A>G (p.Tyr74Cys) variants presenting with muscle weakness, developmental delay/intellectual disability, seizures, white‑matter abnormalities and childhood‑onset cardiomyopathy.

Note that most individuals reported with DPM3 variants have had a predominantly skeletal muscle phenotype. AMBER rating as only a single variant has been associated with this much more extensive multi-system phenotype that includes paediatric cardiomyopathy.
Sources: Literature
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Tag new gene name tag was added to gene: ATP5PO.
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Marked gene: ATP5PO as ready
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Gene: atp5po has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Classified gene: ATP5PO as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.3 ATP5PO Zornitza Stark Gene: atp5po has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.2 ATP5PO Zornitza Stark gene: ATP5PO was added
gene: ATP5PO was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ATP5PO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5PO were set to 40913360; 35621276
Phenotypes for gene: ATP5PO were set to mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MONDO:0957255
Review for gene: ATP5PO was set to AMBER
Added comment: PMID 40913360 and PMID 35621276 report 4 individuals from 3 families with homozygous splice variant c.87+3A>G in ATP5PO causing early‑onset hypertrophic cardiomyopathy, encephalopathy and hypotonia. The phenotype aligns with mitochondrial complex V (ATP synthase) deficiency, nuclear type 7.

AMBER rating as manifestation only linked to this one specific variant; founder effect?
Sources: Literature
Infertility and Recurrent Pregnancy Loss v2.10 TAF7L Zornitza Stark Marked gene: TAF7L as ready
Infertility and Recurrent Pregnancy Loss v2.10 TAF7L Zornitza Stark Gene: taf7l has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v2.10 Zornitza Stark Copied gene TAF7L from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.10 TAF7L Zornitza Stark gene: TAF7L was added
gene: TAF7L was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TAF7L was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAF7L were set to 38511217; 36714566; 35554494
Phenotypes for gene: TAF7L were set to Infertility disorder, MONDO:0005047, TAF7L-related
Mendeliome v2.136 TAF7L Zornitza Stark edited their review of gene: TAF7L: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v2.136 TAF7L Zornitza Stark Marked gene: TAF7L as ready
Mendeliome v2.136 TAF7L Zornitza Stark Gene: taf7l has been classified as Amber List (Moderate Evidence).
Mendeliome v2.136 TAF7L Zornitza Stark Mode of inheritance for gene: TAF7L 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v2.135 TAF7L Zornitza Stark Classified gene: TAF7L as Amber List (moderate evidence)
Mendeliome v2.135 TAF7L Zornitza Stark Gene: taf7l has been classified as Amber List (Moderate Evidence).
Mendeliome v2.134 TAF7L Zornitza Stark gene: TAF7L was added
gene: TAF7L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TAF7L 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: TAF7L were set to 38511217; 36714566; 35554494
Phenotypes for gene: TAF7L were set to Infertility disorder, MONDO:0005047, TAF7L-related
Review for gene: TAF7L was set to AMBER
Added comment: PMID 35554494, PMID 38511217 and PMID 36714566 report at least 5 independent families with X‑linked hemizygous variants in TAF7L in association with severe oligoasthenoteratozoospermia (male infertility). Some of the variants are present in the population, others have not been segregated and a knock-in of one of the variants did not impair fertility, hence Amber rating for now.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v2.3 TUBA4A Gina Ravenscroft reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 41678358; Phenotypes: myopathy, nemaline myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pneumothorax v2.1 Sangavi Sivagnanasundram Copied gene PRDM10 from panel Mendeliome
Pneumothorax v2.1 PRDM10 Sangavi Sivagnanasundram gene: PRDM10 was added
gene: PRDM10 was added to Pneumothorax. Sources: Expert Review Red,Literature
Mode of inheritance for gene: PRDM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM10 were set to 36440963
Phenotypes for gene: PRDM10 were set to Birt-Hogg-Dube syndrome 2, MIM# 620459
Mendeliome v2.133 PRDM10 Sangavi Sivagnanasundram reviewed gene: PRDM10: Rating: AMBER; Mode of pathogenicity: None; Publications: 37331486, 40028672; Phenotypes: Birt–Hogg–Dubé syndrome MONDO:0800444; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism v1.9 IGSF10 chirag patel Marked gene: IGSF10 as ready
Hypogonadotropic hypogonadism v1.9 IGSF10 chirag patel Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v1.15 IGSF10 chirag patel Marked gene: IGSF10 as ready
Pituitary hormone deficiency v1.15 IGSF10 chirag patel Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v1.15 chirag patel Copied gene IGSF10 from panel Mendeliome
Pituitary hormone deficiency v1.15 IGSF10 chirag patel gene: IGSF10 was added
gene: IGSF10 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: IGSF10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IGSF10 were set to 27137492; 31042289; 40700020; 40700020; 31200363; 33208564
Phenotypes for gene: IGSF10 were set to Disorder of sex differentiation, MONDO:0002145, IGSF10-related
Hypogonadotropic hypogonadism v1.9 chirag patel Copied gene IGSF10 from panel Mendeliome
Hypogonadotropic hypogonadism v1.9 IGSF10 chirag patel gene: IGSF10 was added
gene: IGSF10 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: IGSF10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IGSF10 were set to 27137492; 31042289; 40700020; 40700020; 31200363; 33208564
Phenotypes for gene: IGSF10 were set to Disorder of sex differentiation, MONDO:0002145, IGSF10-related
Pituitary hormone deficiency v1.14 EMX2 chirag patel Marked gene: EMX2 as ready
Pituitary hormone deficiency v1.14 EMX2 chirag patel Gene: emx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v1.14 chirag patel Copied gene EMX2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v1.14 EMX2 chirag patel gene: EMX2 was added
gene: EMX2 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EMX2 were set to 41765865; 34829455; 33434492; 25577462
Phenotypes for gene: EMX2 were set to Schizencephaly, MIM# 269160Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related; 46,XX or XY DSD, EMX2-related
Pituitary hormone deficiency v1.13 AVP chirag patel Marked gene: AVP as ready
Pituitary hormone deficiency v1.13 AVP chirag patel Gene: avp has been classified as Green List (High Evidence).
Pituitary hormone deficiency v1.13 AVP chirag patel Marked gene: AVP as ready
Pituitary hormone deficiency v1.13 AVP chirag patel Gene: avp has been classified as Green List (High Evidence).
Pituitary hormone deficiency v1.13 chirag patel Copied gene AVP from panel Diabetes Insipidus
Pituitary hormone deficiency v1.13 AVP chirag patel gene: AVP was added
gene: AVP was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert list
treatable, clinical trial tags were added to gene: AVP.
Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AVP were set to 6526016; 1840604; 8554046
Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700
Genetic Epilepsy v2.16 KMT2A chirag patel Phenotypes for gene: KMT2A were changed from Wiedemann-Steiner syndrome MIM#605130 to Wiedemann-Steiner syndrome, MONDO:0011518
Genetic Epilepsy v2.15 KMT2A chirag patel Publications for gene: KMT2A were set to PMID: 37075569
Genetic Epilepsy v2.14 KMT2A chirag patel changed review comment from: ClinGen DEFINITIVE (May 2022).
Growth hormone deficiency seen in 30%, and pituitary abnormalities seen in 64%; to: ClinGen DEFINITIVE (May 2022).
Seizures seen in 20%
Genetic Epilepsy v2.14 chirag patel Added reviews for gene KMT2A from panel Pituitary hormone deficiency
Congenital Heart Defect v1.5 KMT2A chirag patel Marked gene: KMT2A as ready
Congenital Heart Defect v1.5 KMT2A chirag patel Gene: kmt2a has been classified as Green List (High Evidence).
Congenital Heart Defect v1.5 KMT2A chirag patel Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MONDO:0011518
Congenital Heart Defect v1.4 KMT2A chirag patel Publications for gene: KMT2A were set to
Congenital Heart Defect v1.3 KMT2A chirag patel Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v1.2 KMT2A chirag patel changed review comment from: ClinGen DEFINITIVE (May 2022).
Growth hormone deficiency seen in 30%, and pituitary abnormalities seen in 64%; to: ClinGen DEFINITIVE (May 2022).
Congenital heart defects seen in 1/3
Growth failure v2.3 chirag patel Added reviews for gene KMT2A from panel Pituitary hormone deficiency
Congenital Heart Defect v1.2 chirag patel Added reviews for gene KMT2A from panel Pituitary hormone deficiency
Pituitary hormone deficiency v1.12 KMT2A chirag patel reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35617449; Phenotypes: Wiedemann-Steiner syndrome, MONDO:0011518; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v1.12 chirag patel Copied gene KMT2A from panel Hypertrichosis syndromes
Pituitary hormone deficiency v1.12 KMT2A chirag patel gene: KMT2A was added
gene: KMT2A was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome, MIM# 605130 AD
Mendeliome v2.133 LGR4 chirag patel Phenotypes for gene: LGR4 were changed from {Bone mineral density, low, susceptibility to} MIM#615311; Syndromic disease, LGR4-related (MONDO#0002254); Delayed puberty, self-limited, MONDO:0859205 to {Bone mineral density, low, susceptibility to} MIM#615311; Syndromic disease, LGR4-related (MONDO#0002254); Delayed puberty, self-limited, MONDO:0859205
Mendeliome v2.132 LGR4 chirag patel Phenotypes for gene: LGR4 were changed from {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254); Delayed puberty, self-limited, MONDO:0859205 to {Bone mineral density, low, susceptibility to} MIM#615311; Syndromic disease, LGR4-related (MONDO#0002254); Delayed puberty, self-limited, MONDO:0859205
Pituitary hormone deficiency v1.11 LGR4 chirag patel Publications for gene: LGR4 were set to 32493844; 36538378
Pituitary hormone deficiency v1.10 LGR4 chirag patel Mode of inheritance for gene: LGR4 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism v1.8 LGR4 chirag patel Marked gene: LGR4 as ready
Hypogonadotropic hypogonadism v1.8 LGR4 chirag patel Gene: lgr4 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v1.8 LGR4 chirag patel Phenotypes for gene: LGR4 were changed from {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254); Delayed puberty, self-limited, MONDO:0859205 to Delayed puberty, self-limited, MONDO:0859205
Hypogonadotropic hypogonadism v1.7 LGR4 chirag patel Publications for gene: LGR4 were set to 32493844; 36538378
Hypogonadotropic hypogonadism v1.6 LGR4 chirag patel Mode of inheritance for gene: LGR4 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism v1.5 LGR4 chirag patel Classified gene: LGR4 as Red List (low evidence)
Hypogonadotropic hypogonadism v1.5 LGR4 chirag patel Gene: lgr4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v1.9 LGR4 chirag patel Marked gene: LGR4 as ready
Pituitary hormone deficiency v1.9 LGR4 chirag patel Gene: lgr4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v1.9 LGR4 chirag patel Phenotypes for gene: LGR4 were changed from {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254); Delayed puberty, self-limited, MONDO:0859205 to Delayed puberty, self-limited, MONDO:0859205
Pituitary hormone deficiency v1.8 LGR4 chirag patel Classified gene: LGR4 as Red List (low evidence)
Pituitary hormone deficiency v1.8 LGR4 chirag patel Gene: lgr4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v1.7 chirag patel Copied gene LGR4 from panel Mendeliome
Pituitary hormone deficiency v1.7 LGR4 chirag patel gene: LGR4 was added
gene: LGR4 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: LGR4 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: LGR4 were set to 32493844; 36538378
Phenotypes for gene: LGR4 were set to {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254); Delayed puberty, self-limited, MONDO:0859205
Hypogonadotropic hypogonadism v1.4 chirag patel Copied gene LGR4 from panel Mendeliome
Hypogonadotropic hypogonadism v1.4 LGR4 chirag patel gene: LGR4 was added
gene: LGR4 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: LGR4 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: LGR4 were set to 32493844; 36538378
Phenotypes for gene: LGR4 were set to {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254); Delayed puberty, self-limited, MONDO:0859205
Mendeliome v2.131 LGR4 chirag patel Phenotypes for gene: LGR4 were changed from {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254) to {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254); Delayed puberty, self-limited, MONDO:0859205
Mendeliome v2.130 LGR4 chirag patel reviewed gene: LGR4: Rating: RED; Mode of pathogenicity: None; Publications: 32493844; Phenotypes: Delayed puberty, self-limited, MONDO:0859205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v1.6 PREPL chirag patel Publications for gene: PREPL were set to 28726805; 27604308; 24610330; 34888501
Pituitary hormone deficiency v1.5 PREPL chirag patel reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28726805, 32218803, 34693706; Phenotypes: Myasthenic syndrome, congenital, 22 MIM#616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v1.5 chirag patel Copied gene PREPL from panel Mitochondrial disease
Pituitary hormone deficiency v1.5 PREPL chirag patel gene: PREPL was added
gene: PREPL was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Literature,Literature
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 28726805; 27604308; 24610330; 34888501
Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome
Hypogonadotropic hypogonadism v1.3 JAG1 chirag patel Marked gene: JAG1 as ready
Hypogonadotropic hypogonadism v1.3 JAG1 chirag patel Gene: jag1 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v1.3 chirag patel Copied gene JAG1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v1.3 JAG1 chirag patel gene: JAG1 was added
gene: JAG1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature,Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 36729644
Phenotypes for gene: JAG1 were set to Hypogonadotropic hypogonadism, MONDO:0015770, JAG1-related
Differences of Sex Development v2.3 JAG1 chirag patel Marked gene: JAG1 as ready
Differences of Sex Development v2.3 JAG1 chirag patel Gene: jag1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v1.4 chirag patel Added reviews for gene JAG1 from panel Pituitary hormone deficiency
Differences of Sex Development v2.3 chirag patel Copied gene JAG1 from panel Pituitary hormone deficiency
Differences of Sex Development v2.3 JAG1 chirag patel gene: JAG1 was added
gene: JAG1 was added to Differences of Sex Development. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 36729644
Phenotypes for gene: JAG1 were set to Hypogonadotropic hypogonadism, MONDO:0015770, JAG1-related
Pituitary hormone deficiency v1.3 JAG1 chirag patel Marked gene: JAG1 as ready
Pituitary hormone deficiency v1.3 JAG1 chirag patel Gene: jag1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v1.3 JAG1 chirag patel Classified gene: JAG1 as Amber List (moderate evidence)
Pituitary hormone deficiency v1.3 JAG1 chirag patel Gene: jag1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v1.2 JAG1 chirag patel gene: JAG1 was added
gene: JAG1 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 36729644
Phenotypes for gene: JAG1 were set to Hypogonadotropic hypogonadism, MONDO:0015770, JAG1-related
Review for gene: JAG1 was set to AMBER
Added comment: 9 unrelated individuals with heterozygous missense JAG1 variants presenting with congenital hypogonadotropic hypogonadism/Kallmann syndrome (GnRH deficiency) and no features of Alagille syndrome. There was no segregation data. Some individuals (6/9) had variants in other HH genes. The ultra‑rare variants (p.R117G, p.F206Y, p.T931I, p.F509L) reduce JAG1 protein levels or cause ER retention in HEK293T cells, and jag1b knock‑down in zebrafish disrupts GnRH neuron migration.
Sources: Literature
Hypogonadotropic hypogonadism v1.2 FGF17 chirag patel Phenotypes for gene: FGF17 were changed from to Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270
Mendeliome v2.130 PTTG1 chirag patel Marked gene: PTTG1 as ready
Mendeliome v2.130 PTTG1 chirag patel Gene: pttg1 has been classified as Red List (Low Evidence).
Mendeliome v2.130 chirag patel Copied gene PTTG1 from panel Hypogonadotropic hypogonadism
Mendeliome v2.130 PTTG1 chirag patel gene: PTTG1 was added
gene: PTTG1 was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for gene: PTTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTTG1 were set to 30608578
Phenotypes for gene: PTTG1 were set to Delayed puberty, self-limited, MONDO:0859205
Hypogonadotropic hypogonadism v1.1 PTTG1 chirag patel Marked gene: PTTG1 as ready
Hypogonadotropic hypogonadism v1.1 PTTG1 chirag patel Gene: pttg1 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v1.1 PTTG1 chirag patel gene: PTTG1 was added
gene: PTTG1 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: PTTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTTG1 were set to 30608578
Phenotypes for gene: PTTG1 were set to Delayed puberty, self-limited, MONDO:0859205
Review for gene: PTTG1 was set to RED
Added comment: 5 individuals from 2 unrelated families presenting with self‑limited delayed puberty (constitutional delay of puberty). They identified 2 rare heterozygous EAP1 variants (p.Ala221del and p.Asn770His), which segregated with affected individuals in the families. Functional assays (luciferase reporter, Western blot, immunofluorescence) demonstrated reduced GnRH promoter activity and protein mislocalisation.

Red rating as phenotype is NOT hypogonadotropic hypogonadism.
Sources: Literature
Microcephaly v2.6 YARS1 chirag patel Marked gene: YARS1 as ready
Microcephaly v2.6 YARS1 chirag patel Gene: yars1 has been classified as Green List (High Evidence).
Microcephaly v2.6 YARS1 chirag patel Publications for gene: YARS1 were set to 30304524; 29232904; 27633801
Microcephaly v2.5 YARS1 chirag patel reviewed gene: YARS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34536092; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v2.5 chirag patel Copied gene YARS1 from panel Intellectual disability syndromic and non-syndromic
Microcephaly v2.5 YARS1 chirag patel gene: YARS1 was added
gene: YARS1 was added to Microcephaly. Sources: Expert Review Green,Literature
Mode of inheritance for gene: YARS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS1 were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS1 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Cholestasis v2.1 YARS1 chirag patel Marked gene: YARS1 as ready
Cholestasis v2.1 YARS1 chirag patel Gene: yars1 has been classified as Green List (High Evidence).
Cholestasis v2.1 chirag patel Copied gene YARS1 from panel Intellectual disability syndromic and non-syndromic
Cholestasis v2.1 YARS1 chirag patel gene: YARS1 was added
gene: YARS1 was added to Cholestasis. Sources: Expert Review Green,Literature
Mode of inheritance for gene: YARS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS1 were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS1 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Congenital hypothyroidism v1.7 YARS1 chirag patel Publications for gene: YARS1 were set to 30304524; 29232904; 27633801
Congenital hypothyroidism v1.6 YARS1 chirag patel Marked gene: YARS1 as ready
Congenital hypothyroidism v1.6 YARS1 chirag patel Gene: yars1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v1.6 YARS1 chirag patel reviewed gene: YARS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34536092; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v1.6 chirag patel Copied gene YARS1 from panel Intellectual disability syndromic and non-syndromic
Congenital hypothyroidism v1.6 YARS1 chirag patel gene: YARS1 was added
gene: YARS1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: YARS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS1 were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS1 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Fetal anomalies v2.4 SLIT1 chirag patel Marked gene: SLIT1 as ready
Fetal anomalies v2.4 SLIT1 chirag patel Gene: slit1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v1.1 SLIT1 chirag patel Marked gene: SLIT1 as ready
Congenital Heart Defect v1.1 SLIT1 chirag patel Gene: slit1 has been classified as Red List (Low Evidence).
Fetal anomalies v2.4 chirag patel Copied gene SLIT1 from panel Mendeliome
Fetal anomalies v2.4 SLIT1 chirag patel gene: SLIT1 was added
gene: SLIT1 was added to Fetal anomalies. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SLIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLIT1 were set to 36855159
Phenotypes for gene: SLIT1 were set to Familial bicuspid aortic valve, MONDO:0007194
Congenital Heart Defect v1.1 chirag patel Copied gene SLIT1 from panel Mendeliome
Congenital Heart Defect v1.1 SLIT1 chirag patel gene: SLIT1 was added
gene: SLIT1 was added to Congenital Heart Defect. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SLIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLIT1 were set to 36855159
Phenotypes for gene: SLIT1 were set to Familial bicuspid aortic valve, MONDO:0007194
Mendeliome v2.129 SLIT1 chirag patel Marked gene: SLIT1 as ready
Mendeliome v2.129 SLIT1 chirag patel Gene: slit1 has been classified as Red List (Low Evidence).
Mendeliome v2.129 SLIT1 chirag patel gene: SLIT1 was added
gene: SLIT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLIT1 were set to 36855159
Phenotypes for gene: SLIT1 were set to Familial bicuspid aortic valve, MONDO:0007194
Review for gene: SLIT1 was set to RED
Added comment: 7 unrelated individuals with isolated bicuspid aortic valve and 7 different heterozygous SLIT1 variants (6 x missense, 1 x nonsense). Five variants are rare but 2 missense variants are common in gnomAD (with one case having a variant in another gene). No segregation data or functional validation is provided.
Sources: Literature
Growth failure v2.2 MED24 chirag patel Marked gene: MED24 as ready
Growth failure v2.2 MED24 chirag patel Gene: med24 has been classified as Red List (Low Evidence).
Growth failure v2.2 chirag patel Copied gene MED24 from panel Mendeliome
Growth failure v2.2 MED24 chirag patel gene: MED24 was added
gene: MED24 was added to Growth failure. Sources: Expert Review Red,Literature
Mode of inheritance for gene: MED24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED24 were set to 30809043
Phenotypes for gene: MED24 were set to Isolated short stature, MONDO:1010112
Mendeliome v2.128 MED24 chirag patel Marked gene: MED24 as ready
Mendeliome v2.128 MED24 chirag patel Gene: med24 has been classified as Red List (Low Evidence).
Mendeliome v2.128 MED24 chirag patel gene: MED24 was added
gene: MED24 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MED24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED24 were set to 30809043
Phenotypes for gene: MED24 were set to Isolated short stature, MONDO:1010112
Review for gene: MED24 was set to RED
Added comment: PMID 30809043 reports 2 unrelated individuals with idiopathic short stature (HT -2.1 and -2.3SD) and 2 different heterozygous MED24 variants. The p.(Thr416Ser) variant was de novo, and the p.(Arg763Gln) variant was inherited from an affected mother (HT -1.1SD). No functional assays were provided.
Sources: Literature
Growth failure v2.1 CREB3L4 chirag patel Marked gene: CREB3L4 as ready
Growth failure v2.1 CREB3L4 chirag patel Gene: creb3l4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v1.1 CREB3L4 chirag patel Marked gene: CREB3L4 as ready
Pituitary hormone deficiency v1.1 CREB3L4 chirag patel Gene: creb3l4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v1.1 chirag patel Copied gene CREB3L4 from panel Mendeliome
Pituitary hormone deficiency v1.1 CREB3L4 chirag patel gene: CREB3L4 was added
gene: CREB3L4 was added to Pituitary hormone deficiency. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CREB3L4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREB3L4 were set to 34589056
Phenotypes for gene: CREB3L4 were set to Isolated congenital growth hormone deficiency, MONDO:0000050
Growth failure v2.1 chirag patel Copied gene CREB3L4 from panel Mendeliome
Growth failure v2.1 CREB3L4 chirag patel gene: CREB3L4 was added
gene: CREB3L4 was added to Growth failure. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CREB3L4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREB3L4 were set to 34589056
Phenotypes for gene: CREB3L4 were set to Isolated congenital growth hormone deficiency, MONDO:0000050
Mendeliome v2.127 CREB3L4 chirag patel Marked gene: CREB3L4 as ready
Mendeliome v2.127 CREB3L4 chirag patel Gene: creb3l4 has been classified as Red List (Low Evidence).
Mendeliome v2.127 CREB3L4 chirag patel gene: CREB3L4 was added
gene: CREB3L4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CREB3L4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREB3L4 were set to 34589056
Phenotypes for gene: CREB3L4 were set to Isolated congenital growth hormone deficiency, MONDO:0000050
Review for gene: CREB3L4 was set to RED
Added comment: 2 unrelated female patients with childhood‑onset growth hormone deficiency, low IGF‑1, and normal pituitary on MRI imaging. They report 2 heterozygous variants in CREB3L4 gene (p.Arg222Lys and p.Arg105GlyfsTer29). No segregation data or functional validation were provided.
Sources: Literature
Mandibulofacial Acrofacial dysostosis v2.2 chirag patel Copied gene CTDSP2 from panel Mendeliome
Mandibulofacial Acrofacial dysostosis v2.2 CTDSP2 chirag patel gene: CTDSP2 was added
gene: CTDSP2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CTDSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTDSP2 were set to 39941065; 38731925
Phenotypes for gene: CTDSP2 were set to Craniofacial microsomia, MONDO:0015397
Deafness_IsolatedAndComplex v2.2 chirag patel Copied gene CTDSP2 from panel Mendeliome
Deafness_IsolatedAndComplex v2.2 CTDSP2 chirag patel gene: CTDSP2 was added
gene: CTDSP2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CTDSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTDSP2 were set to 39941065; 38731925
Phenotypes for gene: CTDSP2 were set to Craniofacial microsomia, MONDO:0015397
Mendeliome v2.126 CTDSP2 chirag patel Marked gene: CTDSP2 as ready
Mendeliome v2.126 CTDSP2 chirag patel Gene: ctdsp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.126 CTDSP2 chirag patel Classified gene: CTDSP2 as Amber List (moderate evidence)
Mendeliome v2.126 CTDSP2 chirag patel Gene: ctdsp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.125 CTDSP2 chirag patel gene: CTDSP2 was added
gene: CTDSP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CTDSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTDSP2 were set to 39941065; 38731925
Phenotypes for gene: CTDSP2 were set to Craniofacial microsomia, MONDO:0015397
Review for gene: CTDSP2 was set to AMBER
Added comment: PMID 38731925 reports 2 individuals from 2 unrelated families with the same de novo rare heterozygous missense variant in CTDSP2 (c.332C>A, p.T111N). They presented with hemifacial microsomia (unilateral facial hypoplasia, mandibular hypoplasia, ear malformations, and unilateral moderate-severe conductive hearing loss).

PMID 39941065 reports the functional studies for the p.T111N variant. Zebrafish ctdsp2 knockout models exhibited craniofacial defects characterized by cartilage malformations and chondrocyte disorganization. In silico and in vivo experiments revealed the association of CTDSP2 with chondrogenic differentiation of neural crest cells as well as the TGF-β and p53 signaling pathways. Rescue by wild‑type ctdsp2 mRNA or tp53 knockout restores normal cartilage, providing strong functional support.
Sources: Literature
Hyperthyroidism v1.2 chirag patel Added reviews for gene TRU-TCA1-1 from panel Mendeliome
Hyperthyroidism v1.1 chirag patel Added reviews for gene TRU-TCA1-1 from panel Mendeliome
Mendeliome v2.124 TRU-TCA1-1 chirag patel changed review comment from: PMID 37254812 reports functional assays of the C65G variant reported in the 2 families (26854926, 34956927). CRISPR‑edited HAP1 cells show reduced tRNA expression, impaired POLR3 recruitment, hypomodification of U34 and >6‑fold decrease in UGA‑Sec recoding, supporting pathogenicity.; to: PMID 37254812 reports functional assays of the C65G variant reported in the 2 families (26854926, 34956927). CRISPR‑edited HAP1 cells show reduced tRNA expression, impaired POLR3 recruitment, hypomodification of U34 and >6‑fold decrease in UGA‑Sec recoding, supporting pathogenicity.
Mendeliome v2.124 TRU-TCA1-1 chirag patel reviewed gene: TRU-TCA1-1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37254812; Phenotypes: Hyperthyroidism MONDO:0004425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.23 ZRANB1 chirag patel Marked gene: ZRANB1 as ready
Intellectual disability syndromic and non-syndromic v2.23 ZRANB1 chirag patel Gene: zranb1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v2.13 ZRANB1 chirag patel Marked gene: ZRANB1 as ready
Genetic Epilepsy v2.13 ZRANB1 chirag patel Gene: zranb1 has been classified as Amber List (Moderate Evidence).
Microcephaly v2.4 ZRANB1 chirag patel Marked gene: ZRANB1 as ready
Microcephaly v2.4 ZRANB1 chirag patel Gene: zranb1 has been classified as Amber List (Moderate Evidence).
Microcephaly v2.4 chirag patel Copied gene ZRANB1 from panel Mendeliome
Microcephaly v2.4 ZRANB1 chirag patel gene: ZRANB1 was added
gene: ZRANB1 was added to Microcephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ZRANB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZRANB1 were set to 38099646
Phenotypes for gene: ZRANB1 were set to Neurodevelopmental disorder, MONDO:0700092, ZRANB1-related
Intellectual disability syndromic and non-syndromic v2.23 chirag patel Copied gene ZRANB1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.23 ZRANB1 chirag patel gene: ZRANB1 was added
gene: ZRANB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ZRANB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZRANB1 were set to 38099646
Phenotypes for gene: ZRANB1 were set to Neurodevelopmental disorder, MONDO:0700092, ZRANB1-related
Genetic Epilepsy v2.13 chirag patel Copied gene ZRANB1 from panel Mendeliome
Genetic Epilepsy v2.13 ZRANB1 chirag patel gene: ZRANB1 was added
gene: ZRANB1 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ZRANB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZRANB1 were set to 38099646
Phenotypes for gene: ZRANB1 were set to Neurodevelopmental disorder, MONDO:0700092, ZRANB1-related
Mendeliome v2.124 ZRANB1 chirag patel Marked gene: ZRANB1 as ready
Mendeliome v2.124 ZRANB1 chirag patel Gene: zranb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.124 ZRANB1 chirag patel Classified gene: ZRANB1 as Amber List (moderate evidence)
Mendeliome v2.124 ZRANB1 chirag patel Gene: zranb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.123 ZRANB1 chirag patel gene: ZRANB1 was added
gene: ZRANB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZRANB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZRANB1 were set to 38099646
Phenotypes for gene: ZRANB1 were set to Neurodevelopmental disorder, MONDO:0700092, ZRANB1-related
Review for gene: ZRANB1 was set to AMBER
Added comment: PMID 38099646 reports 2 unrelated individuals presenting with a neurodevelopmental disorder (developmental delay, ASD, microcephaly, seizures, constipation, and craniofacial anomalies). They report 2 rare heterozygous missense ZRANB1 variants but no segregation data is available. Functional assays demonstrate loss of deubiquitylating activity for p.R438W and loss of STRIPAK binding for p.A451V, and are both rescued by wild‑type Trabid. Knock‑in mouse models showed reduced neuronal and glial cell densities in the brain, motor impairment, and impaired APC trafficking in neurites.
Sources: Literature
Severe early-onset obesity v2.1 SH2B1 chirag patel Marked gene: SH2B1 as ready
Severe early-onset obesity v2.1 SH2B1 chirag patel Gene: sh2b1 has been classified as Green List (High Evidence).
Monogenic Diabetes v1.1 SH2B1 chirag patel Marked gene: SH2B1 as ready
Monogenic Diabetes v1.1 SH2B1 chirag patel Gene: sh2b1 has been classified as Green List (High Evidence).
Severe early-onset obesity v2.1 chirag patel Copied gene SH2B1 from panel Mendeliome
Severe early-onset obesity v2.1 SH2B1 chirag patel gene: SH2B1 was added
gene: SH2B1 was added to Severe early-onset obesity. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SH2B1 were set to 37329217; 31439647; 29216354
Phenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994
Monogenic Diabetes v1.1 chirag patel Copied gene SH2B1 from panel Mendeliome
Monogenic Diabetes v1.1 SH2B1 chirag patel gene: SH2B1 was added
gene: SH2B1 was added to Monogenic Diabetes. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SH2B1 were set to 37329217; 31439647; 29216354
Phenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994
Mendeliome v2.122 SH2B1 chirag patel Marked gene: SH2B1 as ready
Mendeliome v2.122 SH2B1 chirag patel Gene: sh2b1 has been classified as Green List (High Evidence).
Mendeliome v2.122 SH2B1 chirag patel Classified gene: SH2B1 as Green List (high evidence)
Mendeliome v2.122 SH2B1 chirag patel Gene: sh2b1 has been classified as Green List (High Evidence).
Mendeliome v2.121 SH2B1 chirag patel gene: SH2B1 was added
gene: SH2B1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SH2B1 were set to 37329217; 31439647; 29216354
Phenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994
Review for gene: SH2B1 was set to GREEN
Added comment: PMID 31439647 reports 16 unrelated individuals with severe early‑onset obesity, hyperphagia, insulin resistance and neurobehavioral abnormalities (learning difficulties, dyspraxia, ASD, ADHD, aggression/emotional lability, anxiety). They identified 15 rare heterozygous missense variants in SH2B1, but no segregation data is available. Seven of 15 variants were shown to impair the ability of SH2B1b to stimulate NGF-induced neurite outgrowth. Mouse models null for Sh2b1 exhibited obesity, impaired glucose homeostasis, and often, aggressive behaviour.

PMID 37329217 describes 4 individuals with severe early‑onset obesity, hyperphagia, insulin resistance and hepatosplenomegaly. They reported 5 missense variants (3 heterozygous, 1 compound heterozygous) but lacked segregation data and functional validation, and the variants were classified as VUS.

PMID 29216354 reports a single heterozygous missense variant whose allele frequency (0.47% in Africans) exceeds the dominant disease threshold and for which parental status is unknown.
Sources: Literature
Mendeliome v2.120 PRODH2 Zornitza Stark Phenotypes for gene: PRODH2 were changed from hydroxyprolinemia MONDO:0009374 to Hydroxyprolinaemia, MIM# 237000
Mendeliome v2.119 PRODH2 Zornitza Stark reviewed gene: PRODH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydroxyprolinaemia, MIM# 237000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v2.1 PRODH2 Zornitza Stark Phenotypes for gene: PRODH2 were changed from hydroxyprolinemia MONDO:0009374 to Hydroxyprolinaemia, MIM# 237000
Aminoacidopathy v2.0 PRODH2 Zornitza Stark reviewed gene: PRODH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydroxyprolinaemia, MIM# 237000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v2.1 ACAA2 chirag patel Marked gene: ACAA2 as ready
Lipodystrophy_Lipoatrophy v2.1 ACAA2 chirag patel Gene: acaa2 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v2.1 chirag patel Copied gene ACAA2 from panel Mendeliome
Lipodystrophy_Lipoatrophy v2.1 ACAA2 chirag patel gene: ACAA2 was added
gene: ACAA2 was added to Lipodystrophy_Lipoatrophy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ACAA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACAA2 were set to 41186989
Phenotypes for gene: ACAA2 were set to Lipodystrophy, MONDO:0006573
Mode of pathogenicity for gene: ACAA2 was set to Other
Mendeliome v2.119 ACAA2 chirag patel Marked gene: ACAA2 as ready
Mendeliome v2.119 ACAA2 chirag patel Gene: acaa2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.119 ACAA2 chirag patel Classified gene: ACAA2 as Amber List (moderate evidence)
Mendeliome v2.119 ACAA2 chirag patel Gene: acaa2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.118 ACAA2 chirag patel gene: ACAA2 was added
gene: ACAA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACAA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACAA2 were set to 41186989
Phenotypes for gene: ACAA2 were set to Lipodystrophy, MONDO:0006573
Mode of pathogenicity for gene: ACAA2 was set to Other
Review for gene: ACAA2 was set to AMBER
Added comment: 8 individuals from 4 unrelated families with the same heterozygous variant in ACAA2 gene (c.688G>A, (p.Glu230Lys)). Individuals presented with partial lipodystrophy, cervical lipomatosis, infantile steatohepatitis and hypoglycaemia. The variant is absent in gnomAD, affects a high conserved amino acid, and segregated with affected individuals (de novo in 1 family, inherited in 2 families). Functional data was limited to structural modelling and plasma acylcarnitine profiling that suggests a gain‑of‑function effect. The ACAA2 gene encodes for a mitochondrial fatty acid β-oxidation (mFAO) enzyme.
Sources: Literature
Mendeliome v2.117 SAXO6 Zornitza Stark Marked gene: SAXO6 as ready
Mendeliome v2.117 SAXO6 Zornitza Stark Gene: saxo6 has been classified as Green List (High Evidence).
Mendeliome v2.117 Zornitza Stark Copied gene SAXO6 from panel Retinitis pigmentosa
Mendeliome v2.117 SAXO6 Zornitza Stark gene: SAXO6 was added
gene: SAXO6 was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SAXO6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAXO6 were set to 41742423
Phenotypes for gene: SAXO6 were set to Retinitis pigmentosa 108, MIM# 621637
Retinitis pigmentosa v1.3 SAXO6 Zornitza Stark Marked gene: SAXO6 as ready
Retinitis pigmentosa v1.3 SAXO6 Zornitza Stark Gene: saxo6 has been classified as Green List (High Evidence).
Retinitis pigmentosa v1.3 SAXO6 Zornitza Stark Classified gene: SAXO6 as Green List (high evidence)
Retinitis pigmentosa v1.3 SAXO6 Zornitza Stark Gene: saxo6 has been classified as Green List (High Evidence).
Retinitis pigmentosa v1.2 SAXO6 Zornitza Stark gene: SAXO6 was added
gene: SAXO6 was added to Retinitis pigmentosa. Sources: Literature
Mode of inheritance for gene: SAXO6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAXO6 were set to 41742423
Phenotypes for gene: SAXO6 were set to Retinitis pigmentosa 108, MIM# 621637
Review for gene: SAXO6 was set to GREEN
Added comment: 6 individuals from 5 families reported adult-onset with retinal dystrophy and biallelic variants in the SAXO6 gene. Two individuals were clinically diagnosed with cone-rod dystrophy and the remainder with retinitis pigmentosa.
Sources: Literature
Mendeliome v2.116 DMXL2 Lucy Spencer Mode of inheritance for gene: DMXL2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.115 DMXL2 Lucy Spencer reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v2.0 GYS2 TRAIL SCHN commented on gene: GYS2
Genomic newborn screening: BabyScreen+ v2.0 GUSB TRAIL SCHN commented on gene: GUSB
Genomic newborn screening: BabyScreen+ v2.0 GCH1 TRAIL SCHN commented on gene: GCH1
Genomic newborn screening: BabyScreen+ v2.0 SLC34A3 TRAIL SCHN commented on gene: SLC34A3
Genomic newborn screening: BabyScreen+ v2.0 FGFR3 TRAIL SCHN commented on gene: FGFR3
Genomic newborn screening: BabyScreen+ v2.0 ENPP1 TRAIL SCHN commented on gene: ENPP1
Genomic newborn screening: BabyScreen+ v2.0 TSHB TRAIL SCHN commented on gene: TSHB
Genomic newborn screening: BabyScreen+ v2.0 GLUD1 TRAIL SCHN commented on gene: GLUD1
Genomic newborn screening: BabyScreen+ v2.0 HK1 TRAIL SCHN commented on gene: HK1
Genomic newborn screening: BabyScreen+ v2.0 FOXA2 TRAIL SCHN commented on gene: FOXA2
Genomic newborn screening: BabyScreen+ v2.0 TSHR TRAIL SCHN commented on gene: TSHR
Genomic newborn screening: BabyScreen+ v2.0 PAX8 TRAIL SCHN commented on gene: PAX8
Genomic newborn screening: BabyScreen+ v2.0 TUBB1 TRAIL SCHN commented on gene: TUBB1
Genomic newborn screening: BabyScreen+ v2.0 SLC26A7 TRAIL SCHN commented on gene: SLC26A7
Genomic newborn screening: BabyScreen+ v2.0 CDCA8 TRAIL SCHN commented on gene: CDCA8
Genomic newborn screening: BabyScreen+ v2.0 NR5A1 TRAIL SCHN commented on gene: NR5A1
Genomic newborn screening: BabyScreen+ v2.0 MPI TRAIL SCHN commented on gene: MPI
Genomic newborn screening: BabyScreen+ v2.0 MOCS1 TRAIL SCHN commented on gene: MOCS1
Genomic newborn screening: BabyScreen+ v2.0 BSND TRAIL SCHN commented on gene: BSND
Genomic newborn screening: BabyScreen+ v2.0 G6PD TRAIL SCHN commented on gene: G6PD
Genomic newborn screening: BabyScreen+ v2.0 PGM1 TRAIL SCHN commented on gene: PGM1
Genomic newborn screening: BabyScreen+ v2.0 PDP1 TRAIL SCHN commented on gene: PDP1
Genomic newborn screening: BabyScreen+ v2.0 PDHX TRAIL SCHN commented on gene: PDHX
Genomic newborn screening: BabyScreen+ v2.0 PDHB TRAIL SCHN commented on gene: PDHB
Genomic newborn screening: BabyScreen+ v2.0 PDHA1 TRAIL SCHN commented on gene: PDHA1
Genomic newborn screening: BabyScreen+ v2.0 PCBD1 TRAIL SCHN commented on gene: PCBD1
Genomic newborn screening: BabyScreen+ v2.0 PC TRAIL SCHN commented on gene: PC
Genomic newborn screening: BabyScreen+ v2.0 OXCT1 TRAIL SCHN commented on gene: OXCT1
Genomic newborn screening: BabyScreen+ v2.0 OAT TRAIL SCHN commented on gene: OAT
Genomic newborn screening: BabyScreen+ v2.0 MLYCD TRAIL SCHN commented on gene: MLYCD
Genomic newborn screening: BabyScreen+ v2.0 MAN2B1 TRAIL SCHN commented on gene: MAN2B1
Genomic newborn screening: BabyScreen+ v2.0 LPL TRAIL SCHN commented on gene: LPL
Genomic newborn screening: BabyScreen+ v2.0 IDS TRAIL SCHN commented on gene: IDS
Genomic newborn screening: BabyScreen+ v2.0 ADGRV1 TRAIL SCHN commented on gene: ADGRV1
Genomic newborn screening: BabyScreen+ v2.0 USH2A TRAIL SCHN commented on gene: USH2A
Genomic newborn screening: BabyScreen+ v2.0 GBA1 TRAIL SCHN commented on gene: GBA1
Genomic newborn screening: BabyScreen+ v2.0 GATM TRAIL SCHN commented on gene: GATM
Genomic newborn screening: BabyScreen+ v2.0 GAMT TRAIL SCHN commented on gene: GAMT
Genomic newborn screening: BabyScreen+ v2.0 FUCA1 TRAIL SCHN commented on gene: FUCA1
Genomic newborn screening: BabyScreen+ v2.0 FOLR1 TRAIL SCHN commented on gene: FOLR1
Genomic newborn screening: BabyScreen+ v2.0 FLAD1 TRAIL SCHN commented on gene: FLAD1
Genomic newborn screening: BabyScreen+ v2.0 DNAJC12 TRAIL SCHN commented on gene: DNAJC12
Genomic newborn screening: BabyScreen+ v2.0 DLAT TRAIL SCHN commented on gene: DLAT
Genomic newborn screening: BabyScreen+ v2.0 DHFR TRAIL SCHN commented on gene: DHFR
Genomic newborn screening: BabyScreen+ v2.0 CYP27A1 TRAIL SCHN commented on gene: CYP27A1
Genomic newborn screening: BabyScreen+ v2.0 COQ8A TRAIL SCHN commented on gene: COQ8A
Genomic newborn screening: BabyScreen+ v2.0 COQ6 TRAIL SCHN commented on gene: COQ6
Genomic newborn screening: BabyScreen+ v2.0 COQ4 TRAIL SCHN commented on gene: COQ4
Genomic newborn screening: BabyScreen+ v2.0 COQ2 TRAIL SCHN commented on gene: COQ2
Genomic newborn screening: BabyScreen+ v2.0 AHCY TRAIL SCHN commented on gene: AHCY
Genomic newborn screening: BabyScreen+ v2.0 ACAT1 TRAIL SCHN commented on gene: ACAT1
Genomic newborn screening: BabyScreen+ v2.0 SMN1 TRAIL SCHN commented on gene: SMN1
Genomic newborn screening: BabyScreen+ v2.0 CTNS TRAIL SCHN commented on gene: CTNS
Genomic newborn screening: BabyScreen+ v2.0 COL4A5 TRAIL SCHN commented on gene: COL4A5
Genomic newborn screening: BabyScreen+ v2.0 COL4A4 TRAIL SCHN commented on gene: COL4A4
Genomic newborn screening: BabyScreen+ v2.0 COL4A3 TRAIL SCHN commented on gene: COL4A3
Genomic newborn screening: BabyScreen+ v2.0 PCSK9 TRAIL SCHN commented on gene: PCSK9
Genomic newborn screening: BabyScreen+ v2.0 LDLR TRAIL SCHN commented on gene: LDLR
Genomic newborn screening: BabyScreen+ v2.0 KCNH2 TRAIL SCHN commented on gene: KCNH2
Genomic newborn screening: BabyScreen+ v2.0 KCNQ1 TRAIL SCHN commented on gene: KCNQ1
Genomic newborn screening: BabyScreen+ v2.0 RYR2 TRAIL SCHN commented on gene: RYR2
Genomic newborn screening: BabyScreen+ v2.0 EDN3 TRAIL SCHN commented on gene: EDN3
Genomic newborn screening: BabyScreen+ v2.0 EDNRB TRAIL SCHN commented on gene: EDNRB
Genomic newborn screening: BabyScreen+ v2.0 MITF TRAIL SCHN commented on gene: MITF
Genomic newborn screening: BabyScreen+ v2.0 PAX3 TRAIL SCHN commented on gene: PAX3
Genomic newborn screening: BabyScreen+ v2.0 USH1G TRAIL SCHN Deleted their comment
Genomic newborn screening: BabyScreen+ v2.0 USH1G TRAIL SCHN commented on gene: USH1G: Please tag as "TRAIL Study"
Genomic newborn screening: BabyScreen+ v2.0 USH1C TRAIL SCHN commented on gene: USH1C
Genomic newborn screening: BabyScreen+ v2.0 TRIOBP TRAIL SCHN commented on gene: TRIOBP
Genomic newborn screening: BabyScreen+ v2.0 TPRN TRAIL SCHN commented on gene: TPRN
Genomic newborn screening: BabyScreen+ v2.0 TMPRSS3 TRAIL SCHN commented on gene: TMPRSS3
Genomic newborn screening: BabyScreen+ v2.0 EPS8 TRAIL SCHN commented on gene: EPS8
Genomic newborn screening: BabyScreen+ v2.0 TMIE TRAIL SCHN commented on gene: TMIE
Genomic newborn screening: BabyScreen+ v2.0 TMC1 TRAIL SCHN commented on gene: TMC1
Genomic newborn screening: BabyScreen+ v2.0 TECTA TRAIL SCHN commented on gene: TECTA
Genomic newborn screening: BabyScreen+ v2.0 SLITRK6 TRAIL SCHN commented on gene: SLITRK6
Genomic newborn screening: BabyScreen+ v2.0 SLC26A4 TRAIL SCHN commented on gene: SLC26A4
Genomic newborn screening: BabyScreen+ v2.0 S1PR2 TRAIL SCHN commented on gene: S1PR2
Genomic newborn screening: BabyScreen+ v2.0 RDX TRAIL SCHN commented on gene: RDX
Genomic newborn screening: BabyScreen+ v2.0 PTPRQ TRAIL SCHN commented on gene: PTPRQ
Genomic newborn screening: BabyScreen+ v2.0 POU3F4 TRAIL SCHN commented on gene: POU3F4
Genomic newborn screening: BabyScreen+ v2.0 USH1G TRAIL SCHN commented on gene: USH1G
Genomic newborn screening: BabyScreen+ v2.0 OTOGL TRAIL SCHN commented on gene: OTOGL
Genomic newborn screening: BabyScreen+ v2.0 OTOG TRAIL SCHN commented on gene: OTOG
Genomic newborn screening: BabyScreen+ v2.0 OTOF TRAIL SCHN commented on gene: OTOF
Genomic newborn screening: BabyScreen+ v2.0 OTOA TRAIL SCHN commented on gene: OTOA
Genomic newborn screening: BabyScreen+ v2.0 MYO7A TRAIL SCHN commented on gene: MYO7A
Genomic newborn screening: BabyScreen+ v2.0 MYO6 TRAIL SCHN commented on gene: MYO6
Genomic newborn screening: BabyScreen+ v2.0 MYO3A TRAIL SCHN commented on gene: MYO3A
Genomic newborn screening: BabyScreen+ v2.0 MYO15A TRAIL SCHN commented on gene: MYO15A
Genomic newborn screening: BabyScreen+ v2.0 MARVELD2 TRAIL SCHN commented on gene: MARVELD2
Genomic newborn screening: BabyScreen+ v2.0 LRTOMT TRAIL SCHN commented on gene: LRTOMT
Genomic newborn screening: BabyScreen+ v2.0 LOXHD1 TRAIL SCHN commented on gene: LOXHD1
Genomic newborn screening: BabyScreen+ v2.0 LHFPL5 TRAIL SCHN commented on gene: LHFPL5
Genomic newborn screening: BabyScreen+ v2.0 ILDR1 TRAIL SCHN commented on gene: ILDR1
Genomic newborn screening: BabyScreen+ v2.0 HGF TRAIL SCHN commented on gene: HGF
Genomic newborn screening: BabyScreen+ v2.0 WHRN TRAIL SCHN commented on gene: WHRN
Genomic newborn screening: BabyScreen+ v2.0 GRXCR1 TRAIL SCHN commented on gene: GRXCR1
Genomic newborn screening: BabyScreen+ v2.0 GJB2 TRAIL SCHN commented on gene: GJB2
Genomic newborn screening: BabyScreen+ v2.0 FGF3 TRAIL SCHN commented on gene: FGF3
Genomic newborn screening: BabyScreen+ v2.0 COCH TRAIL SCHN commented on gene: COCH
Genomic newborn screening: BabyScreen+ v2.0 CABP2 TRAIL SCHN commented on gene: CABP2
Genomic newborn screening: BabyScreen+ v2.0 PDZD7 TRAIL SCHN commented on gene: PDZD7
Genomic newborn screening: BabyScreen+ v2.0 COL11A2 TRAIL SCHN commented on gene: COL11A2
Genomic newborn screening: BabyScreen+ v2.0 CIB2 TRAIL SCHN commented on gene: CIB2
Genomic newborn screening: BabyScreen+ v2.0 ESPN TRAIL SCHN commented on gene: ESPN
Genomic newborn screening: BabyScreen+ v2.0 ESRRB TRAIL SCHN commented on gene: ESRRB
Genomic newborn screening: BabyScreen+ v2.0 CDC14A TRAIL SCHN commented on gene: CDC14A
Genomic newborn screening: BabyScreen+ v2.0 CLDN14 TRAIL SCHN commented on gene: CLDN14
Genomic newborn screening: BabyScreen+ v2.0 GIPC3 TRAIL SCHN commented on gene: GIPC3
Genomic newborn screening: BabyScreen+ v2.0 GREB1L TRAIL SCHN commented on gene: GREB1L
Genomic newborn screening: BabyScreen+ v2.0 FOXE1 TRAIL SCHN commented on gene: FOXE1
Genomic newborn screening: BabyScreen+ v2.0 WT1 TRAIL SCHN commented on gene: WT1
Genomic newborn screening: BabyScreen+ v2.0 VHL TRAIL SCHN commented on gene: VHL
Genomic newborn screening: BabyScreen+ v2.0 RB1 TRAIL SCHN commented on gene: RB1
Genomic newborn screening: BabyScreen+ v2.0 RET TRAIL SCHN commented on gene: RET
Genomic newborn screening: BabyScreen+ v2.0 TP53 TRAIL SCHN commented on gene: TP53
Genomic newborn screening: BabyScreen+ v2.0 DICER1 TRAIL SCHN commented on gene: DICER1
Genomic newborn screening: BabyScreen+ v2.0 MSH2 TRAIL SCHN Deleted their comment
Genomic newborn screening: BabyScreen+ v2.0 MSH2 TRAIL SCHN commented on gene: MSH2: Please tag as "TRAIL Study"
Genomic newborn screening: BabyScreen+ v2.0 MLH1 TRAIL SCHN commented on gene: MLH1
Genomic newborn screening: BabyScreen+ v2.0 MSH6 TRAIL SCHN commented on gene: MSH6
Genomic newborn screening: BabyScreen+ v2.0 MSH2 TRAIL SCHN commented on gene: MSH2
Genomic newborn screening: BabyScreen+ v2.0 PTCH1 TRAIL SCHN commented on gene: PTCH1
Genomic newborn screening: BabyScreen+ v2.0 ABCD1 TRAIL SCHN commented on gene: ABCD1
Genomic newborn screening: BabyScreen+ v2.0 SLC2A1 TRAIL SCHN commented on gene: SLC2A1
Genomic newborn screening: BabyScreen+ v2.0 SLC25A15 TRAIL SCHN commented on gene: SLC25A15
Genomic newborn screening: BabyScreen+ v2.0 SPR TRAIL SCHN commented on gene: SPR
Genomic newborn screening: BabyScreen+ v2.0 CAD TRAIL SCHN commented on gene: CAD
Genomic newborn screening: BabyScreen+ v2.0 ALDH7A1 TRAIL SCHN commented on gene: ALDH7A1
Genomic newborn screening: BabyScreen+ v2.0 QDPR TRAIL SCHN commented on gene: QDPR
Genomic newborn screening: BabyScreen+ v2.0 PTS TRAIL SCHN commented on gene: PTS
Genomic newborn screening: BabyScreen+ v2.0 PNPO TRAIL SCHN commented on gene: PNPO
Genomic newborn screening: BabyScreen+ v2.0 OTC TRAIL SCHN commented on gene: OTC
Genomic newborn screening: BabyScreen+ v2.0 MTRR TRAIL SCHN commented on gene: MTRR
Genomic newborn screening: BabyScreen+ v2.0 MTR TRAIL SCHN commented on gene: MTR
Genomic newborn screening: BabyScreen+ v2.0 ABCD4 TRAIL SCHN commented on gene: ABCD4
Genomic newborn screening: BabyScreen+ v2.0 LMBRD1 TRAIL SCHN commented on gene: LMBRD1
Genomic newborn screening: BabyScreen+ v2.0 MMADHC TRAIL SCHN commented on gene: MMADHC
Genomic newborn screening: BabyScreen+ v2.0 MMACHC TRAIL SCHN commented on gene: MMACHC
Genomic newborn screening: BabyScreen+ v2.0 MMAB TRAIL SCHN commented on gene: MMAB
Genomic newborn screening: BabyScreen+ v2.0 MMAA TRAIL SCHN commented on gene: MMAA
Genomic newborn screening: BabyScreen+ v2.0 SBDS TRAIL SCHN commented on gene: SBDS
Genomic newborn screening: BabyScreen+ v2.0 BTK TRAIL SCHN commented on gene: BTK
Genomic newborn screening: BabyScreen+ v2.0 DOCK8 TRAIL SCHN commented on gene: DOCK8
Genomic newborn screening: BabyScreen+ v2.0 IKZF1 TRAIL SCHN commented on gene: IKZF1
Genomic newborn screening: BabyScreen+ v2.0 LRBA TRAIL SCHN commented on gene: LRBA
Genomic newborn screening: BabyScreen+ v2.0 CD19 TRAIL SCHN commented on gene: CD19
Genomic newborn screening: BabyScreen+ v2.0 ICOS TRAIL SCHN commented on gene: ICOS
Genomic newborn screening: BabyScreen+ v2.0 MAGT1 TRAIL SCHN commented on gene: MAGT1
Genomic newborn screening: BabyScreen+ v2.0 IL2RB TRAIL SCHN commented on gene: IL2RB
Genomic newborn screening: BabyScreen+ v2.0 IL21R TRAIL SCHN commented on gene: IL21R
Genomic newborn screening: BabyScreen+ v2.0 IL2RA TRAIL SCHN commented on gene: IL2RA
Genomic newborn screening: BabyScreen+ v2.0 DOCK2 TRAIL SCHN commented on gene: DOCK2
Genomic newborn screening: BabyScreen+ v2.0 STIM1 TRAIL SCHN commented on gene: STIM1
Genomic newborn screening: BabyScreen+ v2.0 ORAI1 TRAIL SCHN commented on gene: ORAI1
Genomic newborn screening: BabyScreen+ v2.0 CORO1A TRAIL SCHN commented on gene: CORO1A
Genomic newborn screening: BabyScreen+ v2.0 STAT3 TRAIL SCHN commented on gene: STAT3
Genomic newborn screening: BabyScreen+ v2.0 UNC13D TRAIL SCHN commented on gene: UNC13D
Genomic newborn screening: BabyScreen+ v2.0 PTPRC TRAIL SCHN commented on gene: PTPRC
Genomic newborn screening: BabyScreen+ v2.0 IL7R TRAIL SCHN commented on gene: IL7R
Genomic newborn screening: BabyScreen+ v2.0 LYST TRAIL SCHN commented on gene: LYST
Genomic newborn screening: BabyScreen+ v2.0 GATA2 TRAIL SCHN commented on gene: GATA2
Genomic newborn screening: BabyScreen+ v2.0 G6PC3 TRAIL SCHN commented on gene: G6PC3
Genomic newborn screening: BabyScreen+ v2.0 ELANE TRAIL SCHN commented on gene: ELANE
Genomic newborn screening: BabyScreen+ v2.0 AIRE TRAIL SCHN commented on gene: AIRE
Genomic newborn screening: BabyScreen+ v2.0 DCLRE1C TRAIL SCHN commented on gene: DCLRE1C
Genomic newborn screening: BabyScreen+ v2.0 RAG2 TRAIL SCHN commented on gene: RAG2
Genomic newborn screening: BabyScreen+ v2.0 RAG1 TRAIL SCHN commented on gene: RAG1
Genomic newborn screening: BabyScreen+ v2.0 ADA TRAIL SCHN commented on gene: ADA
Genomic newborn screening: BabyScreen+ v2.0 IL2RG TRAIL SCHN commented on gene: IL2RG
Genomic newborn screening: BabyScreen+ v2.0 TPP1 TRAIL SCHN commented on gene: TPP1
Genomic newborn screening: BabyScreen+ v2.0 DDC TRAIL SCHN commented on gene: DDC
Genomic newborn screening: BabyScreen+ v2.0 ARSB TRAIL SCHN commented on gene: ARSB
Genomic newborn screening: BabyScreen+ v2.0 ARSA TRAIL SCHN commented on gene: ARSA
Genomic newborn screening: BabyScreen+ v2.0 ABCG5 TRAIL SCHN commented on gene: ABCG5
Genomic newborn screening: BabyScreen+ v2.0 TPK1 TRAIL SCHN commented on gene: TPK1
Genomic newborn screening: BabyScreen+ v2.0 TCN2 TRAIL SCHN commented on gene: TCN2
Genomic newborn screening: BabyScreen+ v2.0 JAK3 TRAIL SCHN commented on gene: JAK3
Genomic newborn screening: BabyScreen+ v2.0 TANGO2 TRAIL SCHN commented on gene: TANGO2
Genomic newborn screening: BabyScreen+ v2.0 SLC7A7 TRAIL SCHN commented on gene: SLC7A7
Genomic newborn screening: BabyScreen+ v2.0 SLC5A6 TRAIL SCHN commented on gene: SLC5A6
Genomic newborn screening: BabyScreen+ v2.0 SLC52A3 TRAIL SCHN commented on gene: SLC52A3
Genomic newborn screening: BabyScreen+ v2.0 SLC52A2 TRAIL SCHN commented on gene: SLC52A2
Genomic newborn screening: BabyScreen+ v2.0 SLC46A1 TRAIL SCHN commented on gene: SLC46A1
Genomic newborn screening: BabyScreen+ v2.0 SLC39A4 TRAIL SCHN commented on gene: SLC39A4
Genomic newborn screening: BabyScreen+ v2.0 SLC39A8 TRAIL SCHN commented on gene: SLC39A8
Genomic newborn screening: BabyScreen+ v2.0 SLC35A2 TRAIL SCHN commented on gene: SLC35A2
Genomic newborn screening: BabyScreen+ v2.0 SLC19A2 TRAIL SCHN commented on gene: SLC19A2
Genomic newborn screening: BabyScreen+ v2.0 SLC19A3 TRAIL SCHN commented on gene: SLC19A3
Genomic newborn screening: BabyScreen+ v2.0 SLC25A13 TRAIL SCHN commented on gene: SLC25A13
Genomic newborn screening: BabyScreen+ v2.0 SLC25A19 TRAIL SCHN commented on gene: SLC25A19
Genomic newborn screening: BabyScreen+ v2.0 SLC30A10 TRAIL SCHN commented on gene: SLC30A10
Genomic newborn screening: BabyScreen+ v2.0 PYGL TRAIL SCHN commented on gene: PYGL
Genomic newborn screening: BabyScreen+ v2.0 PHKG2 TRAIL SCHN commented on gene: PHKG2
Genomic newborn screening: BabyScreen+ v2.0 PHKB TRAIL SCHN commented on gene: PHKB
Genomic newborn screening: BabyScreen+ v2.0 PHKA2 TRAIL SCHN commented on gene: PHKA2
Genomic newborn screening: BabyScreen+ v2.0 LIPA TRAIL SCHN commented on gene: LIPA
Genomic newborn screening: BabyScreen+ v2.0 TAT TRAIL SCHN commented on gene: TAT
Genomic newborn screening: BabyScreen+ v2.0 SLC37A4 TRAIL SCHN commented on gene: SLC37A4
Genomic newborn screening: BabyScreen+ v2.0 PCCB TRAIL SCHN commented on gene: PCCB
Genomic newborn screening: BabyScreen+ v2.0 PCCA TRAIL SCHN commented on gene: PCCA
Genomic newborn screening: BabyScreen+ v2.0 PAH TRAIL SCHN commented on gene: PAH
Genomic newborn screening: BabyScreen+ v2.0 BCKDHB TRAIL SCHN commented on gene: BCKDHB
Genomic newborn screening: BabyScreen+ v2.0 BCKDHA TRAIL SCHN commented on gene: BCKDHA
Genomic newborn screening: BabyScreen+ v2.0 NAGS TRAIL SCHN commented on gene: NAGS
Genomic newborn screening: BabyScreen+ v2.0 CA5A TRAIL SCHN commented on gene: CA5A
Genomic newborn screening: BabyScreen+ v2.0 CA12 TRAIL SCHN commented on gene: CA12
Genomic newborn screening: BabyScreen+ v2.0 BCKDK TRAIL SCHN commented on gene: BCKDK
Genomic newborn screening: BabyScreen+ v2.0 FBP1 TRAIL SCHN commented on gene: FBP1
Genomic newborn screening: BabyScreen+ v2.0 SLC22A5 TRAIL SCHN commented on gene: SLC22A5
Genomic newborn screening: BabyScreen+ v2.0 SLC25A20 TRAIL SCHN commented on gene: SLC25A20
Genomic newborn screening: BabyScreen+ v2.0 IVD TRAIL SCHN commented on gene: IVD
Genomic newborn screening: BabyScreen+ v2.0 GALE TRAIL SCHN commented on gene: GALE
Genomic newborn screening: BabyScreen+ v2.0 AGL TRAIL SCHN commented on gene: AGL
Genomic newborn screening: BabyScreen+ v2.0 ACAD9 TRAIL SCHN commented on gene: ACAD9
Genomic newborn screening: BabyScreen+ v2.0 IDUA TRAIL SCHN commented on gene: IDUA
Genomic newborn screening: BabyScreen+ v2.0 HLCS TRAIL SCHN commented on gene: HLCS
Genomic newborn screening: BabyScreen+ v2.0 HADHB TRAIL SCHN commented on gene: HADHB
Genomic newborn screening: BabyScreen+ v2.0 HADHA TRAIL SCHN commented on gene: HADHA
Genomic newborn screening: BabyScreen+ v2.0 HADH TRAIL SCHN commented on gene: HADH
Genomic newborn screening: BabyScreen+ v2.0 GCDH TRAIL SCHN commented on gene: GCDH
Genomic newborn screening: BabyScreen+ v2.0 GALT TRAIL SCHN commented on gene: GALT
Genomic newborn screening: BabyScreen+ v2.0 GAA TRAIL SCHN commented on gene: GAA
Genomic newborn screening: BabyScreen+ v2.0 FAH TRAIL SCHN commented on gene: FAH
Genomic newborn screening: BabyScreen+ v2.0 ETFDH TRAIL SCHN commented on gene: ETFDH
Genomic newborn screening: BabyScreen+ v2.0 ETFB TRAIL SCHN commented on gene: ETFB
Genomic newborn screening: BabyScreen+ v2.0 ETFA TRAIL SCHN commented on gene: ETFA
Genomic newborn screening: BabyScreen+ v2.0 CPT2 TRAIL SCHN commented on gene: CPT2
Genomic newborn screening: BabyScreen+ v2.0 CPT1A TRAIL SCHN commented on gene: CPT1A
Genomic newborn screening: BabyScreen+ v2.0 CPS1 TRAIL SCHN commented on gene: CPS1
Genomic newborn screening: BabyScreen+ v2.0 CFTR TRAIL SCHN commented on gene: CFTR
Genomic newborn screening: BabyScreen+ v2.0 CBS TRAIL SCHN reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 GALNS TRAIL SCHN reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v2.22 TMEM63B Zornitza Stark Phenotypes for gene: TMEM63B were changed from Developmental and epileptic encephalopathy 118, MIM# 621250 to Developmental and epileptic encephalopathy 118, MIM# 621250; Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related
Intellectual disability syndromic and non-syndromic v2.21 TMEM63B Zornitza Stark Publications for gene: TMEM63B were set to 37421948
Intellectual disability syndromic and non-syndromic v2.20 TMEM63B Zornitza Stark Mode of inheritance for gene: TMEM63B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.19 TMEM63B Zornitza Stark edited their review of gene: TMEM63B: Added comment: PMID: 42259295 Chan et al 2026 report five individuals from four unrelated families with childhood interstitial lung disease and biallelic predicted loss-of-function variants in TMEM63B. Other phenotypic characteristics include moderate/severe developmental delay (5/5), white matter changes, (1/5), mild global atrophy on brain imaging (1/5) and severe short stature (2/5). None of the individuals had epilepsy or hearing loss. Individuals were from Saudi Arabian, Malay, European and Native American ethnicities. 5 different variants were reported including nonsense, frameshift and splice donor variants. The authors report that while there are 53 TMEM63B pLoF variants in gnomAD v.4.1.0 database none are in the homozygous state. Histopathological examination of lung tissue also showed a pattern consistent with surfactant dysfunction. The authors conclude that biallelic loss of function variants result in a distinct pulmonary-predominant phenotype characterized by hypoxaemia, early-onset respiratory failure, histological features of surfactant dysfunction, and chest imaging consistent with chILD.; Changed publications: 37421948, 42259295; Changed phenotypes: Developmental and epileptic encephalopathy 118, MIM# 621250, Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.19 Zornitza Stark Added reviews for gene TMEM63B from panel Pulmonary Fibrosis_Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v2.2 TMEM63B Zornitza Stark Marked gene: TMEM63B as ready
Pulmonary Fibrosis_Interstitial Lung Disease v2.2 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v2.2 TMEM63B Zornitza Stark Classified gene: TMEM63B as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v2.2 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v2.1 TMEM63B Zornitza Stark gene: TMEM63B was added
gene: TMEM63B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: TMEM63B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM63B were set to 42259295
Phenotypes for gene: TMEM63B were set to Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related
Review for gene: TMEM63B was set to GREEN
Added comment: PMID: 42259295 Chan et al 2026 report five individuals from four unrelated families with childhood interstitial lung disease and biallelic predicted loss-of-function variants in TMEM63B. Other phenotypic characteristics include moderate/severe developmental delay (5/5), white matter changes, (1/5), mild global atrophy on brain imaging (1/5) and severe short stature (2/5). None of the individuals had epilepsy or hearing loss. Individuals were from Saudi Arabian, Malay, European and Native American ethnicities. 5 different variants were reported including nonsense, frameshift and splice donor variants. The authors report that while there are 53 TMEM63B pLoF variants in gnomAD v.4.1.0 database none are in the homozygous state. Histopathological examination of lung tissue also showed a pattern consistent with surfactant dysfunction. The authors conclude that biallelic loss of function variants result in a distinct pulmonary-predominant phenotype characterized by hypoxaemia, early-onset respiratory failure, histological features of surfactant dysfunction, and chest imaging consistent with chILD.
Sources: Literature
Mendeliome v2.115 TMEM63B Zornitza Stark Phenotypes for gene: TMEM63B were changed from Developmental and epileptic encephalopathy 118, MIM#621250 to Developmental and epileptic encephalopathy 118, MIM#621250; Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related
Mendeliome v2.114 TMEM63B Zornitza Stark Publications for gene: TMEM63B were set to 37421948
Mendeliome v2.113 TMEM63B Zornitza Stark Mode of inheritance for gene: TMEM63B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.112 TMEM63B Zornitza Stark reviewed gene: TMEM63B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v2.9 ARHGEF15 Bryony Thompson Marked gene: ARHGEF15 as ready
Early-onset Dementia v2.9 ARHGEF15 Bryony Thompson Gene: arhgef15 has been classified as Green List (High Evidence).
Early-onset Dementia v2.9 ARHGEF15 Bryony Thompson Classified gene: ARHGEF15 as Green List (high evidence)
Early-onset Dementia v2.9 ARHGEF15 Bryony Thompson Gene: arhgef15 has been classified as Green List (High Evidence).
Early-onset Dementia v2.8 ARHGEF15 Bryony Thompson gene: ARHGEF15 was added
gene: ARHGEF15 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: ARHGEF15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGEF15 were set to 36929019
Phenotypes for gene: ARHGEF15 were set to brain small vessel disease 5 with osteoporosis MONDO:0979880
Review for gene: ARHGEF15 was set to GREEN
Added comment: PMID 36929019 reports 7 individuals from 4 families (3 independent) with autosomal dominant loss-of-function ARHGEF15 variants presenting with hereditary cerebral small vessel disease, adult‑onset cognitive impairment and osteoporotic fractures. This vascular‑cognitive phenotype aligns with the Early‑onset Dementia panel’s focus on cognitive impairment and dementia, supporting inclusion of ARHGEF15 on the panel.
Sources: Literature
Early-onset Dementia v2.7 ADAM17 Bryony Thompson Marked gene: ADAM17 as ready
Early-onset Dementia v2.7 ADAM17 Bryony Thompson Gene: adam17 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v2.7 ADAM17 Bryony Thompson Classified gene: ADAM17 as Amber List (moderate evidence)
Early-onset Dementia v2.7 ADAM17 Bryony Thompson Gene: adam17 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v2.6 ADAM17 Bryony Thompson gene: ADAM17 was added
gene: ADAM17 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: ADAM17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAM17 were set to 29988083
Phenotypes for gene: ADAM17 were set to Alzheimer disease MONDO:0004975
Review for gene: ADAM17 was set to AMBER
Added comment: PMID 29988083 reports nine individuals from six families carrying a single heterozygous ADAM17 p.R215I missense variants that co‑segregate with autosomal‑dominant late‑onset Alzheimer disease; functional assays show loss‑of‑function.
Sources: Literature
Early-onset Dementia v2.5 ABCD1 Bryony Thompson Marked gene: ABCD1 as ready
Early-onset Dementia v2.5 ABCD1 Bryony Thompson Gene: abcd1 has been classified as Green List (High Evidence).
Early-onset Dementia v2.5 ABCD1 Bryony Thompson Classified gene: ABCD1 as Green List (high evidence)
Early-onset Dementia v2.5 ABCD1 Bryony Thompson Gene: abcd1 has been classified as Green List (High Evidence).
Early-onset Dementia v2.4 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: ABCD1 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: ABCD1 were set to 41094371; 40256457; 37247117; 36407291; 30546814
Phenotypes for gene: ABCD1 were set to X-linked cerebral adrenoleukodystrophy, MONDO:0010247
Review for gene: ABCD1 was set to GREEN
Added comment: PMID 37247117, PMID 40256457, PMID 30546814, PMID 41094371 and PMID 36407291 report a total of 21 individuals from 5 families with loss‑of‑function ABCD1 variants presenting with adult‑onset cerebral X‑linked adrenoleukodystrophy characterised by progressive cognitive decline, frontal‑lobe dysfunction and, in some cases, spastic paraparesis and adrenal insufficiency. This monogenic X‑linked disorder is diagnosable by VLCFA elevation and ABCD1 sequencing, fitting the Early‑onset Dementia panel’s focus on early cognitive impairment and neurodegenerative disease.
Sources: Literature
Early-onset Dementia v2.3 AARS2 Bryony Thompson Marked gene: AARS2 as ready
Early-onset Dementia v2.3 AARS2 Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence).
Early-onset Dementia v2.3 AARS2 Bryony Thompson Classified gene: AARS2 as Green List (high evidence)
Early-onset Dementia v2.3 AARS2 Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence).
Early-onset Dementia v2.2 AARS2 Bryony Thompson gene: AARS2 was added
gene: AARS2 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 39853526; 31099476; 28334938
Phenotypes for gene: AARS2 were set to leukoencephalopathy, progressive, with ovarian failure, MONDO:0014387
Review for gene: AARS2 was set to GREEN
Added comment: PMID 31099476 reports three families with biallelic loss‑of‑function AARS2 variants causing adult‑onset leukoencephalopathy with progressive cognitive decline, psychiatric symptoms and motor deterioration; PMID 39853526 adds six families with a similar leukoencephalopathy, cognitive impairment, ataxia and ovarian failure due to biallelic missense variants; PMID 28334938 describes five further families with the same phenotype. > 3 families are reported. The disorder presents with early cognitive decline and leukoencephalopathy.
Sources: Literature
Mandibulofacial Acrofacial dysostosis v2.1 Bryony Thompson Copied gene CDC27 from panel Mendeliome
Mandibulofacial Acrofacial dysostosis v2.1 CDC27 Bryony Thompson gene: CDC27 was added
gene: CDC27 was added to Mandibulofacial Acrofacial dysostosis. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CDC27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC27 were set to 38731925
Phenotypes for gene: CDC27 were set to craniofacial microsomia MONDO:0015397
Deafness_IsolatedAndComplex v2.1 Bryony Thompson Copied gene CDC27 from panel Mendeliome
Deafness_IsolatedAndComplex v2.1 CDC27 Bryony Thompson gene: CDC27 was added
gene: CDC27 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CDC27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC27 were set to 38731925
Phenotypes for gene: CDC27 were set to craniofacial microsomia MONDO:0015397
Angelman Rett like syndromes v2.3 KAT6A Zornitza Stark Classified gene: KAT6A as Amber List (moderate evidence)
Angelman Rett like syndromes v2.3 KAT6A Zornitza Stark Gene: kat6a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v2.0 ACADM Zornitza Stark Tag TRAIL study tag was added to gene: ACADM.
Genomic newborn screening: BabyScreen+ v2.0 ACADVL Zornitza Stark Tag TRAIL study tag was added to gene: ACADVL.
Mendeliome v2.112 CDC27 Bryony Thompson Marked gene: CDC27 as ready
Mendeliome v2.112 CDC27 Bryony Thompson Gene: cdc27 has been classified as Green List (High Evidence).
Mendeliome v2.112 CDC27 Bryony Thompson Classified gene: CDC27 as Green List (high evidence)
Mendeliome v2.112 CDC27 Bryony Thompson Gene: cdc27 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v2.0 DBT Zornitza Stark Tag TRAIL study tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v2.0 ALDOB Zornitza Stark Tag TRAIL study tag was added to gene: ALDOB.
Mendeliome v2.111 CDC27 Bryony Thompson gene: CDC27 was added
gene: CDC27 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDC27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC27 were set to 38731925
Phenotypes for gene: CDC27 were set to craniofacial microsomia MONDO:0015397
Review for gene: CDC27 was set to GREEN
Added comment: PMID 38731925 reports three individuals with de novo heterozygous variants (including missense and a stopgain) in CDC27 presenting with hemifacial microsomia – unilateral microtia, mandibular hypoplasia, facial asymmetry and conductive hearing loss with early‑childhood onset; zebrafish cdc27 knockout recapitulates the craniofacial phenotype and rescue experiments partially restore the defects.
Sources: Literature
Genomic newborn screening: BabyScreen+ v2.0 ARG1 Zornitza Stark Tag TRAIL study tag was added to gene: ARG1.
Genomic newborn screening: BabyScreen+ v2.0 ASL Zornitza Stark Tag TRAIL study tag was added to gene: ASL.
Genomic newborn screening: BabyScreen+ v2.0 ASS1 Zornitza Stark Tag TRAIL study tag was added to gene: ASS1.
Genomic newborn screening: BabyScreen+ v2.0 BTD Zornitza Stark Tag TRAIL study tag was added to gene: BTD.
Genomic newborn screening: BabyScreen+ v2.0 GALK1 Zornitza Stark Tag TRAIL study tag was added to gene: GALK1.
Genomic newborn screening: BabyScreen+ v2.0 GALM Zornitza Stark Tag TRAIL study tag was added to gene: GALM.
Genomic newborn screening: BabyScreen+ v2.0 GALM TRAIL SCHN reviewed gene: GALM: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 GALK1 TRAIL SCHN reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 BTD TRAIL SCHN reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 ASS1 TRAIL SCHN reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 ASL TRAIL SCHN reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 ARG1 TRAIL SCHN reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 ARG1 TRAIL SCHN Deleted their review
Genomic newborn screening: BabyScreen+ v2.0 ARG1 TRAIL SCHN reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 ALDOB TRAIL SCHN reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 DBT TRAIL SCHN reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 ACADVL TRAIL SCHN reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v2.0 ACADM TRAIL SCHN reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
Inflammatory bowel disease v1.1 Sarah Milton Copied gene ST6GALNAC1 from panel Mendeliome
Inflammatory bowel disease v1.1 ST6GALNAC1 Sarah Milton gene: ST6GALNAC1 was added
gene: ST6GALNAC1 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: ST6GALNAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST6GALNAC1 were set to 35303419
Phenotypes for gene: ST6GALNAC1 were set to Inflammatory bowel disease, MONDO:0005265, ST6GALNAC1-related
Mendeliome v2.110 ST6GALNAC1 Sarah Milton gene: ST6GALNAC1 was added
gene: ST6GALNAC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ST6GALNAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST6GALNAC1 were set to 35303419
Phenotypes for gene: ST6GALNAC1 were set to Inflammatory bowel disease, MONDO:0005265, ST6GALNAC1-related
Review for gene: ST6GALNAC1 was set to RED
Added comment: ST6GALNAC1 encodes a protein involved in terminal sialyation of intestinal mucin proteins which act as a barrier, part of innate defenses in the gut.

PMID 35303419 reports 3 individuals from 3 families with biallelic missense variants in ST6GALNAC1 presenting with early onset inflammatory bowel disease. However family 1 were consanguineous, family 2 had unaffected sibling with the same variants, 2 of the missense variants reported in affected individuals had 9 homozygotes in gnomAD v4.
Loss of function was the proposed mechanism with reduced penetrance proposed by the authors.

Functional studies with transfection of a patient variant in mice found no GI abnormalities consistent with IBD however thinning of intestinal mucus was noted.
Cell models supported loss of function for the reported missense variants.

Further papers are required to establish evidence for this gene disease association.
Sources: Literature
Angelman Rett like syndromes v2.2 KAT6A Simran Boparai gene: KAT6A was added
gene: KAT6A was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT6A were set to 33386251
Phenotypes for gene: KAT6A were set to Rett like; KAT6A-related intellectual disability
Penetrance for gene: KAT6A were set to Complete
Mode of pathogenicity for gene: KAT6A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KAT6A was set to AMBER
Added comment: This study evaluated seven individuals with de novo heterozygous variants in exon 17 of KAT6A, who exhibited clinical features overlapping with Rett syndrome. Of the seven, two were classified as having atypical Rett syndrome (Neul’s revised diagnostic criteria), while the remaining five were diagnosed with KAT6A-related intellectual disability presenting with Rett-like features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.18 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder (MONDO:0700092), PIP5K1C-related to Neurodevelopmental disorder with intellectual, visual, and language impairment MIM#621635
Intellectual disability syndromic and non-syndromic v2.17 PIP5K1C Zornitza Stark edited their review of gene: PIP5K1C: Changed phenotypes: Neurodevelopmental disorder with intellectual, visual, and language impairment MIM#621635
Genetic Epilepsy v2.12 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related to Neurodevelopmental disorder with intellectual, visual, and language impairment MIM#621635
Genetic Epilepsy v2.11 PIP5K1C Zornitza Stark edited their review of gene: PIP5K1C: Changed phenotypes: Neurodevelopmental disorder with intellectual, visual, and language impairment MIM#621635
Microcephaly v2.3 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related to Neurodevelopmental disorder with intellectual, visual, and language impairment MIM#621635
Microcephaly v2.2 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with intellectual, visual, and language impairment MIM#621635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.109 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related; Lethal congenital contractural syndrome 3, MIM# 611369 to Neurodevelopmental disorder with intellectual, visual, and language impairment MIM#621635; Lethal congenital contractural syndrome 3, MIM# 611369
Infertility and Recurrent Pregnancy Loss v2.9 Sarah Milton Copied gene DND1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.9 DND1 Sarah Milton gene: DND1 was added
gene: DND1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: DND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DND1 were set to 39999035; 36807972; 36246621; 30439356
Phenotypes for gene: DND1 were set to Infertility disorder, MONDO:0005047, DND1-related
Mendeliome v2.108 DND1 Sarah Milton Classified gene: DND1 as Amber List (moderate evidence)
Mendeliome v2.108 DND1 Sarah Milton Gene: dnd1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.107 DND1 Sarah Milton changed review comment from: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression.

PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Functional studies demonstrated reduced protein expression in cell models transfected with the variant NANOS2 interaction from coimmunoprecipitation.

PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure.

PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia.
Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant.

Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females.

It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required.
Sources: Literature; to: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression.

PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Functional studies demonstrated reduced protein expression in cell models transfected with the variant and reduced NANOS2 interaction from coimmunoprecipitation studies.

PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure.

PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia.
Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant.

Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females.

It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required.
Sources: Literature
Mendeliome v2.107 DND1 Sarah Milton changed review comment from: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression.

PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Demonstrated reduced protein expression in cell models transfected with the variant NANOS2 interaction from coimmunoprecipitation.

PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure.

PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia.
Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant.

Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females.

It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required.
Sources: Literature; to: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression.

PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Functional studies demonstrated reduced protein expression in cell models transfected with the variant NANOS2 interaction from coimmunoprecipitation.

PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure.

PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia.
Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant.

Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females.

It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required.
Sources: Literature
Mendeliome v2.107 DND1 Sarah Milton gene: DND1 was added
gene: DND1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DND1 were set to 39999035; 36807972; 36246621; 30439356
Phenotypes for gene: DND1 were set to Infertility disorder, MONDO:0005047, DND1-related
Review for gene: DND1 was set to AMBER
Added comment: DND1 encodes an RNA‑binding protein thought to be involved in inhibition of microRNA mediated repression.

PMID: 36246621 reported 3 males in one family with a homozygous missense variant in DND1 presenting with azospermia. Demonstrated reduced protein expression in cell models transfected with the variant NANOS2 interaction from coimmunoprecipitation.

PMID: 39999035 reports one female with a biallelic loss of function variant in DND1 presenting with primary ovarian failure.

PMID: 36807972 reports 5 males with 4 different heterozygous variants in DND1 (missense and one frameshift) presenting with azospermia and oligozoospermia.
Functional studies were performed in zebrafish however homozygous knockout was performed with mRNA containing patient variants introduced resulting in abnormal primordial germ cell development. Authors state unclear whether the mechanism of inheritance is autosomal recessive vs semidominant.

Supportive mouse and zebrafish knockout models have been published indicating sterility in male animals and reduced number of oocytes in females.

It appears there is more evidence for the biallelic disease association however given only 2 affected unrelated patients have been published for this MOI more literature is required.
Sources: Literature
Angelman Rett like syndromes v2.2 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Angelman Rett like syndromes v2.2 CHD8 Zornitza Stark Gene: chd8 has been classified as Red List (Low Evidence).
Angelman Rett like syndromes v2.2 CHD8 Zornitza Stark gene: CHD8 was added
gene: CHD8 was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD8 were set to 40496977
Phenotypes for gene: CHD8 were set to Intellectual developmental disorder with autism and macrocephaly #615032
Review for gene: CHD8 was set to RED
Added comment: Single individual reported with a heterozygous stop-gain variant [NM_001170629.2: c.5017C>T, p.(Arg1673⁣∗)], in the chromodomain-helicase-DNA-binding protein 8 (CHD8) gene. In vitro functional analyses, including Western blots, quantitative reverse transcription polymerase chain reaction (qRT-PCR), and proteomic analyses, demonstrated a significant reduction of the CHD8 transcript and two CHD8 protein isoforms in the proband's skin fibroblasts relative to control fibroblasts. Additionally, proteomic analysis indicated a significant reduction of the MeCP2 protein, indicating a possible molecular link between CHD8 and MeCP2 and thus clinically between IDDAM and RTT.
Sources: Literature
Mendeliome v2.106 TMEM63B Eleanor Williams changed review comment from: Heterozygous variants in TMEM63B are associated with Developmental and epileptic encephalopathy 118 (OMIM:621250, accessed 25th Jun 2026) with a gain-of-function mechanism proposed. Variants reported are either missense or an in-frame deletion. The main phenotypic features are severe early-onset developmental and epileptic encephalopathy, intellectual disability, and severe motor and cortical visual impairment associated with progressive neurodegenerative brain changes (PMID: 37421948, doi:10.1016/j.bdcasr.2024.100043). Hearing loss is reported in mouse TMEM63B knockouts PMID: 32375046).

PMID: 42259295 Chan et al 2026 report five individuals from four unrelated families with childhood interstitial lung disease and biallelic predicted loss-of-function variants in TMEM63B. Other phenotypic characteristics include moderate/severe developmental delay (5/5), white matter changes, (1/5), mild global atrophy on brain imaging (1/5) and severe short stature (2/5). None of the individuals had epilepsy or hearing loss. Individuals were from Saudi Arabian, Malay, European and Native American ethnicities. 5 different variants were reported including nonsense, frameshift and splice donor variants. In family A a heterozygous ABCA3 missense variant of unknown significance was also inherited from the mother. Biallelic variants in ABCA3 are associated with Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921.

The authors report that while there are 53 TMEM63B pLoF variants in gnomAD v.4.1.0 database none are in the homozygous state. Histopathological examination of lung tissue also showed a pattern consistent with surfactant dysfunction.

The authors conclude that biallelic loss of function variants result in a distinct pulmonary-predominant phenotype characterized by hypoxemia, early-onset respiratory failure, histological features of surfactant dysfunction, and chest imaging consistent with chILD.; to: Heterozygous variants in TMEM63B are associated with Developmental and epileptic encephalopathy 118 (OMIM:621250, accessed 25th Jun 2026) with a gain-of-function mechanism proposed.

PMID: 42259295 Chan et al 2026 report five individuals from four unrelated families with childhood interstitial lung disease and biallelic predicted loss-of-function variants in TMEM63B. Other phenotypic characteristics include moderate/severe developmental delay (5/5), white matter changes, (1/5), mild global atrophy on brain imaging (1/5) and severe short stature (2/5). None of the individuals had epilepsy or hearing loss. Individuals were from Saudi Arabian, Malay, European and Native American ethnicities. 5 different variants were reported including nonsense, frameshift and splice donor variants. In family A a heterozygous ABCA3 missense variant of unknown significance was also inherited from the mother. Biallelic variants in ABCA3 are associated with Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921.

The authors report that while there are 53 TMEM63B pLoF variants in gnomAD v.4.1.0 database none are in the homozygous state. Histopathological examination of lung tissue also showed a pattern consistent with surfactant dysfunction.

The authors conclude that biallelic loss of function variants result in a distinct pulmonary-predominant phenotype characterized by hypoxemia, early-onset respiratory failure, histological features of surfactant dysfunction, and chest imaging consistent with chILD.
Mendeliome v2.106 TMEM63B Eleanor Williams reviewed gene: TMEM63B: Rating: GREEN; Mode of pathogenicity: None; Publications: 37421948, 42259295, doi:10.1016/j.bdcasr.2024.100043; Phenotypes: Developmental and epileptic encephalopathy 118, MIM:621250, autosomal-recessive TMEM63B-related syndromic surfactant dysfunction disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.0 POPDC1 Zornitza Stark Tag new gene name tag was added to gene: POPDC1.
Mendeliome v2.106 POPDC1 Zornitza Stark Tag new gene name tag was added to gene: POPDC1.
Arrhythmogenic Cardiomyopathy v2.0 POPDC1 Zornitza Stark Tag new gene name tag was added to gene: POPDC1.
Mendeliome v2.106 TBXT Zornitza Stark Tag new gene name tag was added to gene: TBXT.
Genomic newborn screening: BabyScreen+ v2.0 SARS1 Zornitza Stark Tag new gene name tag was added to gene: SARS1.
Hereditary Neuropathy v2.4 SARS1 Zornitza Stark Tag new gene name tag was added to gene: SARS1.
Intellectual disability syndromic and non-syndromic v2.17 SARS1 Zornitza Stark Tag new gene name tag was added to gene: SARS1.
Microcephaly v2.2 SARS1 Zornitza Stark Tag new gene name tag was added to gene: SARS1.
Mendeliome v2.106 SARS1 Zornitza Stark Tag new gene name tag was added to gene: SARS1.
Cholestasis v2.0 DHCR7 Freeman A reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 9024557, 15580635, 20052364, 42232620; Phenotypes: cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.106 DNAH14 Lucy Spencer edited their review of gene: DNAH14: Added comment: PMID: 41596228 reports 2 siblings with teenage-onset balance disorders, ataxia, and impaired cognitive function/intellectual disability, homozygous for Leu1021fs. These siblings also have a pathogenic FXN repeat expansion associated with Freidreich's ataxia. Still quite a few NMD variants with many homozygotes in gnomad v4.

remains red; Changed rating: RED; Changed publications: 41596228
Infertility and Recurrent Pregnancy Loss v2.8 Lucy Spencer Copied gene SPMIP10 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.8 SPMIP10 Lucy Spencer gene: SPMIP10 was added
gene: SPMIP10 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: SPMIP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPMIP10 were set to 42174372
Phenotypes for gene: SPMIP10 were set to Spermatogenic failure, MONDO:0004983, SPMIP10-related
Mendeliome v2.106 SPMIP10 Lucy Spencer gene: SPMIP10 was added
gene: SPMIP10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPMIP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPMIP10 were set to 42174372
Phenotypes for gene: SPMIP10 were set to Spermatogenic failure, MONDO:0004983, SPMIP10-related
Review for gene: SPMIP10 was set to RED
Added comment: PMID: 42174372 - using the gene name alias TEX43. Identified 5 individuals with asthenoteratozoospermia and variants in TEX43 (SPMIP10) . This included one missense Arg37Gln (47 hets in gnomad v4), a variant in the 5'UTR c.-23T>A (>13,000 homs in gnomad) and 2 intronic variants c.86+141G > A and c.196-25C>T (>8000 homs in gnomad). The intronic and UTR variants were observed in different combinations in 4 patients, while the missense variant was observed in one patient and by itself.
Sources: Literature
Common deletion and duplication syndromes v1.2 ISCA-37421-Loss Sarah Milton GRCh38 position for ISCA-37421-Loss was changed from 147105904-147922392 to 147105904-147917509.
Source Expert list was removed from Region: ISCA-37421-Loss.
Source ClinGen was added to Region: ISCA-37421-Loss.
Common deletion and duplication syndromes v1.1 ISCA-37421-Gain Sarah Milton GRCh38 position for ISCA-37421-Gain was changed from 147105904-147922392 to 147105904-147917509.
Source Expert list was removed from Region: ISCA-37421-Gain.
Source ClinGen was added to Region: ISCA-37421-Gain.
Intellectual disability syndromic and non-syndromic v2.17 NRXN1 Sarah Milton edited their review of gene: NRXN1: Changed publications: PMID: 31932357, 40205044, 40126490, 41094379, 41094176, 20468056
Autism v1.5 NRXN1 Sarah Milton edited their review of gene: NRXN1: Changed publications: PMID: 31932357, 40205044, 40126490, 41094379, 41094176, 20468056
Mendeliome v2.105 NRXN1 Sarah Milton edited their review of gene: NRXN1: Changed publications: PMID: 31932357, 40205044, 40126490, 41094379, 41094176, 20468056
Intellectual disability syndromic and non-syndromic v2.17 NRXN1 Sarah Milton Source Genetic Health Queensland was removed from NRXN1.
Source Literature was added to NRXN1.
Mode of inheritance for gene NRXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NRXN1 were changed from Pitt-Hopkins-like syndrome 2 - MIM#614325 to Pitt-Hopkins-like syndrome 2 - MIM#614325; Complex neurodevelopmental disorder, MONDO:0100038, NRXN1-related
Genetic Epilepsy v2.11 NRXN1 Sarah Milton Source Victorian Clinical Genetics Services was removed from NRXN1.
Source Australian Genomics Health Alliance Epilepsy Flagship was removed from NRXN1.
Mode of inheritance for gene NRXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NRXN1 were changed from Pitt-Hopkins-like syndrome 2 - MIM#614325 to Pitt-Hopkins-like syndrome 2 - MIM#614325; Complex neurodevelopmental disorder, MONDO:0100038, NRXN1-related
Autism v1.5 NRXN1 Sarah Milton Source Victorian Clinical Genetics Services was removed from NRXN1.
Mode of inheritance for gene NRXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NRXN1 were changed from Pitt-Hopkins-like syndrome 2 - MIM#614325 to Pitt-Hopkins-like syndrome 2 - MIM#614325; Complex neurodevelopmental disorder, MONDO:0100038, NRXN1-related
Genetic Epilepsy v2.10 Sarah Milton Added reviews for gene NRXN1 from panel Mendeliome
Autism v1.4 Sarah Milton Added reviews for gene NRXN1 from panel Mendeliome
Mendeliome v2.105 NRXN1 Sarah Milton Source Victorian Clinical Genetics Services was removed from NRXN1.
Source Literature was added to NRXN1.
Mode of inheritance for gene NRXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NRXN1 were changed from Pitt-Hopkins-like syndrome 2 - MIM#614325 to Pitt-Hopkins-like syndrome 2 - MIM#614325; Complex neurodevelopmental disorder, MONDO:0100038, NRXN1-related
Intellectual disability syndromic and non-syndromic v2.16 Sarah Milton Added reviews for gene NRXN1 from panel Mendeliome
Mendeliome v2.104 NRXN1 Sarah Milton reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40205044, 40126490, 41094379, 41094176, 20468056; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, NRXN1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v2.4 MADD Sangavi Sivagnanasundram gene: MADD was added
gene: MADD was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MADD were set to 32761064
Phenotypes for gene: MADD were set to hereditary sensory and autonomic neuropathy (HSAN) MONDO:0015364
Review for gene: MADD was set to GREEN
Added comment: PMID 32761064 reports multiple individuals with biallelic MADD variants presenting with hereditary sensory and autonomic neuropathy (HSAN) and a multisystem disorder that includes developmental delay, hypotonia and endocrine/exocrine dysfunction.
Sources: Literature
Hereditary Neuropathy v2.3 IBA57 Sangavi Sivagnanasundram gene: IBA57 was added
gene: IBA57 was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 39227420; 25609768
Phenotypes for gene: IBA57 were set to hereditary spastic paraplegia 74, MONDO:0014644
Review for gene: IBA57 was set to GREEN
Added comment: At least three unrelated families with biallelic variants in IBA57 reported with hereditary spastic paraplegia 74 (SP74), characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade.
Sources: Literature
Mendeliome v2.104 COL4A2 Sangavi Sivagnanasundram Deleted their review
Mendeliome v2.104 Sangavi Sivagnanasundram Added reviews for gene COL4A2 from panel Leukodystrophy
Leukodystrophy v1.0 COL4A2 Sangavi Sivagnanasundram reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36603335, 33912663; Phenotypes: Brain small vessel disease 2B, autosomal recessive, MONDO:0980747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.15 EIPR1 Zornitza Stark Phenotypes for gene: EIPR1 were changed from Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related to Neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections, MIM# 621622
Intellectual disability syndromic and non-syndromic v2.14 EIPR1 Zornitza Stark reviewed gene: EIPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections, MIM# 621622; Mode of inheritance: None
Microcephaly v2.2 EIPR1 Zornitza Stark Phenotypes for gene: EIPR1 were changed from Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related to Neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections, MIM# 621622
Microcephaly v2.1 EIPR1 Zornitza Stark reviewed gene: EIPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections, MIM# 621622; Mode of inheritance: None
Mendeliome v2.103 EIPR1 Zornitza Stark Phenotypes for gene: EIPR1 were changed from Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related to Neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections, MIM# 621622
Mendeliome v2.102 EIPR1 Zornitza Stark reviewed gene: EIPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections, MIM# 621622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.14 SMG5 Zornitza Stark Marked gene: SMG5 as ready
Intellectual disability syndromic and non-syndromic v2.14 SMG5 Zornitza Stark Gene: smg5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v2.14 Zornitza Stark Copied gene SMG5 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.14 SMG5 Zornitza Stark gene: SMG5 was added
gene: SMG5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SMG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG5 were set to 41758221
Phenotypes for gene: SMG5 were set to Neurodevelopmental disorder, MONDO:0700092, SMG5-related
Mendeliome v2.102 SMG5 Zornitza Stark Marked gene: SMG5 as ready
Mendeliome v2.102 SMG5 Zornitza Stark Gene: smg5 has been classified as Red List (Low Evidence).
Mendeliome v2.102 SMG5 Zornitza Stark Phenotypes for gene: SMG5 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, SMG5-related
Mendeliome v2.101 SMG5 Zornitza Stark gene: SMG5 was added
gene: SMG5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG5 were set to 41758221
Phenotypes for gene: SMG5 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: SMG5 was set to RED
Added comment: PMID 41758221 reports 1 individual with biallelic loss-of-function splice‑affecting SMG5 variant associated with developmental delay, severe growth retardation, relative macrocephaly and craniofacial dysmorphism. Functional assays demonstrate exon 21 skipping, ~75% reduction of SMG5 protein, increased cell size, Golgi enlargement and proliferation defects.
Sources: Literature
Ciliopathies v2.1 CEP43 Zornitza Stark Marked gene: CEP43 as ready
Ciliopathies v2.1 CEP43 Zornitza Stark Gene: cep43 has been classified as Amber List (Moderate Evidence).
Ciliopathies v2.1 Zornitza Stark Copied gene CEP43 from panel Mendeliome
Ciliopathies v2.1 CEP43 Zornitza Stark gene: CEP43 was added
gene: CEP43 was added to Ciliopathies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CEP43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP43 were set to 41715205
Phenotypes for gene: CEP43 were set to Ciliopathy, MONDO:0005308, CEP43-related
Mendeliome v2.100 CEP43 Zornitza Stark Marked gene: CEP43 as ready
Mendeliome v2.100 CEP43 Zornitza Stark Gene: cep43 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.100 CEP43 Zornitza Stark Classified gene: CEP43 as Amber List (moderate evidence)
Mendeliome v2.100 CEP43 Zornitza Stark Gene: cep43 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.99 CEP43 Zornitza Stark gene: CEP43 was added
gene: CEP43 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CEP43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP43 were set to 41715205
Phenotypes for gene: CEP43 were set to Ciliopathy, MONDO:0005308, CEP43-related
Review for gene: CEP43 was set to AMBER
Added comment: Bardet‑Biedl syndrome (biallelic, LoF): PMID 41715205 reports a single individual with a homozygous splice‑site CEP43 variant presenting with classic BBS features (post‑axial polydactyly, cone‑rod dystrophy, congenital hip dysplasia, mild intellectual disability, obesity). No parental testing was performed, and functional evidence is limited to a mouse knockout model.

Cone‑rod dystrophy (biallelic, LoF): PMID 41715205 describes one patient from a second family carrying compound heterozygous missense (p.R72H) and splice‑site CEP43 variants with progressive visual loss and retinal pigmentary changes. Inheritance was inferred without segregation data.

Severe skeletal dysplasia (biallelic, LoF): PMID 41715205 reports a fetus from a third family homozygous for missense p.E12V, showing lethal short‑rib thoracic dysplasia. Parental carrier status is not shown.
Sources: Literature
Autoinflammatory Disorders v3.9 CD48 Zornitza Stark Marked gene: CD48 as ready
Autoinflammatory Disorders v3.9 CD48 Zornitza Stark Gene: cd48 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v2.2 CD48 Zornitza Stark Marked gene: CD48 as ready
Disorders of immune dysregulation v2.2 CD48 Zornitza Stark Gene: cd48 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v2.2 Zornitza Stark Copied gene CD48 from panel Mendeliome
Disorders of immune dysregulation v2.2 CD48 Zornitza Stark gene: CD48 was added
gene: CD48 was added to Disorders of immune dysregulation. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CD48 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CD48 were set to 41984595
Phenotypes for gene: CD48 were set to Inborn error of immunity, MONDO:0003778, CD48-related
Autoinflammatory Disorders v3.9 Zornitza Stark Copied gene CD48 from panel Mendeliome
Autoinflammatory Disorders v3.9 CD48 Zornitza Stark gene: CD48 was added
gene: CD48 was added to Autoinflammatory Disorders. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CD48 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CD48 were set to 41984595
Phenotypes for gene: CD48 were set to Inborn error of immunity, MONDO:0003778, CD48-related
Mendeliome v2.98 CD48 Zornitza Stark Marked gene: CD48 as ready
Mendeliome v2.98 CD48 Zornitza Stark Gene: cd48 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.98 CD48 Zornitza Stark Classified gene: CD48 as Amber List (moderate evidence)
Mendeliome v2.98 CD48 Zornitza Stark Gene: cd48 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.97 CD48 Zornitza Stark gene: CD48 was added
gene: CD48 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CD48 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CD48 were set to 41984595
Phenotypes for gene: CD48 were set to Inborn error of immunity, MONDO:0003778, CD48-related
Review for gene: CD48 was set to AMBER
Added comment: PMID 41984595 reports 2 individuals from 2 families with de novo heterozygous missense CD48 S220 variants presenting with early‑onset recurrent inflammatory episodes, T‑cell lymphopenia and HLH‑like criteria. Variant‑specific cellular assays show reduced surface CD48 and ER stress, and CD48‑/‑ mice recapitulate the phenotype, supporting a loss‑of‑function mechanism.
Sources: Literature
Fetal anomalies v2.3 ADGRL2 Zornitza Stark Marked gene: ADGRL2 as ready
Fetal anomalies v2.3 ADGRL2 Zornitza Stark Gene: adgrl2 has been classified as Red List (Low Evidence).
Microcephaly v2.1 ADGRL2 Zornitza Stark Marked gene: ADGRL2 as ready
Microcephaly v2.1 ADGRL2 Zornitza Stark Gene: adgrl2 has been classified as Red List (Low Evidence).
Microcephaly v2.1 Zornitza Stark Copied gene ADGRL2 from panel Mendeliome
Microcephaly v2.1 ADGRL2 Zornitza Stark gene: ADGRL2 was added
gene: ADGRL2 was added to Microcephaly. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ADGRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADGRL2 were set to 30340542
Phenotypes for gene: ADGRL2 were set to Neurodevelopmental disorder, MONDO:0700092, ADGRL2-related
Fetal anomalies v2.3 Zornitza Stark Copied gene ADGRL2 from panel Mendeliome
Fetal anomalies v2.3 ADGRL2 Zornitza Stark gene: ADGRL2 was added
gene: ADGRL2 was added to Fetal anomalies. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ADGRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADGRL2 were set to 30340542
Phenotypes for gene: ADGRL2 were set to Neurodevelopmental disorder, MONDO:0700092, ADGRL2-related
Mendeliome v2.96 ADGRL2 Zornitza Stark Marked gene: ADGRL2 as ready
Mendeliome v2.96 ADGRL2 Zornitza Stark Gene: adgrl2 has been classified as Red List (Low Evidence).
Mendeliome v2.96 ADGRL2 Zornitza Stark gene: ADGRL2 was added
gene: ADGRL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADGRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADGRL2 were set to 30340542
Phenotypes for gene: ADGRL2 were set to Neurodevelopmental disorder, MONDO:0700092, ADGRL2-related
Review for gene: ADGRL2 was set to RED
Added comment: Single individual reported with de novo missense variant, in a fetus with extreme microcephaly with almost no sulcation and rhombencephalosynapsis. Embryonic lethality was observed in constitutive Adgrl2-/- mice. In Adgrl2+/- mice, MRI studies revealed microcephaly and vermis hypoplasia.
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.13 SF3B3 Zornitza Stark Marked gene: SF3B3 as ready
Intellectual disability syndromic and non-syndromic v2.13 SF3B3 Zornitza Stark Gene: sf3b3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.13 Zornitza Stark Copied gene SF3B3 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.13 SF3B3 Zornitza Stark gene: SF3B3 was added
gene: SF3B3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SF3B3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF3B3 were set to 41709284
Phenotypes for gene: SF3B3 were set to Neurodevelopmental disorder, MONDO:0700092, SF3B3-related
Mendeliome v2.95 SF3B3 Zornitza Stark Marked gene: SF3B3 as ready
Mendeliome v2.95 SF3B3 Zornitza Stark Gene: sf3b3 has been classified as Green List (High Evidence).
Mendeliome v2.95 SF3B3 Zornitza Stark Classified gene: SF3B3 as Green List (high evidence)
Mendeliome v2.95 SF3B3 Zornitza Stark Gene: sf3b3 has been classified as Green List (High Evidence).
Mendeliome v2.94 SF3B3 Zornitza Stark gene: SF3B3 was added
gene: SF3B3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SF3B3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF3B3 were set to 41709284
Phenotypes for gene: SF3B3 were set to Neurodevelopmental disorder, MONDO:0700092, SF3B3-related
Review for gene: SF3B3 was set to GREEN
Added comment: PMID 41709284 reports 24 individuals from 24 families with de novo heterozygous loss-of-function (haploinsufficiency) SF3B3 variants presenting with a syndromic neurodevelopmental disorder characterised by autism, developmental delay, intellectual disability, language and motor delay, multiple congenital anomalies and distinctive facial features. Functional assays in patient-derived fibroblasts demonstrate reduced SF3B3 protein levels, proteasome-mediated degradation and transcriptomic/splicing dysregulation.
Sources: Literature
Differences of Sex Development v2.2 LHX1 Zornitza Stark Marked gene: LHX1 as ready
Differences of Sex Development v2.2 LHX1 Zornitza Stark Gene: lhx1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v1.1 LHX1 Zornitza Stark Marked gene: LHX1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v1.1 LHX1 Zornitza Stark Gene: lhx1 has been classified as Green List (High Evidence).
Differences of Sex Development v2.2 Zornitza Stark Copied gene LHX1 from panel Mendeliome
Differences of Sex Development v2.2 LHX1 Zornitza Stark gene: LHX1 was added
gene: LHX1 was added to Differences of Sex Development. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX1 were set to 41632294; 29527097; 28061432
Phenotypes for gene: LHX1 were set to Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, LHX1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v1.1 Zornitza Stark Copied gene LHX1 from panel Mendeliome
Congenital anomalies of the kidney and urinary tract (CAKUT) v1.1 LHX1 Zornitza Stark gene: LHX1 was added
gene: LHX1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature
Mode of inheritance for gene: LHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX1 were set to 41632294; 29527097; 28061432
Phenotypes for gene: LHX1 were set to Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, LHX1-related
Mendeliome v2.93 LHX1 Zornitza Stark Marked gene: LHX1 as ready
Mendeliome v2.93 LHX1 Zornitza Stark Gene: lhx1 has been classified as Green List (High Evidence).
Mendeliome v2.93 LHX1 Zornitza Stark Classified gene: LHX1 as Green List (high evidence)
Mendeliome v2.93 LHX1 Zornitza Stark Gene: lhx1 has been classified as Green List (High Evidence).
Mendeliome v2.92 LHX1 Zornitza Stark gene: LHX1 was added
gene: LHX1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX1 were set to 41632294; 29527097; 28061432
Phenotypes for gene: LHX1 were set to Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, LHX1-related
Review for gene: LHX1 was set to GREEN
Added comment: PMID 41632294, PMID 29527097 and PMID 28061432 collectively report six MRKH families with heterozygous LHX1 variants—three low‑level mosaic deletions (c.676_841del), one frameshift truncation, and a missense variant (c.G1108A (p.A370T)) that reduces transcriptional activity. The deletions are de novo mosaic, the frameshift is a predicted null allele, and the missense variant shows functional impairment in a luciferase assay. A mouse Lhx1 knockout reproduces the phenotype.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v1.1 SERPINA12 Zornitza Stark Marked gene: SERPINA12 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v1.1 SERPINA12 Zornitza Stark Gene: serpina12 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v1.1 Zornitza Stark Copied gene SERPINA12 from panel Mendeliome
Palmoplantar Keratoderma and Erythrokeratoderma v1.1 SERPINA12 Zornitza Stark gene: SERPINA12 was added
gene: SERPINA12 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SERPINA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA12 were set to 40260945; 40138372; 39663865; 39630431; 39034590; 38529670; 38268400; 37684051; 35199331; 32247861
Phenotypes for gene: SERPINA12 were set to Hereditary palmoplantar keratoderma, Gamborg-Nielsen type, MONDO:0009489
Mendeliome v2.91 SERPINA12 Zornitza Stark Marked gene: SERPINA12 as ready
Mendeliome v2.91 SERPINA12 Zornitza Stark Gene: serpina12 has been classified as Green List (High Evidence).
Mendeliome v2.91 SERPINA12 Zornitza Stark Classified gene: SERPINA12 as Green List (high evidence)
Mendeliome v2.91 SERPINA12 Zornitza Stark Gene: serpina12 has been classified as Green List (High Evidence).
Mendeliome v2.90 SERPINA12 Zornitza Stark gene: SERPINA12 was added
gene: SERPINA12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SERPINA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA12 were set to 40260945; 40138372; 39663865; 39630431; 39034590; 38529670; 38268400; 37684051; 35199331; 32247861
Phenotypes for gene: SERPINA12 were set to Hereditary palmoplantar keratoderma, Gamborg-Nielsen type, MONDO:0009489
Review for gene: SERPINA12 was set to GREEN
Added comment: PMID 39630431 reports a single adult‑onset heterozygous frameshift SERPINA12 variant causing non‑punctate palmoplantar keratoderma.

Multiple studies (PMID 32247861, PMID 39663865, PMID 35199331, PMID 37684051, PMID 38268400, PMID 38529670, PMID 39034590, PMID 40260945) describe biallelic loss‑of‑function SERPINA12 variants producing hereditary palmoplantar keratoderma, Gamborg‑Nielsen type, with childhood‑onset diffuse hyperkeratosis, hyperhidrosis and related skin features. Functional work includes cell‑line knock‑down, organotypic skin equivalents and minigene splicing assays, but lacks rescue or animal‑model confirmation.
Sources: Literature
Hereditary Neuropathy v2.2 ERCC4 Sangavi Sivagnanasundram gene: ERCC4 was added
gene: ERCC4 was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 38040034; 35699229
Phenotypes for gene: ERCC4 were set to ERCC4-related neuropathy MONDO:0100545
Review for gene: ERCC4 was set to GREEN
Added comment: PMID 35699229 reports 8 individuals with a complex neurological disorder (progressive cerebellar syndrome, ataxia, dementia, chorea, spasticity) and biallelic variants in ERCC4.
7 of the reported affected individuals presented with peripheral neuropathy.
Sources: Literature
Hereditary Neuropathy v2.1 AP5Z1 Sangavi Sivagnanasundram gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to 27606357; 26085577
Phenotypes for gene: AP5Z1 were set to AP5Z1-related neuropathy; hereditary spastic paraplegia 48, MONDO:0013342
Review for gene: AP5Z1 was set to GREEN
Added comment: Five affected individuals presented with neuropathy with biallelic loss-of-function AP5Z1 variants causing a complex phenotype comprising hereditary spastic paraplegia 48, parkinsonism and cognitive impairment.
Sources: Literature
Mendeliome v2.89 IQGAP1 Sangavi Sivagnanasundram gene: IQGAP1 was added
gene: IQGAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IQGAP1 were set to 37635636; 34328347; 30232381
Phenotypes for gene: IQGAP1 were set to Tetralogy of Fallot MONDO:0008542; Annular Pancreas MONDO:0008183
Review for gene: IQGAP1 was set to AMBER
Added comment: There are no pathogenic variants reported in ClinVar and no Morbid gene entry in OMIM as of this review. Given the uncertainty of the GDA, the overall classification for this gene is AMBER. Further reports and functional evidence is required.

TOF assertion - AMBER
PMID: 30232381and 34328347 report five unrelated families with probands presenting with tetralogy of fallot along with heterozygous loss-of-function variants.
LoF is not yet an established mechanism of disease for IQGAP1 however some of the reported variants are rare/absent in gnomAD v4.1.

Annular pancreas - RED
PMID: 37635636 presents 7 unrelated families with heterozygous missense variants presenting with annual pancreas (congenital pancreatic malformation).
The missense variants reported in affected individuals have a higher FAF in gnomAD for an AD GDA. Further reports and evidence is required to upgrade this assertion.
Sources: Literature
Retinitis pigmentosa v1.1 Sarah Milton Copied Region YPEL2 regulatory region from panel Mendeliome
Retinitis pigmentosa v1.1 YPEL2 regulatory region Sarah Milton Region: YPEL2 regulatory region was added
Region: YPEL2 regulatory region was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
regulatory region tags were added to Region: YPEL2 regulatory region.
Mode of inheritance for Region: YPEL2 regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: YPEL2 regulatory region were set to PMID: 33022222
Phenotypes for Region: YPEL2 regulatory region were set to Retinitis pigmentosa 17, MIM#600852
Mendeliome v2.88 YPEL2 regulatory region Sarah Milton Gene: GDPD1:Ensemblv115 was changed to YPEL2:Ensemblv115.
Mendeliome v2.87 YPEL2 regulatory region Sarah Milton Gene: YPEL2:Ensemblv115 was changed to GDPD1:Ensemblv115.
Mendeliome v2.86 YPEL2 regulatory region Sarah Milton Classified Region: YPEL2 regulatory region as Green List (high evidence)
Mendeliome v2.86 YPEL2 regulatory region Sarah Milton Region: ypel2 regulatory region has been classified as Green List (High Evidence).
Mendeliome v2.85 YPEL2 regulatory region Sarah Milton Classified Region: YPEL2 regulatory region as Green List (high evidence)
Mendeliome v2.85 YPEL2 regulatory region Sarah Milton Region: ypel2 regulatory region has been classified as Green List (High Evidence).
Mendeliome v2.84 YPEL2 regulatory region Sarah Milton Region: YPEL2 regulatory region was added
Region: YPEL2 regulatory region was added to Mendeliome. Sources: Literature
regulatory region tags were added to Region: YPEL2 regulatory region.
Mode of inheritance for Region: YPEL2 regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: YPEL2 regulatory region were set to PMID: 33022222
Phenotypes for Region: YPEL2 regulatory region were set to Retinitis pigmentosa 17, MIM#600852
Review for Region: YPEL2 regulatory region was set to GREEN
Added comment: GDPD1 encodes glycerophosphodiester phosphodiesterase 4 and is not normally expressed in the retina.

YPEL2 encodes Yippe-like 2 and has ubiquitous expression highest in brain. It is also known to be expressed in rod photoreceptor cells. The function is not yet well established.

PMID: 33022222 reports over 300 affected individuals from 22 families in which structural variants were identified in 17q22 involving YPEL2 with affected individuals demonstrating a retinitis pigmentosa phenotype.
Variants included duplications, triplications and inverted duplications.
Disease was reported to be fully penetrant however with some manifestations occurring in later life.

The molecular mechanism of disease was investigated using Hi-C on transdifferentiated retinal organoid cells and quantitative PCR.
Functional studies showed structural variants resulted in altered TAD structure causing inappropriate retinal expression of GDPD1.
This was due to altered proximity of GDPD1 to retinal specific enhancers normally surrounding YPEL2.

Note: coordinates used for this entry are that of the minimal sized contiguous duplication reported in an affected individual.
Sources: Literature
Early-onset Parkinson disease v3.21 Sangavi Sivagnanasundram Copied gene BRD9 from panel Mendeliome
Early-onset Parkinson disease v3.21 BRD9 Sangavi Sivagnanasundram gene: BRD9 was added
gene: BRD9 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: BRD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRD9 were set to 40959972
Phenotypes for gene: BRD9 were set to Early onset Parkinson Disease MONDO:0017279
Mendeliome v2.83 BRD9 Sangavi Sivagnanasundram gene: BRD9 was added
gene: BRD9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BRD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRD9 were set to 40959972
Phenotypes for gene: BRD9 were set to Early onset Parkinson Disease MONDO:0017279
Review for gene: BRD9 was set to RED
Added comment: No Morbid entry in OMIM
No pathogenic variants have been reported in ClinVar as of this review.

PMID: 40959972 - reports on a few families with variants in BRD9. Some variants have a high FAF for an AR GDA.
The phenotypic information was only provided for one family that has a diagnosis of early onset parkinson disease.

More information and evidence are required to upgrade the gene-disease association.
Sources: Literature
Motor Neurone Disease v2.6 COQ7 Bryony Thompson Marked gene: COQ7 as ready
Motor Neurone Disease v2.6 COQ7 Bryony Thompson Gene: coq7 has been classified as Green List (High Evidence).
Motor Neurone Disease v2.6 COQ7 Bryony Thompson Classified gene: COQ7 as Green List (high evidence)
Motor Neurone Disease v2.6 COQ7 Bryony Thompson Gene: coq7 has been classified as Green List (High Evidence).
Motor Neurone Disease v2.5 COQ7 Bryony Thompson gene: COQ7 was added
gene: COQ7 was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 37170631; 36759155; 36758993
Phenotypes for gene: COQ7 were set to primary coenzyme Q10 deficiency 8, MONDO:0014754
Review for gene: COQ7 was set to GREEN
Added comment: Three independent studies report a total of 12 families with biallelic COQ7 loss‑of‑function variants causing distal hereditary motor neuropathy (dHMN), an autosomal recessive motor neuron disorder presenting from early childhood to adolescence with progressive distal weakness, pes cavus and, in many cases, upper‑motor‑neuron signs. PMID 36758993 described two Chinese families with compound heterozygous splice‑site and missense variants; PMID 36759155 added a third family homozygous for a start‑codon variant and confirmed the Chinese families; PMID 37170631 identified nine additional families, several of which carry the recurrent c.3G>T allele. Functional studies show COQ7 deficiency in patient fibroblasts and iPSC‑derived motor neurons and rescue of cellular stress with coenzyme‑Q10 supplementation, supporting pathogenicity. The phenotype aligns with the Motor Neurone Disease panel’s scope of motor‑neuron degeneration, making COQ7 a suitable diagnostic‑grade gene for inclusion.
Sources: Literature
Aortopathy_Connective Tissue Disorders v2.0 GORAB Zornitza Stark reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM #231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.82 HCK Zornitza Stark Publications for gene: HCK were set to 34536415
Mendeliome v2.81 HCK Zornitza Stark Classified gene: HCK as Green List (high evidence)
Mendeliome v2.81 HCK Zornitza Stark Gene: hck has been classified as Green List (High Evidence).
Mendeliome v2.80 HCK Zornitza Stark edited their review of gene: HCK: Added comment: Four individuals from three families reported.; Changed rating: GREEN; Changed publications: 34536415, 41920357
Autoinflammatory Disorders v3.8 Zornitza Stark Added reviews for gene HCK from panel Vasculitis
Autoinflammatory Disorders v3.7 HCK Zornitza Stark Marked gene: HCK as ready
Autoinflammatory Disorders v3.7 HCK Zornitza Stark Gene: hck has been classified as Green List (High Evidence).
Incidentalome v1.4 Bryony Thompson Copied gene CLCC1 from panel Motor Neurone Disease
Incidentalome v1.4 CLCC1 Bryony Thompson gene: CLCC1 was added
gene: CLCC1 was added to Incidentalome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CLCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCC1 were set to 37916886; 37142673
Phenotypes for gene: CLCC1 were set to amyotrophic lateral sclerosis MONDO:0004976
Motor Neurone Disease v2.4 CLCC1 Bryony Thompson Classified gene: CLCC1 as Amber List (moderate evidence)
Motor Neurone Disease v2.4 CLCC1 Bryony Thompson Gene: clcc1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v2.3 CLCC1 Bryony Thompson gene: CLCC1 was added
gene: CLCC1 was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: CLCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCC1 were set to 37916886; 37142673
Phenotypes for gene: CLCC1 were set to amyotrophic lateral sclerosis MONDO:0004976
Review for gene: CLCC1 was set to AMBER
Added comment: PMID 37916886 reports four unrelated ALS patients and PMID 37142673 reports nine ALS patients, all with heterozygous CLCC1 variants. Across both studies, 13 probands are described carry qualifying loss‑of‑function variants (two truncating alleles and three missense alleles with functional validation, including a recurrent p.Ser263Arg). Functional work in PMID 37142673 demonstrates channel loss‑of‑function in planar‑bilayer assays and ALS‑like motor‑neuron pathology in knock‑in mice, supporting a loss‑of‑function disease mechanism. The PMID 37916886 cohort did not achieve statistical significance for a CLCC1‑ALS association, reducing confidence in the gene‑disease link. All reported families are from Chinese cohorts; no replication in additional ethnic populations has yet been demonstrated. LoF variants present as VUS in ClinVar with no reports of an association with ALS.
Sources: Literature
Autoinflammatory Disorders v3.7 HCK Zornitza Stark Publications for gene: HCK were set to PMID: 34536415
Autoinflammatory Disorders v3.6 HCK Zornitza Stark Classified gene: HCK as Green List (high evidence)
Autoinflammatory Disorders v3.6 HCK Zornitza Stark Gene: hck has been classified as Green List (High Evidence).
Mendeliome v2.80 FGR Zornitza Stark Marked gene: FGR as ready
Mendeliome v2.80 FGR Zornitza Stark Gene: fgr has been classified as Amber List (Moderate Evidence).
Mendeliome v2.80 Zornitza Stark Copied gene FGR from panel Autoinflammatory Disorders
Mendeliome v2.80 FGR Zornitza Stark gene: FGR was added
gene: FGR was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: FGR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGR were set to PMID: 31138708; PMID: 41920357
Phenotypes for gene: FGR were set to Inborn error of immunity, MONDO:0003778, FGR-related
Mode of pathogenicity for gene: FGR was set to Other
Autoinflammatory Disorders v3.5 FGR Zornitza Stark Marked gene: FGR as ready
Autoinflammatory Disorders v3.5 FGR Zornitza Stark Gene: fgr has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v3.5 FGR Zornitza Stark Phenotypes for gene: FGR were changed from autoinflammatory bone disease; infantile vasculitis to Inborn error of immunity, MONDO:0003778, FGR-related
Autoinflammatory Disorders v3.4 FGR Zornitza Stark Classified gene: FGR as Amber List (moderate evidence)
Autoinflammatory Disorders v3.4 FGR Zornitza Stark Gene: fgr has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v3.3 FGR Zornitza Stark reviewed gene: FGR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, FGR-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.79 ACTRT1 Zornitza Stark Marked gene: ACTRT1 as ready
Mendeliome v2.79 ACTRT1 Zornitza Stark Gene: actrt1 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v2.7 ACTRT1 Zornitza Stark Marked gene: ACTRT1 as ready
Infertility and Recurrent Pregnancy Loss v2.7 ACTRT1 Zornitza Stark Gene: actrt1 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v2.7 ACTRT1 Zornitza Stark Phenotypes for gene: ACTRT1 were changed from Infertility disorder, MONDO:0005047, ACTRT1-related; Bazex-Dupre-Christol syndrome MONDO:0010535, ACTRT1-related to Infertility disorder, MONDO:0005047, ACTRT1-related
Mendeliome v2.79 HDAC2 Zornitza Stark Marked gene: HDAC2 as ready
Mendeliome v2.79 HDAC2 Zornitza Stark Gene: hdac2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.12 HDAC2 Zornitza Stark Marked gene: HDAC2 as ready
Intellectual disability syndromic and non-syndromic v2.12 HDAC2 Zornitza Stark Gene: hdac2 has been classified as Green List (High Evidence).
Genetic Epilepsy v2.9 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Genetic Epilepsy v2.9 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Red cell disorders v2.4 BPNT1 Zornitza Stark Classified gene: BPNT1 as Green List (high evidence)
Red cell disorders v2.4 BPNT1 Zornitza Stark Gene: bpnt1 has been classified as Green List (High Evidence).
Red cell disorders v2.3 BPNT1 Zornitza Stark All sources for gene: BPNT1 were removed
Red cell disorders v2.2 BPNT1 Zornitza Stark Marked gene: BPNT1 as ready
Red cell disorders v2.2 BPNT1 Zornitza Stark Gene: bpnt1 has been classified as Green List (High Evidence).
Red cell disorders v2.2 BPNT1 Zornitza Stark Phenotypes for gene: BPNT1 were changed from Megaloblastic anemia MONDO:0001700, BPNT1-related to Megaloblastic anaemia MONDO:0001700, BPNT1-related
Mendeliome v2.79 BPNT1 Zornitza Stark Marked gene: BPNT1 as ready
Mendeliome v2.79 BPNT1 Zornitza Stark Gene: bpnt1 has been classified as Green List (High Evidence).
Mendeliome v2.79 BPNT1 Zornitza Stark Phenotypes for gene: BPNT1 were changed from Megaloblastic anemia MONDO:0001700, BPNT1-related to Megaloblastic anaemia MONDO:0001700, BPNT1-related
Bone Marrow Failure v2.8 Zornitza Stark removed gene:BPNT1 from the panel
Red cell disorders v2.1 Zornitza Stark Copied gene BPNT1 from panel Bone Marrow Failure
Red cell disorders v2.1 BPNT1 Zornitza Stark gene: BPNT1 was added
gene: BPNT1 was added to Red cell disorders. Sources: Literature,Expert Review Green,Expert Review Green,Literature
Mode of inheritance for gene: BPNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BPNT1 were set to 42166360
Phenotypes for gene: BPNT1 were set to Megaloblastic anemia MONDO:0001700, BPNT1-related
Congenital hypothyroidism v1.5 CTBP2 Zornitza Stark Marked gene: CTBP2 as ready
Congenital hypothyroidism v1.5 CTBP2 Zornitza Stark Gene: ctbp2 has been classified as Red List (Low Evidence).
Mendeliome v2.78 CTBP2 Zornitza Stark Marked gene: CTBP2 as ready
Mendeliome v2.78 CTBP2 Zornitza Stark Gene: ctbp2 has been classified as Red List (Low Evidence).
Mendeliome v2.78 SLC16A13 Zornitza Stark Marked gene: SLC16A13 as ready
Mendeliome v2.78 SLC16A13 Zornitza Stark Gene: slc16a13 has been classified as Red List (Low Evidence).
Mitochondrial disease v2.1 SLC16A13 Zornitza Stark Marked gene: SLC16A13 as ready
Mitochondrial disease v2.1 SLC16A13 Zornitza Stark Gene: slc16a13 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v2.12 INTS6 Zornitza Stark Phenotypes for gene: INTS6 were changed from Neurodevelopmental disorder, MONDO:0700092, INTS6-related to Intellectual developmental disorder, autosomal dominant 78, MIM# 621627
Intellectual disability syndromic and non-syndromic v2.11 INTS6 Zornitza Stark reviewed gene: INTS6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 78, MIM# 621627; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.78 INTS6 Zornitza Stark Phenotypes for gene: INTS6 were changed from Neurodevelopmental disorder, MONDO:0700092, INTS6-related to Intellectual developmental disorder, autosomal dominant 78, MIM# 621627
Mendeliome v2.77 INTS6 Zornitza Stark Publications for gene: INTS6 were set to
Mendeliome v2.76 INTS6 Zornitza Stark reviewed gene: INTS6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 78, MIM# 621627; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v1.3 INTS6 Zornitza Stark Phenotypes for gene: INTS6 were changed from Neurodevelopmental disorder, MONDO:0700092, INTS6-related to Intellectual developmental disorder, autosomal dominant 78, MIM# 621627
Autism v1.2 INTS6 Zornitza Stark edited their review of gene: INTS6: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 78, MIM# 621627
Motor Neurone Disease v2.2 ATP13A2 Bryony Thompson Marked gene: ATP13A2 as ready
Motor Neurone Disease v2.2 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Motor Neurone Disease v2.2 ATP13A2 Bryony Thompson Classified gene: ATP13A2 as Green List (high evidence)
Motor Neurone Disease v2.2 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Motor Neurone Disease v2.1 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 40028680; 30992063
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MONDO:0011706
Review for gene: ATP13A2 was set to GREEN
Added comment: PMID 40028680 reports four individuals from two unrelated families with biallelic loss‑of‑function ATP13A2 variants (p.Arg487* homozygous; compound heterozygous p.Arg819* and p.Leu823Pro) presenting with an ALS‑like motor neuron disease characterised by progressive weakness, tongue fasciculations, spasticity, cognitive decline and juvenile‑onset parkinsonism. PMID 30992063 adds two unrelated families, one harbouring a homozygous nonsense p.Glu613Ter variant that segregates with disease and is absent from population databases, with functional zebrafish knock‑down and rescue confirming loss‑of‑function; the second family carries a homozygous missense p.Ile411Met variant present in gnomAD, which does not meet the qualifying variant criteria. Across the combined evidence, three independent families with qualifying biallelic loss‑of‑function variants fulfil the ≥3‑family threshold for Criterion A. The autosomal recessive inheritance and the recognisable ALS‑like phenotype are clinically actionable, supporting inclusion of ATP13A2 on the Motor Neurone Disease panel.
Sources: Literature
Early-onset Parkinson disease v3.20 DDC Bryony Thompson Publications for gene: DDC were set to PMID: 33983693
Early-onset Parkinson disease v3.19 DDC Bryony Thompson Classified gene: DDC as Green List (high evidence)
Early-onset Parkinson disease v3.19 DDC Bryony Thompson Gene: ddc has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.18 DDC Bryony Thompson reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36928758, 36054588, 35829818, 35593933, 30260058; Phenotypes: aromatic L-amino acid decarboxylase deficiency, MONDO:0012084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v3.18 TARDBP Bryony Thompson Marked gene: TARDBP as ready
Early-onset Parkinson disease v3.18 TARDBP Bryony Thompson Gene: tardbp has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.18 TARDBP Bryony Thompson Classified gene: TARDBP as Green List (high evidence)
Early-onset Parkinson disease v3.18 TARDBP Bryony Thompson Gene: tardbp has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.17 TARDBP Bryony Thompson gene: TARDBP was added
gene: TARDBP was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TARDBP were set to 36247987
Phenotypes for gene: TARDBP were set to frontotemporal dementia with motor neuron disease MONDO:0017161
Review for gene: TARDBP was set to GREEN
Added comment: TARDBP variants are linked to adult‑onset Parkinson disease and related atypical parkinsonian syndromes, supporting its inclusion on the Early‑onset Parkinson disease panel which focuses on abnormal extrapyramidal motor function.
Parkinson disease (PD), adult onset (47‑67 years): Four families (four patients) with heterozygous missense TARDBP variants (p.G294A, p.G295S, p.S393L, p.N267S) were reported; variants are rare (gnomAD ≤8.2e‑5) and show patient‑cell functional deficits.
Corticobasal syndrome (CBS) with parkinsonism, adult onset: One family (one patient) harbouring heterozygous p.N267S was described; functional deficits observed in patient cells.
Progressive supranuclear palsy (PSP) with parkinsonism, adult onset: One family (one patient) with the same p.N267S variant was reported; functional assays are similar to CBS. The same evidence pattern applies as for CBS.
Sources: Literature
Early-onset Parkinson disease v3.16 SLC16A2 Bryony Thompson Marked gene: SLC16A2 as ready
Early-onset Parkinson disease v3.16 SLC16A2 Bryony Thompson Gene: slc16a2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.16 SLC16A2 Bryony Thompson Classified gene: SLC16A2 as Green List (high evidence)
Early-onset Parkinson disease v3.16 SLC16A2 Bryony Thompson Gene: slc16a2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.15 SLC16A2 Bryony Thompson gene: SLC16A2 was added
gene: SLC16A2 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: SLC16A2 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: SLC16A2 were set to 41144879; 40088079
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, MONDO:0010354
Review for gene: SLC16A2 was set to GREEN
Added comment: PMID 40088079 reports 11 male patients from 11 families with hemizygous SLC16A2 loss-of-function variants; five independent families carry qualifying frameshift or splice null alleles causing Allan‑Herndon‑Dudley syndrome with childhood parkinsonism (hypokinesia, rigidity, dystonia, autonomic dysfunction). CSF homovanillic acid is markedly reduced and six treated families improve with levodopa/carbidopa. PMID 41144879 describes ten additional male patients with genetically confirmed SLC16A2 deficiency and infantile parkinsonism but provides no variant details, preventing independent family counting. The childhood parkinsonism phenotype aligns with the Early‑onset Parkinson disease panel's focus on abnormal extrapyramidal motor function.
Sources: Literature
Dystonia and Chorea v1.3 MICU1 Bryony Thompson Marked gene: MICU1 as ready
Dystonia and Chorea v1.3 MICU1 Bryony Thompson Gene: micu1 has been classified as Green List (High Evidence).
Dystonia and Chorea v1.3 MICU1 Bryony Thompson Publications for gene: MICU1 were set to 24336167; 29721912; 32395406
Dystonia and Chorea v1.2 Bryony Thompson Copied gene MICU1 from panel Mendeliome
Dystonia and Chorea v1.2 MICU1 Bryony Thompson gene: MICU1 was added
gene: MICU1 was added to Dystonia and Chorea. Sources: Expert Review Green,Victorian Clinical Genetics Services
founder tags were added to gene: MICU1.
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MICU1 were set to 24336167; 29721912; 32395406
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, MIM# 615673
Incidentalome v1.3 Bryony Thompson Copied gene LRP10 from panel Early-onset Parkinson disease
Incidentalome v1.3 LRP10 Bryony Thompson gene: LRP10 was added
gene: LRP10 was added to Incidentalome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LRP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP10 were set to 36434476; 33913039; 32613234; 32597809; 30964957; 30597596; 29887161
Phenotypes for gene: LRP10 were set to Parkinson disease MONDO:0005180
Early-onset Dementia v2.1 Bryony Thompson Copied gene LRP10 from panel Early-onset Parkinson disease
Early-onset Dementia v2.1 LRP10 Bryony Thompson gene: LRP10 was added
gene: LRP10 was added to Early-onset Dementia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LRP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP10 were set to 36434476; 33913039; 32613234; 32597809; 30964957; 30597596; 29887161
Phenotypes for gene: LRP10 were set to Parkinson disease MONDO:0005180
Early-onset Parkinson disease v3.14 LRP10 Bryony Thompson Marked gene: LRP10 as ready
Early-onset Parkinson disease v3.14 LRP10 Bryony Thompson Gene: lrp10 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.14 LRP10 Bryony Thompson Classified gene: LRP10 as Green List (high evidence)
Early-onset Parkinson disease v3.14 LRP10 Bryony Thompson Gene: lrp10 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.13 LRP10 Bryony Thompson gene: LRP10 was added
gene: LRP10 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: LRP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP10 were set to 36434476; 33913039; 32613234; 32597809; 30964957; 30597596; 29887161
Phenotypes for gene: LRP10 were set to Parkinson disease MONDO:0005180
Review for gene: LRP10 was set to GREEN
Added comment: PMID 29887161 reports 12 families (30 patients) with Parkinson disease, Parkinson disease dementia and dementia with Lewy bodies with supporting segregation and variant‑specific functional loss‑of‑function. Also, some unaffected variant carriers. PMID 32613234 describes an additional independent family with a frameshift variant. Combined, 13 independent families meet the qualifying‑variant gate, supporting an autosomal‑dominant Parkinson disease spectrum that is directly relevant to the Early‑onset Parkinson disease panel (abnormal extrapyramidal motor function).
Sources: Literature
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson Marked gene: H6PD as ready
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson Gene: h6pd has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson changed review comment from: PMID 40959972 reports 4 individuals from 4 families with biallelic H6PD missense variants (2 homozygous in consanguineous families and 2 compound heterozygous cases) presenting with early‑onset Parkinson disease (age at onset <50 years). Functional validation of the specific variants is lacking, and there is no evidence of segregation in affected individuals within the same family. Further studies required to establish the gene-disease association.
Sources: Literature; to: PMID 40959972 reports 4 individuals from 4 families with biallelic H6PD missense variants (2 homozygous in consanguineous families and 2 compound heterozygous cases) presenting with early‑onset Parkinson disease (age at onset <50 years). Functional validation of the specific variants is lacking, and there is no evidence of segregation in affected individuals within the same family. Also homozygous and possible compound heterozygous variants were found in controls from the UK Biobank. Further studies required to establish the gene-disease association.
Sources: Literature
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson Classified gene: H6PD as Amber List (moderate evidence)
Early-onset Parkinson disease v3.12 H6PD Bryony Thompson Gene: h6pd has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v3.11 H6PD Bryony Thompson gene: H6PD was added
gene: H6PD was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: H6PD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: H6PD were set to 40959972
Phenotypes for gene: H6PD were set to Parkinson disease MONDO:0005180
Review for gene: H6PD was set to AMBER
Added comment: PMID 40959972 reports 4 individuals from 4 families with biallelic H6PD missense variants (2 homozygous in consanguineous families and 2 compound heterozygous cases) presenting with early‑onset Parkinson disease (age at onset <50 years). Functional validation of the specific variants is lacking, and there is no evidence of segregation in affected individuals within the same family. Further studies required to establish the gene-disease association.
Sources: Literature
Early-onset Parkinson disease v3.10 GNAO1 Bryony Thompson Marked gene: GNAO1 as ready
Early-onset Parkinson disease v3.10 GNAO1 Bryony Thompson Gene: gnao1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.10 GNAO1 Bryony Thompson Classified gene: GNAO1 as Green List (high evidence)
Early-onset Parkinson disease v3.10 GNAO1 Bryony Thompson Gene: gnao1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.9 GNAO1 Bryony Thompson gene: GNAO1 was added
gene: GNAO1 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAO1 were set to 38358016; 35722775
Phenotypes for gene: GNAO1 were set to movement disorder, MONDO:0005395
Review for gene: GNAO1 was set to GREEN
Added comment: PMID 35722775 reports 24 individuals from 20 families carrying heterozygous GNAO1 variants, of whom seven families (seven individuals) present with adolescent‑ or adult‑onset parkinsonism with dystonia. PMID 38358016 reports a single child (onset ~9 years) with early‑onset parkinsonism caused by a de novo missense variant. Combined, eight families (eight individuals) with GNAO1‑related parkinsonism (movement disorder) have been described, all monoallelic loss‑of‑function alleles, fitting the Early‑onset Parkinson disease panel’s focus on abnormal extrapyramidal motor function.
Sources: Literature
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Marked gene: FIG4 as ready
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Classified gene: FIG4 as Green List (high evidence)
Early-onset Parkinson disease v3.8 FIG4 Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.7 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 41177402; 40884084; 40118803; 40062820; 37950760; 37868919
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease type 4J, MONDO:0012640
Review for gene: FIG4 was set to GREEN
Added comment: PMID 37868919 reports 1 family with biallelic loss‑of‑function FIG4 variants presenting with early‑onset Parkinsonism and Charcot‑Marie‑Tooth features; PMID 40062820 reports 1 family with biallelic loss‑of‑function FIG4 variants and a progressive supranuclear palsy‑like syndrome; PMID 37950760 reports 2 families with CMT4J and Parkinsonism; PMID 41177402 reports 2 families with CMT4J and early‑onset Parkinsonism, bringing the total to 6 families.
Sources: Literature
Early-onset Parkinson disease v3.6 EPG5 Bryony Thompson Marked gene: EPG5 as ready
Early-onset Parkinson disease v3.6 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.6 EPG5 Bryony Thompson Classified gene: EPG5 as Green List (high evidence)
Early-onset Parkinson disease v3.6 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.5 EPG5 Bryony Thompson gene: EPG5 was added
gene: EPG5 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 41159719; 41053928; 40192014
Phenotypes for gene: EPG5 were set to neurodevelopmental disorder with parkinsonism or other movement abnormalities MONDO:0980990
Review for gene: EPG5 was set to GREEN
Added comment: PMID 40192014, PMID 41053928 and PMID 41159719 report >15 families with biallelic EPG5 variants presenting with early‑onset Parkinson disease (onset ≤50 years), often accompanied by dystonia and cognitive decline. The variants are loss‑of‑function (nonsense, frameshift, splice) or hypomorphic missense; patient‑derived cell assays and animal models demonstrate impaired autophagy and loss of substantia nigra dopaminergic neurons.
Sources: Literature
Early-onset Parkinson disease v3.4 COQ2 Bryony Thompson Marked gene: COQ2 as ready
Early-onset Parkinson disease v3.4 COQ2 Bryony Thompson Gene: coq2 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v3.4 COQ2 Bryony Thompson Classified gene: COQ2 as Amber List (moderate evidence)
Early-onset Parkinson disease v3.4 COQ2 Bryony Thompson Gene: coq2 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v3.3 COQ2 Bryony Thompson gene: COQ2 was added
gene: COQ2 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ2 were set to 39152783; 30242188; 25672683; 23758206
Phenotypes for gene: COQ2 were set to multiple system atrophy, MONDO:0007803
Review for gene: COQ2 was set to AMBER
Added comment: COQ2 encodes a key enzyme in coenzyme Q10 biosynthesis and is implicated in multiple system atrophy (MSA).
Multiple system atrophy, autosomal recessive – early‑onset Parkinsonism, cerebellar ataxia and autonomic dysfunction. Five independent families (6 reported patients) carry biallelic COQ2 variants (nonsense and missense) reported in PMID 30242188, 23758206, 25672683; iPSC‑derived neuronal rescue and yeast complementation support pathogenicity. But only 2 families were without a common missense V393A, which is present at a frequency of 2% in the East Asian population.
Multiple system atrophy, autosomal dominant – Parkinsonian type, early‑onset. Five affected individuals from a single pedigree harbour a heterozygous p.Ala301Thr missense variant (PMID 39152783); segregation across three generations is demonstrated, but no functional validation is available.
Multiple system atrophy risk allele – heterozygous COQ2 missense variants (including V393A) identified in a case‑control cohort of 758 patients (PMID 25672683). The high carrier frequency (3.3 % in controls) and lack of segregation indicate a susceptibility rather than a Mendelian disease.
Sources: Literature
Dystonia and Chorea v1.1 COA7 Bryony Thompson changed review comment from: PMID 37750949 reports three unrelated families (three patients) with biallelic COA7 missense variants and a COA7‑related recessive mitochondrial disorder characterised by cerebellar ataxia, axonal neuropathy, dystonia and parkinsonism; PMID 37264311 adds one adult patient homozygous for the same variant, expanding the phenotype to adult‑onset parkinsonism. Across four families (three independent observations) the gene–disease association meets Criterion A, as well as Criteria D and E, supporting inclusion of COA7 on the Early‑onset Parkinson disease panel.
Sources: Literature; to: PMID 37750949 reports three unrelated families (three patients) with biallelic COA7 missense variants and a COA7‑related recessive mitochondrial disorder characterised by cerebellar ataxia, axonal neuropathy, dystonia and Parkinsonism; PMID 37264311 adds one adult patient homozygous for the same variant, expanding the phenotype to adult‑onset Parkinsonism and dystonia.
Sources: Literature
Dystonia and Chorea v1.1 Bryony Thompson Copied gene COA7 from panel Early-onset Parkinson disease
Dystonia and Chorea v1.1 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Dystonia and Chorea. Sources: Expert Review Green,Literature
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 37750949; 37264311
Phenotypes for gene: COA7 were set to spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MONDO:0020770
Early-onset Parkinson disease v3.2 COA7 Bryony Thompson Classified gene: COA7 as Green List (high evidence)
Early-onset Parkinson disease v3.2 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v3.1 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 37750949; 37264311
Phenotypes for gene: COA7 were set to spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MONDO:0020770
Review for gene: COA7 was set to GREEN
Added comment: PMID 37750949 reports three unrelated families (three patients) with biallelic COA7 missense variants and a COA7‑related recessive mitochondrial disorder characterised by cerebellar ataxia, axonal neuropathy, dystonia and parkinsonism; PMID 37264311 adds one adult patient homozygous for the same variant, expanding the phenotype to adult‑onset parkinsonism. Across four families (three independent observations) the gene–disease association meets Criterion A, as well as Criteria D and E, supporting inclusion of COA7 on the Early‑onset Parkinson disease panel.
Sources: Literature
Bone Marrow Failure v2.7 Bryony Thompson Copied gene NFE2 from panel Bleeding and Platelet Disorders
Bone Marrow Failure v2.7 NFE2 Bryony Thompson gene: NFE2 was added
gene: NFE2 was added to Bone Marrow Failure. Sources: Expert Review Amber,ClinGen
Mode of inheritance for gene: NFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFE2 were set to 31951293
Phenotypes for gene: NFE2 were set to thrombocytopenia MONDO:0002049, NFE2-related
Bleeding and Platelet Disorders v2.1 NFE2 Bryony Thompson Classified gene: NFE2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v2.1 NFE2 Bryony Thompson Gene: nfe2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v2.0 NFE2 Bryony Thompson reviewed gene: NFE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 42152485, 31951293; Phenotypes: thrombocytopenia MONDO:0002049, NFE2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.76 NFE2 Bryony Thompson Classified gene: NFE2 as Amber List (moderate evidence)
Mendeliome v2.76 NFE2 Bryony Thompson Gene: nfe2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.75 NFE2 Bryony Thompson reviewed gene: NFE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 42152485, 33283958, 32554556, 31951293; Phenotypes: familial thrombocytosis MONDO:0019111, thrombocytopenia, MONDO:0002049; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v2.1 Bryony Thompson Copied gene NIBAN3 from panel Mendeliome
Gastrointestinal neuromuscular disease v2.1 NIBAN3 Bryony Thompson gene: NIBAN3 was added
gene: NIBAN3 was added to Gastrointestinal neuromuscular disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NIBAN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIBAN3 were set to 42185265
Phenotypes for gene: NIBAN3 were set to achalasia MONDO:0008698
Mendeliome v2.75 NIBAN3 Bryony Thompson Marked gene: NIBAN3 as ready
Mendeliome v2.75 NIBAN3 Bryony Thompson Gene: niban3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.75 NIBAN3 Bryony Thompson Classified gene: NIBAN3 as Amber List (moderate evidence)
Mendeliome v2.75 NIBAN3 Bryony Thompson Gene: niban3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.74 NIBAN3 Bryony Thompson gene: NIBAN3 was added
gene: NIBAN3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NIBAN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIBAN3 were set to 42185265
Phenotypes for gene: NIBAN3 were set to achalasia MONDO:0008698
Review for gene: NIBAN3 was set to AMBER
Added comment: PMID 42185265 reports 2 apparently unrelated individuals (1 identified through trio analysis and 1 from a sporadic cohort) with a homozygous loss-of-function frameshift variant p.Ala454fs in NIBAN3 presenting with achalasia (elevated lower‑esophageal sphincter pressure, impaired esophageal emptying). A CRISPR/Cas9‑engineered Fam129c mouse model recapitulates key achalasia features, and B‑cell depletion or IVIG partially rescues the phenotype, supporting a neuro‑immune mechanism.
Sources: Literature
Mendeliome v2.73 BEND2 Bryony Thompson Marked gene: BEND2 as ready
Mendeliome v2.73 BEND2 Bryony Thompson Gene: bend2 has been classified as Red List (Low Evidence).
Mendeliome v2.73 BEND2 Bryony Thompson gene: BEND2 was added
gene: BEND2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BEND2 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: BEND2 were set to 42116563
Phenotypes for gene: BEND2 were set to Infertility disorder, MONDO:0005047
Review for gene: BEND2 was set to RED
Added comment: PMID 42116563 reports one adult male from one family with a hemizygous missense BEND2 variant (c.G1069A; p.V357I) presenting with adult‑onset nonobstructive azoospermia and spermatocyte maturation arrest. The variant is absent in fertile controls, and mouse Bend2 knockout males show a similar meiotic arrest, suggesting a loss‑of‑function mechanism, although no variant‑specific functional rescue was performed.
Sources: Literature
Ichthyosis and Porokeratosis v2.2 Bryony Thompson Copied gene NKPD1 from panel Mendeliome
Ichthyosis and Porokeratosis v2.2 NKPD1 Bryony Thompson gene: NKPD1 was added
gene: NKPD1 was added to Ichthyosis and Porokeratosis. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NKPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKPD1 were set to 38642798
Phenotypes for gene: NKPD1 were set to lamellar ichthyosis MONDO:0017778
Mendeliome v2.72 NKPD1 Bryony Thompson Marked gene: NKPD1 as ready
Mendeliome v2.72 NKPD1 Bryony Thompson Gene: nkpd1 has been classified as Red List (Low Evidence).
Mendeliome v2.72 NKPD1 Bryony Thompson gene: NKPD1 was added
gene: NKPD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NKPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKPD1 were set to 38642798
Phenotypes for gene: NKPD1 were set to lamellar ichthyosis MONDO:0017778
Review for gene: NKPD1 was set to RED
Added comment: A single German family segregating a missense (c.1372G>T, p.[Val458Phe]) variant.
Sources: Literature
Ichthyosis and Porokeratosis v2.1 Bryony Thompson Copied gene EPHX3 from panel Mendeliome
Ichthyosis and Porokeratosis v2.1 EPHX3 Bryony Thompson gene: EPHX3 was added
gene: EPHX3 was added to Ichthyosis and Porokeratosis. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EPHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPHX3 were set to 42178907
Phenotypes for gene: EPHX3 were set to Ichthyosis MONDO:0019269
Mendeliome v2.71 EPHX3 Bryony Thompson Marked gene: EPHX3 as ready
Mendeliome v2.71 EPHX3 Bryony Thompson Gene: ephx3 has been classified as Green List (High Evidence).
Mendeliome v2.71 EPHX3 Bryony Thompson Classified gene: EPHX3 as Green List (high evidence)
Mendeliome v2.71 EPHX3 Bryony Thompson Gene: ephx3 has been classified as Green List (High Evidence).
Mendeliome v2.70 EPHX3 Bryony Thompson gene: EPHX3 was added
gene: EPHX3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EPHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPHX3 were set to 42178907
Phenotypes for gene: EPHX3 were set to Ichthyosis MONDO:0019269
Review for gene: EPHX3 was set to GREEN
Added comment: PMID 42178907 reports 5 individuals from 3 families with autosomal recessive loss‑of‑function variants presenting with nonsyndromic epidermal differentiation disorder (nEDD), infant‑onset generalised xerosis, erythematous scaling plaques and skin peeling. Functional assays in patient keratinocytes and HEK293T cells demonstrate markedly reduced EH3 enzymatic activity and disrupted skin‑barrier lipid composition.
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.11 NLGN2 Zornitza Stark Marked gene: NLGN2 as ready
Intellectual disability syndromic and non-syndromic v2.11 NLGN2 Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence).
Autism v1.2 NLGN2 Zornitza Stark Marked gene: NLGN2 as ready
Autism v1.2 NLGN2 Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.11 Zornitza Stark Copied gene NLGN2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.11 NLGN2 Zornitza Stark gene: NLGN2 was added
gene: NLGN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NLGN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLGN2 were set to 37506563; 32405903; 27865048; 22820233
Phenotypes for gene: NLGN2 were set to Neurodevelopmental disorder, MONDO:0700092, NLGN2-related
Autism v1.2 Zornitza Stark Copied gene NLGN2 from panel Mendeliome
Autism v1.2 NLGN2 Zornitza Stark gene: NLGN2 was added
gene: NLGN2 was added to Autism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NLGN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLGN2 were set to 37506563; 32405903; 27865048; 22820233
Phenotypes for gene: NLGN2 were set to Neurodevelopmental disorder, MONDO:0700092, NLGN2-related
Mendeliome v2.69 NLGN2 Zornitza Stark Marked gene: NLGN2 as ready
Mendeliome v2.69 NLGN2 Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.69 NLGN2 Zornitza Stark Classified gene: NLGN2 as Amber List (moderate evidence)
Mendeliome v2.69 NLGN2 Zornitza Stark Gene: nlgn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.68 NLGN2 Zornitza Stark gene: NLGN2 was added
gene: NLGN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NLGN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLGN2 were set to 37506563; 32405903; 27865048; 22820233
Phenotypes for gene: NLGN2 were set to Neurodevelopmental disorder, MONDO:0700092, NLGN2-related
Review for gene: NLGN2 was set to AMBER
Added comment: PMID 27865048, PMID 32405903 and PMID 37506563 report three individuals from three unrelated families with de novo heterozygous variants in NLGN2 (two missense, one LoF) presenting with a neurodevelopmental disorder characterised by autism spectrum disorder, intellectual disability, anxiety, hyperphagia, obesity, catatonia and epilepsy (febrile and atypical absence seizures).

Supportive animal model in PMID 22820233: Nlgn2(-/-) mice displayed normal social behaviors, concomitant with reduced exploratory activity, impaired rotarod performance, and delays on several developmental milestones. No spontaneous stereotypies or repetitive behaviors were detected. Acoustic, tactile, and olfactory sensory information processing as well as sensorimotor gating were not affected. Overall, mild impairments.
Sources: Literature
Heterotaxy v2.1 FGFR4 Zornitza Stark Marked gene: FGFR4 as ready
Heterotaxy v2.1 FGFR4 Zornitza Stark Gene: fgfr4 has been classified as Red List (Low Evidence).
Heterotaxy v2.1 Zornitza Stark Copied gene FGFR4 from panel Mendeliome
Heterotaxy v2.1 FGFR4 Zornitza Stark gene: FGFR4 was added
gene: FGFR4 was added to Heterotaxy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: FGFR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR4 were set to 30564136
Phenotypes for gene: FGFR4 were set to Visceral heterotaxy, MONDO:0018677, FGFR4-related
Mendeliome v2.67 FGFR4 Zornitza Stark Marked gene: FGFR4 as ready
Mendeliome v2.67 FGFR4 Zornitza Stark Gene: fgfr4 has been classified as Red List (Low Evidence).
Mendeliome v2.67 FGFR4 Zornitza Stark gene: FGFR4 was added
gene: FGFR4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGFR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR4 were set to 30564136
Phenotypes for gene: FGFR4 were set to Visceral heterotaxy, MONDO:0018677, FGFR4-related
Review for gene: FGFR4 was set to RED
Added comment: PMID 30564136 reports three individuals from three families with heterozygous FGFR4 variants (de novo missense p.Asp297Asn, inherited stopgain p.Gly705*, and an inherited splice variant) presenting with heterotaxy and congenital heart disease (including hypoplastic left heart syndrome, L‑transposition of the great arteries, tricuspid atresia, hypoplastic pulmonary artery, left superior vena cava). Xenopus fgfr4 knockdown recapitulates heterotaxy‑like phenotypes, supporting a loss‑of‑function mechanism. However, two of the variants are inherited, hence Red rating.
Sources: Literature
Mitochondrial disease v2.1 Lucy Spencer Copied gene SLC16A13 from panel Mendeliome
Mitochondrial disease v2.1 SLC16A13 Lucy Spencer gene: SLC16A13 was added
gene: SLC16A13 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SLC16A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC16A13 were set to 42173862
Phenotypes for gene: SLC16A13 were set to Lactic acidosis MONDO:0006040, SLC16A13-related
Mendeliome v2.66 SLC16A13 Lucy Spencer gene: SLC16A13 was added
gene: SLC16A13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC16A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC16A13 were set to 42173862
Phenotypes for gene: SLC16A13 were set to Lactic acidosis MONDO:0006040, SLC16A13-related
Review for gene: SLC16A13 was set to RED
Added comment: PMID: 42173862 reports a 10yo with a homozygous frameshift variant in SLC16A13 who had growth delay, partial growth hormone deficiency and profound exercise induced lactic acidemia. Other metabolic abnormalities were also detected post exercise. A knockout mouse model recapitulated the exercise induced lactic acidemia, however the mice had normal growth and development.
Sources: Literature
Congenital hypothyroidism v1.5 Lucy Spencer Copied gene CTBP2 from panel Mendeliome
Congenital hypothyroidism v1.5 CTBP2 Lucy Spencer gene: CTBP2 was added
gene: CTBP2 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: CTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTBP2 were set to 42192612
Phenotypes for gene: CTBP2 were set to Congenital hypothyroidism MONDO:0018612, CTBP2-related
Mendeliome v2.65 CTBP2 Lucy Spencer gene: CTBP2 was added
gene: CTBP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTBP2 were set to 42192612
Phenotypes for gene: CTBP2 were set to Congenital hypothyroidism MONDO:0018612, CTBP2-related
Review for gene: CTBP2 was set to RED
Added comment: PMID: 42192612 reports 1 individual biallelic CTBP2 missense variants (T417A and H380R) presenting with childhood onset congenital hypothyroidism. Knockdown of ctbp2 in Zebrafish showed thyroid hypoplasia.
Sources: Literature
Bone Marrow Failure v2.6 Lucy Spencer Copied gene BPNT1 from panel Mendeliome
Bone Marrow Failure v2.6 BPNT1 Lucy Spencer gene: BPNT1 was added
gene: BPNT1 was added to Bone Marrow Failure. Sources: Expert Review Green,Literature
Mode of inheritance for gene: BPNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BPNT1 were set to 42166360
Phenotypes for gene: BPNT1 were set to Megaloblastic anemia MONDO:0001700, BPNT1-related
Mendeliome v2.64 BPNT1 Lucy Spencer Classified gene: BPNT1 as Green List (high evidence)
Mendeliome v2.64 BPNT1 Lucy Spencer Gene: bpnt1 has been classified as Green List (High Evidence).
Mendeliome v2.63 BPNT1 Lucy Spencer Classified gene: BPNT1 as Green List (high evidence)
Mendeliome v2.63 BPNT1 Lucy Spencer Gene: bpnt1 has been classified as Green List (High Evidence).
Mendeliome v2.62 BPNT1 Lucy Spencer gene: BPNT1 was added
gene: BPNT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BPNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BPNT1 were set to 42166360
Phenotypes for gene: BPNT1 were set to Megaloblastic anemia MONDO:0001700, BPNT1-related
Review for gene: BPNT1 was set to GREEN
Added comment: PMID: 42166360 reports 3 unrelated individuals with severe recurrent megaloblastic anaemia, hyperhomocysteinemia and low B12. One of the patients also had sensory ataxia, demyelination and methylmalonic acidemia. All had homozygous or compound heterozygous nonsense, frameshift or missense variants, the missense variant was shown to affect splicing.

BPNT1 null mice had low plasma B12, elevated homocysteine, and ribosome biogenesis defects.
Sources: Literature
Genetic Epilepsy v2.9 SOX10 Lucy Spencer Classified gene: SOX10 as Green List (high evidence)
Genetic Epilepsy v2.9 SOX10 Lucy Spencer Gene: sox10 has been classified as Green List (High Evidence).
Genetic Epilepsy v2.8 SOX10 Lucy Spencer gene: SOX10 was added
gene: SOX10 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX10 were set to 29792164; 35725288
Phenotypes for gene: SOX10 were set to PCWH syndrome MIM#609136
Review for gene: SOX10 was set to GREEN
Added comment: Seizures are a rare feature of this disorder and may be caused by the delayed myelination/demyelination associated with this gene. There are several reports in the literature of individuals with seizures as part of PCWH syndrome (PMIDs: 29792164, 35725288).
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.10 Lucy Spencer Copied gene HDAC2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.10 HDAC2 Lucy Spencer gene: HDAC2 was added
gene: HDAC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC2 were set to 30806031; 27620904; 38753158
Phenotypes for gene: HDAC2 were set to Neurodevelopmental disorder (MONDO:0700092), HDAC2-related
Infertility and Recurrent Pregnancy Loss v2.6 Lucy Spencer Copied gene ACTRT1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.6 ACTRT1 Lucy Spencer gene: ACTRT1 was added
gene: ACTRT1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: ACTRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ACTRT1 were set to 34422805; 39267058; 33972689; 28869610
Phenotypes for gene: ACTRT1 were set to Infertility disorder, MONDO:0005047, ACTRT1-related; Bazex-Dupre-Christol syndrome MONDO:0010535, ACTRT1-related
Autoinflammatory Disorders v3.3 FGR Peter McNaughton gene: FGR was added
gene: FGR was added to Autoinflammatory Disorders. Sources: Literature
Mode of inheritance for gene: FGR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGR were set to PMID: 31138708; PMID: 41920357
Phenotypes for gene: FGR were set to autoinflammatory bone disease; infantile vasculitis
Mode of pathogenicity for gene: FGR was set to Other
Review for gene: FGR was set to GREEN
Added comment: FGR variants reported in patients with CRMO and mouse model demonstrating inflammasome activation.
13 family members across 3 generations with vasculitis, pulmonary haemorrhage, CRMO
Sources: Literature
Autoinflammatory Disorders v3.3 HCK Peter McNaughton edited their review of gene: HCK: Added comment: 3x additional patients from 2x kindreds with neonatal onset vasculitis.; Changed rating: GREEN; Changed publications: PMID: 41920357; Changed phenotypes: Autoinflammation, mongenic vasculitis
Chromosome Breakage Disorders v2.2 XRCC2 Zornitza Stark Publications for gene: XRCC2 were set to 27208205; 22232082; 11118202
Chromosome Breakage Disorders v2.1 XRCC2 Zornitza Stark Classified gene: XRCC2 as Green List (high evidence)
Chromosome Breakage Disorders v2.1 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v2.0 XRCC2 Zornitza Stark edited their review of gene: XRCC2: Changed rating: GREEN
Chromosome Breakage Disorders v2.0 XRCC2 Zornitza Stark edited their review of gene: XRCC2: Added comment: Fanconi anaemia complementation group U (biallelic LoF): PMID 42071175, 30237576, 27208205 report three additional families with biallelic truncating XRCC2 variants.; Changed publications: 27208205, 22232082, 11118202, 42071175, 30237576, 27208205
Bone Marrow Failure v2.5 XRCC2 Zornitza Stark Phenotypes for gene: XRCC2 were changed from Fanconi anemia, complementation group U, MIM# 617247 to Fanconi anaemia, complementation group U, MIM# 617247
Bone Marrow Failure v2.4 XRCC2 Zornitza Stark Publications for gene: XRCC2 were set to 27208205; 22232082; 11118202
Bone Marrow Failure v2.3 XRCC2 Zornitza Stark Classified gene: XRCC2 as Green List (high evidence)
Bone Marrow Failure v2.3 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Green List (High Evidence).
Bone Marrow Failure v2.2 XRCC2 Zornitza Stark edited their review of gene: XRCC2: Added comment: Fanconi anaemia complementation group U (biallelic LoF): PMID 42071175, 30237576, 27208205 report three additional families with biallelic truncating XRCC2 variants.; Changed rating: GREEN; Changed publications: 27208205, 22232082, 11118202, 42071175, 30237576, 27208205; Changed phenotypes: Fanconi anaemia, complementation group U, MIM# 617247
Mendeliome v2.61 XRCC2 Zornitza Stark Classified gene: XRCC2 as Green List (high evidence)
Mendeliome v2.61 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Green List (High Evidence).
Mendeliome v2.60 XRCC2 Zornitza Stark edited their review of gene: XRCC2: Added comment: Fanconi anaemia complementation group U (biallelic LoF): PMID 42071175, 30237576, 27208205 report three additional families with biallelic truncating XRCC2 variants.

Premature ovarian insufficiency (biallelic LoF): PMID 30489636 reports a Chinese consanguineous family with a homozygous p.Leu14Pro missense variant causing POI; functional splicing assays demonstrate loss‑of‑function. Male infertility – non‑obstructive azoospermia (biallelic LoF): PMID 30489636 and PMID 30042186 describe the same p.Leu14Pro variant in two Chinese families, with histological meiotic arrest and a mouse knock‑in model recapitulating the phenotype. RED for this association.; Changed rating: GREEN; Changed publications: 42071175, 30489636, 30237576, 30042186, 27208205; Changed phenotypes: Fanconi anaemia complementation group U, MONDO:0014987, premature ovarian failure 17, MONDO:0030870, spermatogenic failure 50, MONDO:0030869
Congenital hypothyroidism v1.4 NEURL1 Zornitza Stark Marked gene: NEURL1 as ready
Congenital hypothyroidism v1.4 NEURL1 Zornitza Stark Gene: neurl1 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v1.4 Zornitza Stark Copied gene NEURL1 from panel Mendeliome
Congenital hypothyroidism v1.4 NEURL1 Zornitza Stark gene: NEURL1 was added
gene: NEURL1 was added to Congenital hypothyroidism. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NEURL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEURL1 were set to 42192612
Phenotypes for gene: NEURL1 were set to Congenital hypothyroidism, MONDO:0018612, NEURL1-related
Mendeliome v2.60 NEURL1 Zornitza Stark Marked gene: NEURL1 as ready
Mendeliome v2.60 NEURL1 Zornitza Stark Gene: neurl1 has been classified as Red List (Low Evidence).
Mendeliome v2.60 NEURL1 Zornitza Stark gene: NEURL1 was added
gene: NEURL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NEURL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEURL1 were set to 42192612
Phenotypes for gene: NEURL1 were set to Congenital hypothyroidism, MONDO:0018612, NEURL1-related
Review for gene: NEURL1 was set to RED
Added comment: PMID 42192612 reports one individual with biallelic missense NEURL1 variants (p.H68Y) causing isolated congenital hypothyroidism (childhood‑onset). Segregation analysis shows biparental inheritance. Zebrafish neurl1aa morpholino knockdown recapitulates thyroid defects.
Sources: Literature
Phagocyte Defects v2.2 SEPTIN6 Zornitza Stark Marked gene: SEPTIN6 as ready
Phagocyte Defects v2.2 SEPTIN6 Zornitza Stark Gene: septin6 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v2.2 SEPTIN6 Zornitza Stark Mode of inheritance for gene: SEPTIN6 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v2.1 SEPTIN6 Zornitza Stark edited their review of gene: SEPTIN6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v2.59 SEPTIN6 Zornitza Stark Mode of inheritance for gene: SEPTIN6 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v2.58 SEPTIN6 Zornitza Stark edited their review of gene: SEPTIN6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v2.2 SEPTIN6 Zornitza Stark Marked gene: SEPTIN6 as ready
Bone Marrow Failure v2.2 SEPTIN6 Zornitza Stark Gene: septin6 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v2.2 SEPTIN6 Zornitza Stark edited their review of gene: SEPTIN6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v2.2 SEPTIN6 Zornitza Stark Mode of inheritance for gene: SEPTIN6 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phagocyte Defects v2.1 Zornitza Stark Copied gene SEPTIN6 from panel Mendeliome
Phagocyte Defects v2.1 SEPTIN6 Zornitza Stark gene: SEPTIN6 was added
gene: SEPTIN6 was added to Phagocyte Defects. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SEPTIN6 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: SEPTIN6 were set to 42088107; 34677878
Phenotypes for gene: SEPTIN6 were set to Inborn error of immunity, MONDO:0003778, SEPTIN6-related
Bone Marrow Failure v2.1 Zornitza Stark Copied gene SEPTIN6 from panel Mendeliome
Bone Marrow Failure v2.1 SEPTIN6 Zornitza Stark gene: SEPTIN6 was added
gene: SEPTIN6 was added to Bone Marrow Failure. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SEPTIN6 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: SEPTIN6 were set to 42088107; 34677878
Phenotypes for gene: SEPTIN6 were set to Inborn error of immunity, MONDO:0003778, SEPTIN6-related
Mendeliome v2.58 SEPTIN6 Zornitza Stark Marked gene: SEPTIN6 as ready
Mendeliome v2.58 SEPTIN6 Zornitza Stark Gene: septin6 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.58 SEPTIN6 Zornitza Stark Classified gene: SEPTIN6 as Amber List (moderate evidence)
Mendeliome v2.58 SEPTIN6 Zornitza Stark Gene: septin6 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.57 SEPTIN6 Zornitza Stark gene: SEPTIN6 was added
gene: SEPTIN6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEPTIN6 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: SEPTIN6 were set to 42088107; 34677878
Phenotypes for gene: SEPTIN6 were set to Inborn error of immunity, MONDO:0003778, SEPTIN6-related
Review for gene: SEPTIN6 was set to AMBER
Added comment: PMID 34677878 and PMID 42088107 report three patients from two independent families with X‑linked severe congenital neutropenia, B‑cell aplasia and variable T‑cell lymphopenia caused by stop‑loss variants in SEPTIN6; one is inherited from unaffected mother (two affected sibs) and the other is de novo.

Functional studies in PMID 34677878: patient skin fibroblast-derived induced pluripotent stem cells (iPSCs) produced reduced myeloid colonies, particularly of the granulocyte lineage. CRISPR/Cas9 knock-in of the patient's mutation or complete knock-out of SEPT6 was not tolerated in non-patient-derived iPSCs or human myeloid cell lines, but SEPT6 knock-out was successful in an erythroid cell line and resulting clones revealed a propensity to multinucleation. In silico analysis predicted that the mutated protein hinders the dimerization of SEPT6 coiled-coils in both parallel and antiparallel arrangements, which could in turn impair filament formation.
Sources: Literature
Cardiomyopathy_Paediatric v1.1 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Cardiomyopathy_Paediatric v1.1 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.1 Zornitza Stark Copied gene FBN1 from panel Dilated Cardiomyopathy
Cardiomyopathy_Paediatric v1.1 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to PMID: 39900832; 24531548
Phenotypes for gene: FBN1 were set to MONDO:0007947 Marfan Syndrome
Dilated Cardiomyopathy v2.7 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Dilated Cardiomyopathy v2.7 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v2.7 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from MONDO:0005021 Dilated Cardiomyopathy; MONDO:0007947 Marfan Syndrome; MONDO:0019625 Familial Thoracic Aortic Aneurysm and Aortic Dissection to MONDO:0007947 Marfan Syndrome
Dilated Cardiomyopathy v2.6 FBN1 Zornitza Stark Classified gene: FBN1 as Amber List (moderate evidence)
Dilated Cardiomyopathy v2.6 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Brugada syndrome v1.3 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from Atrial fibrillation, familial, 10; Brugada syndrome 1; Cardiomyopathy, dilated, 1E; Heart block, nonprogressive; Heart block, progressive, type IA; Long QT syndrome 3; Sick sinus syndrome 1; Ventricular fibrillation, familial, 1; {Sudden infant death syndrome, susceptibility to} to SCN5A-related cardiac rhythm disorder MONDO:1010181; Brugada syndrome; Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome
Brugada syndrome v1.2 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 29806494; 18929244
Dilated Cardiomyopathy v2.5 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from Cardiomyopathy, dilated, 1E, MIM# 601154 to Cardiomyopathy, dilated, 1E, MIM# 601154; Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome; SCN5A-related cardiac rhythm disorder MONDO:1010181
Dilated Cardiomyopathy v2.4 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 15671429; 15671429; 19808398; 21596231; 20458009; 22675453; 22766342; 22999724; 29871609; 29506689; 31514951; 31930659; 31520233; 17512504; 21824921; 30218094
Long QT Syndrome v1.3 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 29798782
Long QT Syndrome v1.2 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from Long QT syndrome 3 (MIM#603830) to Long QT syndrome 3 (MIM#603830); Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome; SCN5A-related cardiac rhythm disorder MONDO:1010181
Long QT Syndrome v1.1 Zornitza Stark Added reviews for gene SCN5A from panel Cardiac conduction disease
Dilated Cardiomyopathy v2.3 Zornitza Stark Added reviews for gene SCN5A from panel Cardiac conduction disease
Brugada syndrome v1.1 Zornitza Stark Added reviews for gene SCN5A from panel Cardiac conduction disease
Cardiac conduction disease v2.2 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Cardiac conduction disease v2.2 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Cardiac conduction disease v2.2 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from progressive familial heart block MONDO:0019490; SCN5A-related cardiac rhythm disorder MONDO:1010181 to progressive familial heart block MONDO:0019490; SCN5A-related cardiac rhythm disorder MONDO:1010181; Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome
Cardiac conduction disease v2.1 SCN5A Zornitza Stark Publications for gene: SCN5A were set to 39134129; 11804990; 16643399; 15466643
Dilated Cardiomyopathy v2.2 FBN1 Natasha Henden gene: FBN1 was added
gene: FBN1 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to PMID: 39900832; 24531548
Phenotypes for gene: FBN1 were set to MONDO:0005021 Dilated Cardiomyopathy; MONDO:0007947 Marfan Syndrome; MONDO:0019625 Familial Thoracic Aortic Aneurysm and Aortic Dissection
Review for gene: FBN1 was set to AMBER
Added comment: Dilated cardiomyopathy (DCM) is increasingly recognised as a primary manifestation of Marfan Syndrome (MFS) and/or FBN1 haploinsufficiency. Intrinsic cardiomyopathy characterised by left ventricular dilation and dysfunction has been observed in 13-21.7% and 16-39.8% of paediatric and adult MFS patients, respectively; with approximately 23% of these patients presenting without concomitant valvular disease, and at least 3% of adult patients (n=3 of 97 adult MFS patients from the GenTAC registry) presenting with ventricular only and not aortic dilation (PMID: 39900832, PMID: 24531548).

Additionally, fibrillin-1 haploinsufficiency murine models manifest primary DCM due to abnormal mechano-signalling in cardiomyocytes. Observation of increased angiotensin II receptor signalling and reduced focal adhesion kinase activity indicates chronic mechanical stress in cardiomyocytes drives DCM presentation and progression, in otherwise phenotypically normal fibrillin-1-deficient mice (PMID: 24531548).
Sources: Literature
Cardiac conduction disease v2.0 SCN5A Natasha Henden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22766342, 41159261; Phenotypes: Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome, SCN5A-related cardiac rhythm disorder MONDO:1010181; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.56 TLR1 Zornitza Stark Phenotypes for gene: TLR1 were changed from Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223; Inborn error of immunity, MONDO:0003778, TLR1-related to Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223; IInflammatory bowel disease 32, MIM# 621601
Mendeliome v2.55 TLR1 Zornitza Stark edited their review of gene: TLR1: Changed phenotypes: Inflammatory bowel disease 32, MIM# 621601
Disorders of immune dysregulation v2.1 TLR1 Zornitza Stark Phenotypes for gene: TLR1 were changed from Inborn error of immunity, MONDO:0003778, TLR1-related to Inflammatory bowel disease 32, MIM# 621601
Disorders of immune dysregulation v2.0 TLR1 Zornitza Stark edited their review of gene: TLR1: Changed phenotypes: Inflammatory bowel disease 32, MIM# 621601
Intellectual disability syndromic and non-syndromic v2.9 DOP1A Zornitza Stark Marked gene: DOP1A as ready
Intellectual disability syndromic and non-syndromic v2.9 DOP1A Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence).
Genetic Epilepsy v2.7 DOP1A Zornitza Stark Marked gene: DOP1A as ready
Genetic Epilepsy v2.7 DOP1A Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.9 Zornitza Stark Copied gene DOP1A from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.9 DOP1A Zornitza Stark gene: DOP1A was added
gene: DOP1A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DOP1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DOP1A were set to 42164854; 38818041
Phenotypes for gene: DOP1A were set to Neurodevelopmental disorder, MONDO:0700092, DOP1A-related
Genetic Epilepsy v2.7 Zornitza Stark Copied gene DOP1A from panel Mendeliome
Genetic Epilepsy v2.7 DOP1A Zornitza Stark gene: DOP1A was added
gene: DOP1A was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DOP1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DOP1A were set to 42164854; 38818041
Phenotypes for gene: DOP1A were set to Neurodevelopmental disorder, MONDO:0700092, DOP1A-related
Aortopathy_Connective Tissue Disorders v2.0 GORAB Deepak Subramanian changed review comment from: Classified in 2025 as Definitive gene-disease validity in ClinGen (https://search.clinicalgenome.org/CCID:008904), based on genetic and experimental evidence from papers cited below.; to: Classified in 2025 as Definitive gene-disease validity in ClinGen (https://search.clinicalgenome.org/CCID:008904), based on genetic and experimental evidence from papers cited below.
Aortopathy_Connective Tissue Disorders v2.0 GORAB Deepak Subramanian reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18997784, 19681135, 28807865, 39619733, 18997784, 29108851, 29561836, 39234801; Phenotypes: Geroderma osteodysplasticum, MIM #231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.55 MEI1 Zornitza Stark Phenotypes for gene: MEI1 were changed from Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619 to Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619; Oocyte/zygote/embryo maturation arrest 26, MIM# 621620
Mendeliome v2.54 MEI1 Zornitza Stark edited their review of gene: MEI1: Changed phenotypes: Recurrent hydatidiform mole 3, MIM# 618431, Spermatogenic failure 103, MIM# 621619, Oocyte/zygote/embryo maturation arrest 26, MIM# 621620
Infertility and Recurrent Pregnancy Loss v2.5 MEI1 Zornitza Stark Phenotypes for gene: MEI1 were changed from Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619 to Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619; Oocyte/zygote/embryo maturation arrest 26, MIM# 621620
Infertility and Recurrent Pregnancy Loss v2.4 MEI1 Zornitza Stark edited their review of gene: MEI1: Changed phenotypes: Spermatogenic failure 103, MIM# 621619, Oocyte/zygote/embryo maturation arrest 26, MIM# 621620
Mendeliome v2.54 MEI1 Zornitza Stark Phenotypes for gene: MEI1 were changed from Recurrent hydatidiform mole 3, MIM# 618431; Non-obstructive azoospermia to Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619
Mendeliome v2.53 MEI1 Zornitza Stark edited their review of gene: MEI1: Changed phenotypes: Recurrent hydatidiform mole 3, MIM# 618431, Spermatogenic failure 103, MIM# 621619
Infertility and Recurrent Pregnancy Loss v2.4 MEI1 Zornitza Stark Phenotypes for gene: MEI1 were changed from Recurrent hydatidiform mole 3, MIM# 618431; Non-obstructive azoospermia to Recurrent hydatidiform mole 3, MIM# 618431; Spermatogenic failure 103, MIM# 621619
Infertility and Recurrent Pregnancy Loss v2.3 MEI1 Zornitza Stark reviewed gene: MEI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 103, MIM# 621619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v2.3 CCDC174 Sarah Milton Classified gene: CCDC174 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v2.3 CCDC174 Sarah Milton Gene: ccdc174 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v2.2 CCDC174 Sarah Milton gene: CCDC174 was added
gene: CCDC174 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: CCDC174 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC174 were set to 42120494
Phenotypes for gene: CCDC174 were set to Infertility disorder, MONDO:0005047, CCDC174-related
Review for gene: CCDC174 was set to GREEN
Added comment: CCDC174 encodes a protein thought to be involved in regulation of alternative splicing and of mRNAs by interacting with the PRP19/CDC5L complex. It is highly expressed in oocytes.

PMID 42120494 reports five females with biallelic variants (missense or frameshift) in CCDC174 presenting with primary infertility due to oocyte maturation arrest, fertilisation failure or early embryonic arrest.
Variants were at appropriate frequencies in gnomAD v4 for a rare recessive disorder.

Supportive mouse studies with oocyte specific knockout of CCDC174 recapitulating the infertility phenotype. Homozygous germline wide knockout mice were neonatal lethal.
Sources: Literature
Mendeliome v2.53 CCDC174 Sarah Milton Classified gene: CCDC174 as Green List (high evidence)
Mendeliome v2.53 CCDC174 Sarah Milton Gene: ccdc174 has been classified as Green List (High Evidence).
Mendeliome v2.52 CCDC174 Sarah Milton reviewed gene: CCDC174: Rating: GREEN; Mode of pathogenicity: None; Publications: 42120494, 26358778; Phenotypes: Infertility disorder, MONDO:0005047, CCDC174-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.2 ID4 downstream regulatory region Sarah Milton Classified Region: ID4 downstream regulatory region as Green List (high evidence)
Fetal anomalies v2.2 ID4 downstream regulatory region Sarah Milton Region: id4 downstream regulatory region has been classified as Green List (High Evidence).
Fetal anomalies v2.1 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Fetal anomalies. Sources: Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Review for Region: ID4 downstream regulatory region was set to GREEN
Added comment: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype, as such, dysregulated expression as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Skeletal dysplasia v1.2 ID4 downstream regulatory region Sarah Milton Classified Region: ID4 downstream regulatory region as Green List (high evidence)
Skeletal dysplasia v1.2 ID4 downstream regulatory region Sarah Milton Region: id4 downstream regulatory region has been classified as Green List (High Evidence).
Skeletal dysplasia v1.1 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Skeletal dysplasia. Sources: Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Review for Region: ID4 downstream regulatory region was set to GREEN
Added comment: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype, as such, dysregulated expression as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Congenital hypothyroidism v1.3 CNTN6 Sarah Milton reviewed gene: CNTN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 42192612; Phenotypes: Congenital hypothyroidism, MONDO:0018612, CNTN6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.52 CNTN6 Sarah Milton reviewed gene: CNTN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 42192612, 30826922; Phenotypes: Congenital hypothyroidism, MONDO:0018612, CNTN6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.52 CNTN6 Sarah Milton Deleted their review
Mendeliome v2.52 CNTN6 Sarah Milton reviewed gene: CNTN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 42192612; Phenotypes: Congenital hypothyroidism, MONDO:0018612, CNTN6-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.455 Sarah Milton Copied Region ID4 downstream regulatory region from panel Mendeliome
Skeletal dysplasia v0.455 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Skeletal dysplasia. Sources: Expert Review Green,Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Fetal anomalies v1.589 Sarah Milton Copied Region ID4 downstream regulatory region from panel Mendeliome
Fetal anomalies v1.589 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Fetal anomalies. Sources: Expert Review Green,Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Mendeliome v2.52 ID4 downstream regulatory region Sarah Milton Classified Region: ID4 downstream regulatory region as Green List (high evidence)
Mendeliome v2.52 ID4 downstream regulatory region Sarah Milton Region: id4 downstream regulatory region has been classified as Green List (High Evidence).
Mendeliome v2.51 ID4 downstream regulatory region Sarah Milton changed review comment from: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype as such dysregulation as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature; to: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype, as such, dysregulated expression as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Mendeliome v2.51 ID4 downstream regulatory region Sarah Milton changed review comment from: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions and one inversion) affecting the region downstream of ID4. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype as such dysregulation as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature; to: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions of around 2mb in size and one inversion) affecting the region downstream of ID4 at 6p22.3. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype as such dysregulation as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Mendeliome v2.51 ID4 downstream regulatory region Sarah Milton Region: ID4 downstream regulatory region was added
Region: ID4 downstream regulatory region was added to Mendeliome. Sources: Literature
regulatory region tags were added to Region: ID4 downstream regulatory region.
Mode of inheritance for Region: ID4 downstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ID4 downstream regulatory region were set to 42069959; 26032025; 24628666
Phenotypes for Region: ID4 downstream regulatory region were set to Mesomelic dysplasia, Savarirayan type, MIM#605274
Review for Region: ID4 downstream regulatory region was set to GREEN
Added comment: ID4 encodes inhibitor of DNA binding 4 (ID4) protein which modulates gene expression through binding to and inhibiting bHLH transcription factors. It is involved in regulation of cellular growth, senescence, differentiation and apoptosis. It is known to be expressed in the developing limb bud.

PMID: 42069959, 26032025, 24628666 report a total of 5 individuals with de novo structural variants (deletions and one inversion) affecting the region downstream of ID4. The clinical presentation of these individuals was that of Mesomelic dysplasia, Savarirayan type characterised by mesomelic shortening of the lower limbs with the upper limbs affected in some individuals and specific radiographic findings.

The deletions encompassed 4 protein coding genes none of which are involved in skeletal development. As such it was hypothesized these structural variants disrupt TADs resulting in ID4 dysregulation, bringing the gene in closer proximity to a cluster of enhancers downstream.

Deletions involving the ID4 gene did not recapitulate the phenotype as such dysregulation as opposed to loss of function is thought to be the mechanism.

There are no equivalent deletions in population databases (gnomAD/DGV gold)

Hi-C studies have been performed however functional studies using luciferase reporter assays/qPCR of ID4 have not yet been published.

Note: Coordinates used for this entry are that of the smallest reported deletion.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v1.2 MEIOSIN Sangavi Sivagnanasundram gene: MEIOSIN was added
gene: MEIOSIN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MEIOSIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIOSIN were set to 42177587; 37982418
Phenotypes for gene: MEIOSIN were set to MEIOSIN-related premature ovarian insufficiency (POI) MONDO:0005047
Review for gene: MEIOSIN was set to AMBER
Added comment: PMID: 379882418 - A female proband from a consanguineous family with POI.
Homozygous missense variant - R579W (singleton - AF 0.0004%). Her sisters are heterozygous carriers for this variant and were clinically unaffected.

PMID: 42177587 - Two Chinese sisters from non-consanguineous parents presenting with POI.
Compound heterozygous variants identified in trans Leu327Pro; His356fs*14 - both variants absent from gnomAD v4.1.

Supportive functional assays (dual‑luciferase reporter) show reduced transcriptional activation of meiotic genes, and a knock‑in mouse model carrying the homozygous variant recapitulates infertility, supporting a loss‑of‑function mechanism however, further evidence is required to definitely support the mechanism of disease.

There is no Morbid OMIM entry for this gene disease association.
Only one variant in this gene has been reported in ClinVar (p.Ser462_Ser465dup, has been classified as likely Benign).
According to GTex, this gene is highly expressed in the testis but has low expression in the ovaries.
Remain as AMBER pending further evidence.
Sources: Literature
Mendeliome v2.50 MEIOSIN Sangavi Sivagnanasundram gene: MEIOSIN was added
gene: MEIOSIN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEIOSIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIOSIN were set to 42177587; 37982418
Phenotypes for gene: MEIOSIN were set to MEIOSIN-related premature ovarian insufficiency (POI) MONDO:0005047
Review for gene: MEIOSIN was set to AMBER
Added comment: PMID: 379882418 - A female proband from a consanguineous family with POI.
Homozygous missense variant - R579W (singleton - AF 0.0004%). Her sisters are heterozygous carriers for this variant and were clinically unaffected.

PMID: 42177587 - Two Chinese sisters from non-consanguineous parents presenting with POI.
Compound heterozygous variants identified in trans Leu327Pro; His356fs*14 - both variants absent from gnomAD v4.1.

Supportive functional assays (dual‑luciferase reporter) show reduced transcriptional activation of meiotic genes, and a knock‑in mouse model carrying the homozygous variant recapitulates infertility, supporting a loss‑of‑function mechanism however, further evidence is required to definitely support the mechanism of disease.

There is no Morbid OMIM entry for this gene disease association.
Only one variant in this gene has been reported in ClinVar (p.Ser462_Ser465dup, has been classified as likely Benign).
According to GTex, this gene is highly expressed in the testis but has low expression in the ovaries.
Remain as AMBER pending further evidence.
Sources: Literature
Dilated Cardiomyopathy v2.2 FBXO32 chirag patel Classified gene: FBXO32 as Amber List (moderate evidence)
Dilated Cardiomyopathy v2.2 FBXO32 chirag patel Gene: fbxo32 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v2.1 FBXO32 chirag patel Marked gene: FBXO32 as ready
Dilated Cardiomyopathy v2.1 FBXO32 chirag patel Gene: fbxo32 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v2.1 FBXO32 chirag patel gene: FBXO32 was added
gene: FBXO32 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FBXO32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO32 were set to 36344977; 34272480; 26768247; 26753747
Phenotypes for gene: FBXO32 were set to Dilated cardiomyopathy, MONDO:0005021, FBXO32-related
Review for gene: FBXO32 was set to AMBER
Added comment: PMID 26768247, PMID 36344977 and PMID 26753747 report 10 individuals from 3 unrelated consanguineous families with homozygous variants in FBXO32 (but 2 families are from Saudi Arabia and have the same variant). Individuals had dilated cardiomyopathy with diagnosis in late childhood to early adulthood. The 2 homozygous variants were rare and shown to segregate in the family with unaffected heterozygous parents and siblings.

The Saudi Arabian variant (p.Gly243Arg) was shown to severely impair binding to SCF proteins using co-immunoprecipitation experiments from cells expressing the mutant protein and from human heart tissue from 2 of the affected patients. Immunohistochemical analysis of the FBXO32 protein showed cytoplasmic staining with reduced expression in the left ventricle of the index case. The Iranian variant (p.Lys295del) was modelled in silico to show loss of nuclear localisation.
Sources: Literature
Mendeliome v2.49 FBXO32 chirag patel Marked gene: FBXO32 as ready
Mendeliome v2.49 FBXO32 chirag patel Gene: fbxo32 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.49 FBXO32 chirag patel Classified gene: FBXO32 as Amber List (moderate evidence)
Mendeliome v2.49 FBXO32 chirag patel Gene: fbxo32 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.48 FBXO32 chirag patel gene: FBXO32 was added
gene: FBXO32 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXO32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO32 were set to 36344977; 34272480; 26768247; 26753747
Phenotypes for gene: FBXO32 were set to Dilated cardiomyopathy, MONDO:0005021, FBXO32-related
Review for gene: FBXO32 was set to AMBER
Added comment: PMID 26768247, PMID 36344977 and PMID 26753747 report 10 individuals from 3 unrelated consanguineous families with homozygous variants in FBXO32 (but 2 families are from Saudi Arabia and have the same variant). Individuals had dilated cardiomyopathy with diagnosis in late childhood to early adulthood. The 2 homozygous variants were rare and shown to segregate in the family with unaffected heterozygous parents and siblings.

The Saudi Arabian variant (p.Gly243Arg) was shown to severely impair binding to SCF proteins using co-immunoprecipitation experiments from cells expressing the mutant protein and from human heart tissue from 2 of the affected patients. Immunohistochemical analysis
of the FBXO32 protein showed cytoplasmic staining with reduced expression in the left ventricle of the index case. The Iranian variant (p.Lys295del) was modelled in silico to show loss of nuclear localisation.
Sources: Literature
Congenital hypothyroidism v1.3 DTX2 Rylee Peters Marked gene: DTX2 as ready
Congenital hypothyroidism v1.3 DTX2 Rylee Peters Gene: dtx2 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v1.3 DTX2 Rylee Peters gene: DTX2 was added
gene: DTX2 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: DTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTX2 were set to 42192612
Phenotypes for gene: DTX2 were set to Congenital hypothyroidism, MONDO:0018612, DTX2-related
Review for gene: DTX2 was set to RED
Added comment: PMID: 42192612 reports 1 individual from 1 family with biallelic missense DTX2 variants (variants not phased/segregated) presenting with congenital hypothyroidism, isolated thyroid dysfunction, childhood‑onset. Zebrafish morpholino knockdown of dtx2 caused thyroid hypoplasia and reduced T4.
Sources: Literature
Mendeliome v2.47 PAM chirag patel Marked gene: PAM as ready
Mendeliome v2.47 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Mendeliome v2.47 PAM chirag patel Classified gene: PAM as Amber List (moderate evidence)
Mendeliome v2.47 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Pituitary Tumour v2.2 PAM chirag patel Marked gene: PAM as ready
Pituitary Tumour v2.2 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Pituitary Tumour v2.2 PAM chirag patel Classified gene: PAM as Amber List (moderate evidence)
Pituitary Tumour v2.2 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Mendeliome v2.46 PAM chirag patel gene: PAM was added
gene: PAM was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAM were set to 37388215
Phenotypes for gene: PAM were set to Pituitary gland adenoma MONDO:0006373
Review for gene: PAM was set to AMBER
Added comment: PMID 37388215 reports 7 individuals from 5 unrelated families with heterozygous loss-of-function PAM variants causing pituitary hypersecretion (3 x childhood‑onset gigantism or adult acromegaly, 2 x paediatric ACTH‑dependent Cushing disease). All variants (3 x missense, 1 x frameshift, 1 x 5'UTR) were rare and shown to be loss of function using protein expression and trafficking by Western blotting, splicing by minigene assays, and amidation activity in cell lysates and serum samples.
Sources: Literature
Pituitary Tumour v2.1 PAM chirag patel gene: PAM was added
gene: PAM was added to Pituitary Tumour. Sources: Literature
Mode of inheritance for gene: PAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAM were set to 37388215
Phenotypes for gene: PAM were set to Pituitary gland adenoma MONDO:0006373
Review for gene: PAM was set to AMBER
Added comment: PMID 37388215 reports 7 individuals from 5 unrelated families with heterozygous loss-of-function PAM variants causing pituitary hypersecretion (3 x childhood‑onset gigantism or adult acromegaly, 2 x paediatric ACTH‑dependent Cushing disease). All variants (3 x missense, 1 x frameshift, 1 x 5'UTR) were rare and shown to be loss of function using protein expression and trafficking by Western blotting, splicing by minigene assays, and amidation activity in cell lysates and serum samples.
Sources: Literature
Autoinflammatory Disorders v3.3 SERPINA3 chirag patel Marked gene: SERPINA3 as ready
Autoinflammatory Disorders v3.3 SERPINA3 chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v3.3 SERPINA3 chirag patel Classified gene: SERPINA3 as Amber List (moderate evidence)
Autoinflammatory Disorders v3.3 SERPINA3 chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v3.2 SERPINA3 chirag patel gene: SERPINA3 was added
gene: SERPINA3 was added to Autoinflammatory Disorders. Sources: Literature
Mode of inheritance for gene: SERPINA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SERPINA3 were set to 36828876; 33961311; 31945348
Phenotypes for gene: SERPINA3 were set to Pustular psoriasis, MONDO:0022205
Review for gene: SERPINA3 was set to AMBER
Added comment: PMID 31945348, PMID 36828876 and PMID 33961311 report 10 individuals from 8 unrelated families with monoallelic loss‑of‑function SERPINA3 variants causing generalized pustular psoriasis (GPP) spanning childhood‑onset to adult‑onset (1 case with palmoplantar pustular psoriasis (PPP)). Functional studies demonstrate loss of SERPINA3 protein for truncating variants, although rescue or animal‑model data are lacking, and missense alleles often exceed population‑frequency thresholds. Some individuals (5/6) in PMID 36828876 also had variants in other GPP genes that may be causative. Segregation not documented for families.
Sources: Literature
Mendeliome v2.45 SERPINA3 chirag patel Phenotypes for gene: SERPINA3 were changed from Pustular psoriasis, MONDO:0022205 to Pustular psoriasis, MONDO:0022205
Mendeliome v2.45 SERPINA3 chirag patel Phenotypes for gene: SERPINA3 were changed from Inborn error of immunity, MONDO:0003778 to Pustular psoriasis, MONDO:0022205
Mendeliome v2.44 SERPINA3 chirag patel Marked gene: SERPINA3 as ready
Mendeliome v2.44 SERPINA3 chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.44 SERPINA3 chirag patel Classified gene: SERPINA3 as Amber List (moderate evidence)
Mendeliome v2.44 SERPINA3 chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.43 SERPINA3 chirag patel Deleted their comment
Mendeliome v2.43 SERPINA3 chirag patel edited their review of gene: SERPINA3: Added comment: PMID 31945348, PMID 36828876 and PMID 33961311 report 10 individuals from 8 unrelated families with monoallelic loss‑of‑function SERPINA3 variants causing generalized pustular psoriasis (GPP) spanning childhood‑onset to adult‑onset (1 case with palmoplantar pustular psoriasis (PPP)). Functional studies demonstrate loss of SERPINA3 protein for truncating variants, although rescue or animal‑model data are lacking, and missense alleles often exceed population‑frequency thresholds. Some individuals (5/6) in PMID 36828876 also had variants in other GPP genes that may be causative. Segregation not documented for families.; Changed phenotypes: Pustular psoriasis, MONDO:0022205
Mendeliome v2.43 SERPINA3 chirag patel gene: SERPINA3 was added
gene: SERPINA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SERPINA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SERPINA3 were set to 36828876; 33961311; 31945348
Phenotypes for gene: SERPINA3 were set to Inborn error of immunity, MONDO:0003778
Review for gene: SERPINA3 was set to AMBER
Added comment: PMID 31945348, PMID 36828876 and PMID 33961311 report 10 individuals from 8 unrelated families with monoallelic loss‑of‑function SERPINA3 variants causing generalized pustular psoriasis (GPP) spanning childhood‑onset to adult‑onset (1 case with palmoplantar pustular psoriasis (PPP)). Functional studies demonstrate loss of SERPINA3 protein for truncating variants, although rescue or animal‑model data are lacking, and missense alleles often exceed population‑frequency thresholds. Some individuals (5/6) in PMID 36828876 also had variants in other GPP genes that may be causative. Segregation not documented for families.
Sources: Literature
Genetic Epilepsy v2.6 MAGED1 Sarah Milton Classified gene: MAGED1 as Amber List (moderate evidence)
Genetic Epilepsy v2.6 MAGED1 Sarah Milton Gene: maged1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v2.5 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Review for gene: MAGED1 was set to AMBER
Added comment: MAGED1 encodes Melanoma-Associated Antigen D1. It is expressed in the developing brain and is involved in controlling cell cycle progression and neuronal apoptosis.

PMID 42162770 reports two unrelated male probands with de novo variants in MAGED1 presenting with epileptic spasms and severe intellectual disability.
One frameshift and one missense variant we observed.
It should be noted the missense variant was present in gnomAD v4 with 3 heterozygotes.

Functional studies were performed demonstrating altered protein interactions and changes to cell cycle progression.
Proposed mechanism of disease (GOF vs LOF) remains unclear.
Sources: Literature
Intellectual disability syndromic and non-syndromic v2.8 MAGED1 Sarah Milton Classified gene: MAGED1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v2.8 MAGED1 Sarah Milton Gene: maged1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.7 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Review for gene: MAGED1 was set to AMBER
Added comment: MAGED1 encodes Melanoma-Associated Antigen D1. It is expressed in the developing brain and is involved in controlling cell cycle progression and neuronal apoptosis.

PMID 42162770 reports two unrelated male probands with de novo variants in MAGED1 presenting with epileptic spasms and severe intellectual disability.
One frameshift and one missense variant we observed.
It should be noted the missense variant was present in gnomAD v4 with 3 heterozygotes.

Functional studies were performed demonstrating altered protein interactions and changes to cell cycle progression.
Proposed mechanism of disease (GOF vs LOF) remains unclear.
Sources: Literature
Genomic newborn screening: ICoNS v1.12 ACAT1 Lilian Rudd gene: ACAT1 was added
gene: ACAT1 was added to Genomic newborn screening: ICoNS. Sources: Expert List
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760
Added comment: Well established gene-disease association. DEFINITIVE by ClinGen.

Childhood onset, presents with metabolic acidosis.

Non-genetic confirmatory testing: urine organic acids, plasma acylcarnitine profile

Treatment: avoid fasting, carnitine, riboflavin, protein restricted diet
Sources: Expert List
Intellectual disability syndromic and non-syndromic v1.834 Sarah Milton Copied gene MAGED1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.834 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Genetic Epilepsy v1.437 Sarah Milton Copied gene MAGED1 from panel Mendeliome
Genetic Epilepsy v1.437 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Mendeliome v2.42 MAGED1 Sarah Milton Classified gene: MAGED1 as Amber List (moderate evidence)
Mendeliome v2.42 MAGED1 Sarah Milton Gene: maged1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.41 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAGED1 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: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Review for gene: MAGED1 was set to AMBER
Added comment: MAGED1 encodes Melanoma-Associated Antigen D1. It is expressed in the developing brain and is involved in controlling cell cycle progression and neuronal apoptosis.

PMID 42162770 reports two unrelated male probands with de novo variants in MAGED1 presenting with epileptic spasms and severe intellectual disability.
One frameshift and one missense variant we observed.
It should be noted the missense variant was present in gnomAD v4 with 3 heterozygotes.

Functional studies were performed demonstrating altered protein interactions and changes to cell cycle progression.
Proposed mechanism of disease (GOF vs LOF) remains unclear.
Sources: Literature
Genomic newborn screening: ICoNS v1.11 SLC25A13 Lilian Rudd gene: SLC25A13 was added
gene: SLC25A13 was added to Genomic newborn screening: ICoNS. Sources: Expert List
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A13 were set to 18367750, 10369257, 19036621, 18392553, 21914561, 11343052, 11343053, 31607264
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, MIM# 605814
Added comment: Definitive gene disease association by ClinGen
'Moderate' paediatric and adult actionability

Symptoms of Citrin deficiency (caused by a deficiency of a mitochondrial shuttle function), usually appear during adulthood and mainly affect the nervous system; some patients previously experienced neonatal intrahepatic cholestatic icterus (OMIM# 605814). Characteristic features include confusion, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening, and are known to be triggered by certain medications, infections, and alcohol intake in people with type II citrullinemia. Intellectual disability is one of the main sequelae.

High-protein/high-fat/low-carbohydrate diet, avoid fasting, avoid glucose iv, lactose restriction, medium -chain triglycerides ***Started as soon as diagnosis is made
improves behavioural/psychiatric disturbance(s); prevents acute metabolic decompensation; prevents, halts, or slows clinical deterioration; improves neurological manifestations (incl. neuro-imaging); improves seizure/epilepsy control; improves systemic manifestations. Some go on to needing liver transplantation
Sources: Expert List
Intellectual disability syndromic and non-syndromic v2.6 DSCAM chirag patel reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 42063257, 28600779, 33170561; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.40 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Intellectual disability syndromic and non-syndromic v2.6 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Autism; ID to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.39 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Intellectual disability syndromic and non-syndromic v2.5 DSCAM chirag patel Publications for gene: DSCAM were set to PMID: 27824329; 28191889; 21904980
Intellectual disability syndromic and non-syndromic v2.4 DSCAM chirag patel Mode of inheritance for gene: DSCAM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.3 DSCAM chirag patel Classified gene: DSCAM as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v2.3 DSCAM chirag patel Gene: dscam has been classified as Green List (High Evidence).
Genetic Epilepsy v2.4 DSCAM chirag patel Classified gene: DSCAM as Green List (high evidence)
Genetic Epilepsy v2.4 DSCAM chirag patel Gene: dscam has been classified as Green List (High Evidence).
Genetic Epilepsy v2.3 DSCAM chirag patel Marked gene: DSCAM as ready
Genetic Epilepsy v2.3 DSCAM chirag patel Gene: dscam has been classified as Red List (Low Evidence).
Syndromic Retinopathy v1.2 DSCAM chirag patel Marked gene: DSCAM as ready
Syndromic Retinopathy v1.2 DSCAM chirag patel Gene: dscam has been classified as Green List (High Evidence).
Syndromic Retinopathy v1.2 DSCAM chirag patel Classified gene: DSCAM as Green List (high evidence)
Syndromic Retinopathy v1.2 DSCAM chirag patel Gene: dscam has been classified as Green List (High Evidence).
Syndromic Retinopathy v1.1 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: DSCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related
Review for gene: DSCAM was set to GREEN
Added comment: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction (6 individuals from 4 families).

PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue).

PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided.

PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes.
Sources: Literature
Genetic Epilepsy v2.3 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DSCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related
Review for gene: DSCAM was set to GREEN
Added comment: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction (6 individuals from 4 families).

PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue).

PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided.

PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes.
Sources: Literature
Mendeliome v2.38 DSCAM chirag patel changed review comment from: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction.

PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue).

PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided.

PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes.

NB: Green for biallelic, Amber for monoallelic; to: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction (6 individuals from 4 families).

PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue).

PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided.

PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes.

NB: Green for biallelic, Amber for monoallelic
Genomic newborn screening: ICoNS v1.10 RPS24 Lilian Rudd Classified gene: RPS24 as Green List (high evidence)
Genomic newborn screening: ICoNS v1.10 RPS24 Lilian Rudd Gene: rps24 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.9 RPS17 Lilian Rudd Classified gene: RPS17 as Green List (high evidence)
Genomic newborn screening: ICoNS v1.9 RPS17 Lilian Rudd Gene: rps17 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.8 RPL5 Lilian Rudd Classified gene: RPL5 as Green List (high evidence)
Genomic newborn screening: ICoNS v1.8 RPL5 Lilian Rudd Gene: rpl5 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.7 RPL5 Lilian Rudd Marked gene: RPL5 as ready
Genomic newborn screening: ICoNS v1.7 RPL5 Lilian Rudd Gene: rpl5 has been removed from the panel.
Genomic newborn screening: ICoNS v1.7 RPL11 Lilian Rudd Classified gene: RPL11 as Green List (high evidence)
Genomic newborn screening: ICoNS v1.7 RPL11 Lilian Rudd Gene: rpl11 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.6 GLA Lilian Rudd Classified gene: GLA as Amber List (moderate evidence)
Genomic newborn screening: ICoNS v1.6 GLA Lilian Rudd Added comment: Comment on list classification: Challenge with age of onset variability and when to start treatment
Genomic newborn screening: ICoNS v1.6 GLA Lilian Rudd Gene: gla has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v1.1 BIRC6 chirag patel Marked gene: BIRC6 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v1.1 BIRC6 chirag patel Gene: birc6 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v1.1 BIRC6 chirag patel gene: BIRC6 was added
gene: BIRC6 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BIRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIRC6 were set to 42082826
Phenotypes for gene: BIRC6 were set to Premature ovarian failure, MONDO:0019852, BIRC6-related
Review for gene: BIRC6 was set to RED
Added comment: PMID 42082826 reports 5 affected females from a single consanguineous Iranian family with premature ovarian insufficiency and a homozygous missense variant in BIRC6 (p.Arg3756Cys). The variant segregated in 4 affected females (5th not tested) and in an unaffected male sibling, indicating female‑limited penetrance. Mother was an unaffected carrier. A zebrafish birc6 knockout recapitulates POI‑like reproductive deficits (reduced fecundity, aberrant oocyte morphology, and elevated embryonic death). BIRC6 encodes a large inhibitor of apoptosis (IAP) protein that suppresses programmed cell death by targeting executioner caspases for ubiquitin‑mediated degradation and participates in autophagy and DNA‑damage response.
Sources: Literature
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Marked gene: CYP21A2 as ready
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Classified gene: CYP21A2 as Amber List (moderate evidence)
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Added comment: Comment on list classification: Amber due to complexity of sequencing
Genomic newborn screening: ICoNS v1.5 CYP21A2 Lilian Rudd Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v1.2 SPEN chirag patel Classified gene: SPEN as Amber List (moderate evidence)
Congenital hypothyroidism v1.2 SPEN chirag patel Gene: spen has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v1.1 SPEN chirag patel Marked gene: SPEN as ready
Congenital hypothyroidism v1.1 SPEN chirag patel Gene: spen has been classified as Red List (Low Evidence).
Congenital hypothyroidism v1.1 SPEN chirag patel gene: SPEN was added
gene: SPEN was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: SPEN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEN were set to 42192612
Phenotypes for gene: SPEN were set to Congenital hypothyroidism, MONDO:0018612, SPEN-related
Review for gene: SPEN was set to AMBER
Added comment: 3 individuals from 3 unrelated Chinese families with isolated congenital hypothyroidism. WES identified rare biallelic SPEN variants (p.N1856S, p.E2583Q, p.G2372R, p.P2240L, p.S2306del). They report all variants would be classified as VUS. Unaffected parents confirmed heterozygote carriers in 2 families. Zebrafish spen morpholino knockdown confirmed diminished thyroid hormone synthesis by showing thyroid hypoplasia, significant reductions in total thyroid follicle number, and marked decreases in number of hormone-producing units and T4 immunofluorescence intensity.
Sources: Literature
Genomic newborn screening: ICoNS v1.4 PAH Lilian Rudd Classified gene: PAH as Green List (high evidence)
Genomic newborn screening: ICoNS v1.4 PAH Lilian Rudd Gene: pah has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.3 CD3D Lilian Rudd Classified gene: CD3D as Green List (high evidence)
Genomic newborn screening: ICoNS v1.3 CD3D Lilian Rudd Gene: cd3d has been classified as Green List (High Evidence).
Mendeliome v2.38 PERCC1 chirag patel Marked gene: PERCC1 as ready
Mendeliome v2.38 PERCC1 chirag patel Gene: percc1 has been classified as Green List (High Evidence).
Mendeliome v2.38 PERCC1 chirag patel Classified gene: PERCC1 as Green List (high evidence)
Mendeliome v2.38 PERCC1 chirag patel Gene: percc1 has been classified as Green List (High Evidence).
Mendeliome v2.37 PERCC1 chirag patel gene: PERCC1 was added
gene: PERCC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PERCC1 were set to 41577959; 42110144; 39473069; 36076104; 31217582; 39359949; 40174224
Phenotypes for gene: PERCC1 were set to Congenital diarrhea, MONDO:0000824, PERCC1-related
Review for gene: PERCC1 was set to GREEN
Added comment: 16 individuals from 13 families (6 consanguineous) with biallelic loss-of-function PERCC1 variants causing congenital enteropathy characterised by infancy‑onset intractable diarrhoea, failure to thrive and intestinal failure. Variant types include nonsense and deletions (intragenic and whole gene).

Mouse models showed that targeted deletion of PERCC1 led to reduced body weight and intestinal dysfunction, reversible by PERCC1 transgene insertion. RNA sequencing demonstrated that mice with the disrupted gene had reduced gastrin, somatostatin and ghrelin expression from enteroendocrine cells (EEC), and low serum gastrin implicating
PERCC1 in normal EEC function.
Sources: Literature
Genomic newborn screening: ICoNS v1.2 ALPL Lilian Rudd Classified gene: ALPL as Green List (high evidence)
Genomic newborn screening: ICoNS v1.2 ALPL Lilian Rudd Gene: alpl has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.127 chirag patel Added reviews for gene SPEN from panel Mendeliome
Genomic newborn screening: ICoNS v1.1 ACADVL Lilian Rudd Marked gene: ACADVL as ready
Genomic newborn screening: ICoNS v1.1 ACADVL Lilian Rudd Gene: acadvl has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v1.1 ACADVL Lilian Rudd Classified gene: ACADVL as Green List (high evidence)
Genomic newborn screening: ICoNS v1.1 ACADVL Lilian Rudd Gene: acadvl has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.126 chirag patel Copied gene SPEN from panel Mendeliome
Congenital hypothyroidism v0.126 SPEN chirag patel gene: SPEN was added
gene: SPEN was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SPEN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPEN were set to 33057194; 33596411; 42192612
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, MIM# 619312; Congenital hypothyroidism, MONDO:0018612, SPEN-related
Mendeliome v2.36 SPEN chirag patel Publications for gene: SPEN were set to 33057194; 33596411
Mendeliome v2.35 SPEN chirag patel Phenotypes for gene: SPEN were changed from Radio-Tartaglia syndrome, MIM# 619312 to Radio-Tartaglia syndrome, MIM# 619312; Congenital hypothyroidism, MONDO:0018612, SPEN-related
Mendeliome v2.34 SPEN chirag patel Mode of inheritance for gene: SPEN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.33 SPEN chirag patel reviewed gene: SPEN: Rating: AMBER; Mode of pathogenicity: None; Publications: 42192612; Phenotypes: Congenital hypothyroidism, MONDO:0018612, SPEN-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.33 DOP1A Zornitza Stark Marked gene: DOP1A as ready
Mendeliome v2.33 DOP1A Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence).
Mendeliome v2.33 DOP1A Zornitza Stark Classified gene: DOP1A as Green List (high evidence)
Mendeliome v2.33 DOP1A Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence).
Mendeliome v2.32 DOP1A Zornitza Stark gene: DOP1A was added
gene: DOP1A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DOP1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DOP1A were set to 42164854; 38818041
Phenotypes for gene: DOP1A were set to Neurodevelopmental disorder, MONDO:0700092, DOP1A-related
Review for gene: DOP1A was set to GREEN
Added comment: PMID 42164854 reports five individuals from five families with de novo heterozygous loss‑of‑function or missense DOP1A variants causing a dominant neurodevelopmental disorder characterised by intellectual disability, developmental delay, seizures and autism.
PMID 42164854 also reports two families with homozygous variants, adding to the one previously described in PMID 38818041presenting with a recessive neurodevelopmental disorder that includes intellectual disability, developmental delay, seizures, brain malformations, ataxia, spasticity and nystagmus.

Extensive functional data including DOP1A knock‑down in Neuro2a cells which demonstrates increased nuclear phospholipids and lipid droplets; and a mouse knockout which recapitulates neuronal overgrowth, CDK2 nuclear accumulation and behavioural deficits.
Sources: Literature
Congenital hypothyroidism v0.125 Rylee Peters Added reviews for gene DTX2 from panel Mendeliome
Muscular dystrophy and myopathy_Paediatric v1.123 Sangavi Sivagnanasundram Copied gene MCUR1 from panel Mendeliome
Muscular dystrophy and myopathy_Paediatric v1.123 MCUR1 Sangavi Sivagnanasundram gene: MCUR1 was added
gene: MCUR1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MCUR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCUR1 were set to 42087238
Phenotypes for gene: MCUR1 were set to MCUR1-related neuromuscular disorder MONDO:0100546
Mendeliome v2.31 SPEN chirag patel Phenotypes for gene: SPEN were changed from Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312
Intellectual disability syndromic and non-syndromic v2.2 SPEN chirag patel Phenotypes for gene: SPEN were changed from Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312
Congenital hypothyroidism v0.124 Rylee Peters Added reviews for gene DTX2 from panel Mendeliome
Autism v1.1 DSCAM chirag patel Classified gene: DSCAM as Amber List (moderate evidence)
Autism v1.1 DSCAM chirag patel Gene: dscam has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.260 chirag patel Copied gene DSCAM from panel Mendeliome
Syndromic Retinopathy v0.260 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Syndromic Retinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSCAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561; 34253863; 32807774; 21904980; 28191889; 27824329; 30095639; 23671607
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Intellectual disability syndromic and non-syndromic v1.833 chirag patel Added reviews for gene DSCAM from panel Mendeliome
Genetic Epilepsy v1.436 chirag patel Copied gene DSCAM from panel Mendeliome
Genetic Epilepsy v1.436 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSCAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561; 34253863; 32807774; 21904980; 28191889; 27824329; 30095639; 23671607
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.30 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.29 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.29 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.28 DSCAM chirag patel Phenotypes for gene: DSCAM were changed from Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Mendeliome v2.27 DSCAM chirag patel Publications for gene: DSCAM were set to 34253863; 32807774; 28600779; 21904980; 28191889; 27824329; 30095639; 23671607
Mendeliome v2.26 DSCAM chirag patel Mode of inheritance for gene: DSCAM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v2.25 DSCAM chirag patel reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 42063257, 28600779, 33170561; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v1.1 DSCAM chirag patel Marked gene: DSCAM as ready
Callosome v1.1 DSCAM chirag patel Gene: dscam has been classified as Red List (Low Evidence).
Callosome v1.1 DSCAM chirag patel Classified gene: DSCAM as Red List (low evidence)
Callosome v1.1 DSCAM chirag patel Gene: dscam has been classified as Red List (Low Evidence).
Callosome v1.0 DSCAM chirag patel reviewed gene: DSCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v2.25 MCUR1 Sangavi Sivagnanasundram gene: MCUR1 was added
gene: MCUR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCUR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCUR1 were set to 42087238
Phenotypes for gene: MCUR1 were set to MCUR1-related neuromuscular disorder MONDO:0100546
Review for gene: MCUR1 was set to RED
Added comment: PMID 42087238: One individual from consanguineous parents presenting with mild proximal muscle weakness and atrophy in lower limbs.
Homozygous variant was identified - c.802C>T(R268Ter) - Present in gnomAD v4.1 (MID popmax AF 0.0826%)
Patient fibroblasts lack MCUR1 protein and show reduced mitochondrial Ca2+ uptake, decreased ATP production and increased autophagic flux, supporting a mitochondrial myopathy. No additional families have been described.

No pathogenic variants have been reported in this gene. LoF is not an established mechanism of disease either. gnomAD v4.1 pLI = 0; o/e = 0.88 (0.68 - 1.16).
As of this review, there is no ClinGen review or Morbid entry in OMIM for this gene-disease association.
Sources: Literature
Mendeliome v2.24 SIT1 chirag patel Classified gene: SIT1 as Red List (low evidence)
Mendeliome v2.24 SIT1 chirag patel Gene: sit1 has been classified as Red List (Low Evidence).
Mendeliome v2.23 SIT1 chirag patel reviewed gene: SIT1: Rating: RED; Mode of pathogenicity: None; Publications: 42128181; Phenotypes: Inborn error of immunity, MONDO:0003778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v2.1 SIT1 chirag patel Classified gene: SIT1 as Red List (low evidence)
Combined Immunodeficiency v2.1 SIT1 chirag patel Gene: sit1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v2.0 SIT1 chirag patel reviewed gene: SIT1: Rating: RED; Mode of pathogenicity: None; Publications: 42128181; Phenotypes: Inborn error of immunity, MONDO:0003778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.23 NRXN1 Teresa Zhao reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30031152, 30873608; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.422 chirag patel Copied gene BIRC6 from panel Mendeliome
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.422 BIRC6 chirag patel gene: BIRC6 was added
gene: BIRC6 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert Review Red,Literature
Mode of inheritance for gene: BIRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIRC6 were set to 42082826
Phenotypes for gene: BIRC6 were set to Premature ovarian failure, MONDO:0019852, BIRC6-related
Mendeliome v2.23 BIRC6 chirag patel Marked gene: BIRC6 as ready
Mendeliome v2.23 BIRC6 chirag patel Gene: birc6 has been classified as Red List (Low Evidence).
Mendeliome v2.23 BIRC6 chirag patel gene: BIRC6 was added
gene: BIRC6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BIRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIRC6 were set to 42082826
Phenotypes for gene: BIRC6 were set to Premature ovarian failure, MONDO:0019852, BIRC6-related
Review for gene: BIRC6 was set to RED
Added comment: PMID 42082826 reports 5 affected females from a single consanguineous Iranian family with premature ovarian insufficiency and a homozygous missense variant in BIRC6 (p.Arg3756Cys). The variant segregated in 4 affected females (5th not tested) and in an unaffected male sibling, indicating female‑limited penetrance. Mother was an unaffected carrier. A zebrafish birc6 knockout recapitulates POI‑like reproductive deficits (reduced fecundity, aberrant oocyte morphology, and elevated embryonic death). BIRC6 encodes a large inhibitor of apoptosis (IAP) protein that suppresses programmed cell death by targeting executioner caspases for ubiquitin‑mediated degradation and participates in autophagy and DNA‑damage response.
Sources: Literature
Congenital Diarrhoea v2.2 PERCC1 chirag patel Marked gene: PERCC1 as ready
Congenital Diarrhoea v2.2 PERCC1 chirag patel Gene: percc1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v2.2 PERCC1 chirag patel Classified gene: PERCC1 as Green List (high evidence)
Congenital Diarrhoea v2.2 PERCC1 chirag patel Gene: percc1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v2.1 PERCC1 chirag patel gene: PERCC1 was added
gene: PERCC1 was added to Congenital Diarrhoea. Sources: Literature
Mode of inheritance for gene: PERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PERCC1 were set to 41577959; 42110144; 39473069; 36076104; 31217582; 39359949; 40174224
Phenotypes for gene: PERCC1 were set to Congenital diarrhea, MONDO:0000824, PERCC1-related
Review for gene: PERCC1 was set to GREEN
Added comment: 16 individuals from 13 families (6 consanguineous) with biallelic loss-of-function PERCC1 variants causing congenital enteropathy characterised by infancy‑onset intractable diarrhoea, failure to thrive and intestinal failure. Variant types include nonsense and deletions (intragenic and whole gene).

Mouse models showed that targeted deletion of PERCC1 led to reduced body weight and intestinal dysfunction, reversible by PERCC1 transgene insertion. RNA sequencing demonstrated that mice with the disrupted gene had reduced gastrin, somatostatin and ghrelin expression from enteroendocrine cells (EEC), and low serum gastrin implicating
PERCC1 in normal EEC function.
Sources: Literature
Regression v1.1 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 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)
Mendeliome v2.22 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from Neurodegeneration with brain iron accumulation 5 300894; Rett syndrome; Rett-like phenotypes to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes
Mendeliome v2.21 WDR45 Zornitza Stark Publications for gene: WDR45 were set to 30842224
Mendeliome v2.20 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v2.1 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v2.0 WDR45 Zornitza Stark edited their review of gene: WDR45: Changed phenotypes: Neurodegeneration with brain iron accumulation 5, MIM# 300894; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Incidentalome v1.2 RNF43 Zornitza Stark Marked gene: RNF43 as ready
Incidentalome v1.2 RNF43 Zornitza Stark Gene: rnf43 has been classified as Green List (High Evidence).
Incidentalome v1.2 RNF43 Zornitza Stark Phenotypes for gene: RNF43 were changed from Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Sessile serrated polyposis cancer syndrome, MONDO:0014919; Sessile serrated polyposis cancer syndrome, MIM#617108 to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Sessile serrated polyposis cancer syndrome, MONDO:0014919; Sessile serrated polyposis cancer syndrome, MIM#617108; Hereditary haemochromatosis, MONDO:0006507, RNF43-related
Incidentalome v1.1 RNF43 Zornitza Stark Publications for gene: RNF43 were set to PMID: 24512911, 34541672, 27329244, 27081527, 29330307
Incidentalome v1.0 RNF43 Zornitza Stark reviewed gene: RNF43: Rating: RED; Mode of pathogenicity: None; Publications: 41024252; Phenotypes: Hereditary haemochromatosis, MONDO:0006507, RNF43-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v1.1 RNF43 Zornitza Stark Marked gene: RNF43 as ready
Metal Metabolism Disorders v1.1 RNF43 Zornitza Stark Gene: rnf43 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v1.1 RNF43 Zornitza Stark gene: RNF43 was added
gene: RNF43 was added to Metal Metabolism Disorders. Sources: Literature
founder tags were added to gene: RNF43.
Mode of inheritance for gene: RNF43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF43 were set to 41024252
Phenotypes for gene: RNF43 were set to Hereditary haemochromatosis, MONDO:0006507, RNF43-related
Review for gene: RNF43 was set to RED
Added comment: PMID 41024252 reports 15 individuals from 13 families with a homozygous LoF RNF43 variant c.1403C>G (p.Ser468*) presenting as hereditary haemochromatosis, adult‑onset iron overload. Founder variant. No other supportive data.
Sources: Literature
Autoinflammatory Disorders v3.1 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to 21129723; 21881205; 21852578; 21953331; 40666351; https://dx.doi.org/10.2139/ssrn.5370606
Autoinflammatory Disorders v3.0 PSMB8 Zornitza Stark edited their review of gene: PSMB8: Added comment: Preprints describing mono-allelic association now published. PMID 42167218 describes five families with monoallelic missense PSMB8 variants and PMID 41253591 adds eight families with the recurrent heterozygous p.G209R variant, together totalling 13 families with dominant‑negative disruption of immunoproteasome assembly.; Changed publications: 21129723, 21881205, 21852578, 21953331, 42167218, 41253591; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.19 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to 21129723; 21881205; 21852578; 21953331; 40666351; https://dx.doi.org/10.2139/ssrn.5370606
Mendeliome v2.18 PSMB8 Zornitza Stark edited their review of gene: PSMB8: Added comment: Preprints describing mono-allelic association now published. PMID 42167218 describes five families with monoallelic missense PSMB8 variants and PMID 41253591 adds eight families with the recurrent heterozygous p.G209R variant, together totalling 13 families with dominant‑negative disruption of immunoproteasome assembly.; Changed publications: 21129723, 21881205, 21852578, 21953331, 42167218, 41253591; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v2.0 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Defects of intrinsic and innate immunity v2.0 POLR3A Zornitza Stark Gene: polr3a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v2.2 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v2.1 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v2.1 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v2.0 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.18 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.17 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infertility and Recurrent Pregnancy Loss v2.1 ADGRG2 Zornitza Stark Marked gene: ADGRG2 as ready
Infertility and Recurrent Pregnancy Loss v2.1 ADGRG2 Zornitza Stark Gene: adgrg2 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v2.1 ADGRG2 Zornitza Stark Mode of inheritance for gene: ADGRG2 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v2.17 ADGRG2 Zornitza Stark Mode of inheritance for gene: ADGRG2 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v2.1 SNORD116-1 Boris Keren gene: SNORD116-1 was added
gene: SNORD116-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SNORD116-1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNORD116-1 were set to PMID: 24916642
Phenotypes for gene: SNORD116-1 were set to Intellectual disability, obesity, hypotonia
Penetrance for gene: SNORD116-1 were set to Complete
Mode of pathogenicity for gene: SNORD116-1 was set to Other
Review for gene: SNORD116-1 was set to GREEN
gene: SNORD116-1 was marked as current diagnostic
Added comment: The paternal deletion of the SNORD166 cluster is the critical region of Prader Willi syndrome.
Sources: Literature
Congenital hypothyroidism v0.123 Rylee Peters Added reviews for gene DTX2 from panel Mendeliome
Congenital hypothyroidism v0.122 Rylee Peters Copied gene DTX2 from panel Mendeliome
Congenital hypothyroidism v0.122 DTX2 Rylee Peters gene: DTX2 was added
gene: DTX2 was added to Congenital hypothyroidism. Sources: Expert Review Red,Literature
Mode of inheritance for gene: DTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTX2 were set to 42192612
Phenotypes for gene: DTX2 were set to Congenital hypothyroidism, MONDO:0018612, DTX2-related
Mendeliome v2.16 DTX2 Rylee Peters Marked gene: DTX2 as ready
Mendeliome v2.16 DTX2 Rylee Peters Gene: dtx2 has been classified as Red List (Low Evidence).
Mendeliome v2.16 DTX2 Rylee Peters gene: DTX2 was added
gene: DTX2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTX2 were set to 42192612
Phenotypes for gene: DTX2 were set to Congenital hypothyroidism, MONDO:0018612, DTX2-related
Review for gene: DTX2 was set to RED
Added comment: PMID: 42192612 reports 1 individual from 1 family with biallelic missense DTX2 variants (variants not phased/segregated) presenting with congenital hypothyroidism, isolated thyroid dysfunction, childhood‑onset. Zebrafish morpholino knockdown of dtx2 caused thyroid hypoplasia and reduced T4.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v2.3 HRAS Rylee Peters Phenotypes for gene: HRAS were changed from Congenital myopathy with excess of muscle spindles (MIM#218040) to Congenital myopathy with excess of muscle spindles (MIM#218040); Costello syndrome, congenital myopathy with excess of muscle spindles type (MIM#218040)
Muscular dystrophy and myopathy_Paediatric v2.2 HRAS Rylee Peters Deleted their comment
Muscular dystrophy and myopathy_Paediatric v2.2 HRAS Rylee Peters Classified gene: HRAS as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v2.2 HRAS Rylee Peters Gene: hras has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v2.1 HRAS Rylee Peters Added comment: Comment on phenotypes: Congenital myopathy with excess of muscle spindles (MIM#218040); Costello syndrome, congenital myopathy with excess of muscle spindles type (MIM#218040)
Muscular dystrophy and myopathy_Paediatric v2.1 HRAS Rylee Peters Phenotypes for gene: HRAS were changed from Congenital myopathy with excess of muscle spindles (MIM#218040) to Congenital myopathy with excess of muscle spindles (MIM#218040)
Muscular dystrophy and myopathy_Paediatric v2.0 HRAS Rylee Peters reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, congenital myopathy with excess of muscle spindles type (MIM#218040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infertility and Recurrent Pregnancy Loss v1.181 Lucy Spencer Copied gene ACTRT1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.181 ACTRT1 Lucy Spencer gene: ACTRT1 was added
gene: ACTRT1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: ACTRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ACTRT1 were set to 34422805; 39267058; 33972689; 28869610
Phenotypes for gene: ACTRT1 were set to Infertility disorder, MONDO:0005047, ACTRT1-related; Bazex-Dupre-Christol syndrome MONDO:0010535, ACTRT1-related
Mendeliome v2.15 ACTRT1 Lucy Spencer gene: ACTRT1 was added
gene: ACTRT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACTRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ACTRT1 were set to 34422805; 39267058; 33972689; 28869610
Phenotypes for gene: ACTRT1 were set to Infertility disorder, MONDO:0005047, ACTRT1-related; Bazex-Dupre-Christol syndrome MONDO:0010535, ACTRT1-related
Review for gene: ACTRT1 was set to RED
Added comment: PMID: 28869610 p.Met183Asnfs*17 in ACTRT identified in 2 families with Bazex–Dupré–Christol syndrome (BDCS) - congenital hypotrichosis, follicular atrophoderma, and predisposition to basal cell carcinoma. This variant is very common in gnomad with thousands of hets, over 900 hemizygotes and 6 homozygotes. 4 other families with BDCS were also investigated but only non-coding variants in far upstream/downstream regions were identified. These regions were postulated to be enhancers and the variants were shown to impair the enhancers activity and ACTRT1 expression.

PMID: 33972689 no new patients but provides further functional support for ACTRT1 and the p.Met183Asnfs*17 variant’s role in BDCS.

Bazex-Dupre-Christol syndrome MONDO:0010535, ACTRT1-related - RED

PMID: 34422805 Identified ACTRT1 missense variants in two individuals with acephalic spermatozoa. Arg32His has 5 hemizygotes in gnomad while Tyr221Cys is absent. Both variants were maternally inherited. ACTRT1 knockout mice showed acephalic spermatozoa.

PMID: 39267058 Identified Val57Met in a male with oligoasthenoteratozoospermia. This variant has 10 hemizygotes in gnomad

Infertility disorder, MONDO:0005047, ACTRT1-related - RED/AMBER
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.832 Lucy Spencer Copied gene HDAC2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.832 HDAC2 Lucy Spencer gene: HDAC2 was added
gene: HDAC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC2 were set to 30806031; 27620904; 38753158
Phenotypes for gene: HDAC2 were set to Neurodevelopmental disorder (MONDO:0700092), HDAC2-related
Mendeliome v2.14 HDAC2 Lucy Spencer Classified gene: HDAC2 as Green List (high evidence)
Mendeliome v2.14 HDAC2 Lucy Spencer Gene: hdac2 has been classified as Green List (High Evidence).
Mendeliome v2.13 HDAC2 Lucy Spencer gene: HDAC2 was added
gene: HDAC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC2 were set to 30806031; 27620904; 38753158
Phenotypes for gene: HDAC2 were set to Neurodevelopmental disorder (MONDO:0700092), HDAC2-related
Review for gene: HDAC2 was set to GREEN
Added comment: PMID: 27620904 In a large syndromic ID cohort one de novo missense in HDAC2 was identified Gly28Asp (filtered out in gnomad). This individual is also present in DECIPHER where the phenotype listed are: hypotonia, autistic behaviour, delayed speech and language development, developmental regression, hyperactivity, intellectual disability, motor stereotypy, and symptomatic seizures.

PMID: 30806031 Met31Ile identified as de novo in an individual with a phenotype resembling Cornelia de Lange syndrome - severe developmental delay, limb abnormalities, congenital heart defect, cryptorchidism and hypoplastic genitalia, growth retardation, and characteristic craniofacial features. The variant is absent from gnomad. This individual also had a 5.6Mb copy number gain at 15q11.2q13.1 which is associated with a developmental disorder.

PMID: 38753158 An individual clinically diagnosed with Rubenstein Tabi syndrome who had negative genetic testing for known RSTS genes. Phenotype included ID, growth and motor delay, dysmorphisms (synophrys, prominent columella, short philtrum, high nasal root, abnormal ears with prominent antihelix), broad halluces, speech delay, feeding problems and recurrent infections, vertebral anomalies, hypoplasia of corpus callosum, hypermetropia and early puberty. Identified a de novo frameshift p.(K444Lfs*61) in HDAC2 which is an elongation variant. This variant is absent from gnomad but other elongation variants are present with 4-13 hets. The variant was predicted to disrupt the NLS and studies in transfected cells showed protein mislocalisation. HDAC2 protein abundance was also reduced in patient cells, and patient cells showed similar differentially expressed genes to RSTS patients.

The two missense are near each other and are present at or near annotated binding sites in DECIPHER, both very well conserved residues and one of the paper described this region as needed for the catalytic activity of the deacetylase. Borderline amber/green due to lack of functional evidence for the missense variants and the presence of other elongation variants in gnomad (however it is unclear if they also affect the NLS).
Sources: Literature
Mendeliome v2.12 HECW2 Sangavi Sivagnanasundram changed review comment from: Classified as MODERATE by ClinGen ID and Autism GCEP on 22/04/2026 - https://search.clinicalgenome.org/CCID:005049

PMID: 40812465 - additional proband from consanguineous family of Afghani descent presenting with evere microcephaly, hypotonia, failure to thrive, recurrent seizures, global neurodevelopmental delay, and brain MRI findings of significant cerebral and cerebellar atrophy. Homozygous frameshift variant identified (c.3601_3602insT, p.Y1201Lfs∗7) - variant is absent from gnomAD v4.1.; to: Classified as MODERATE by ClinGen ID and Autism GCEP on 22/04/2026 - https://search.clinicalgenome.org/CCID:005049

PMID: 40812465 - additional proband from consanguineous family of Afghani descent presenting with severe microcephaly, hypotonia, failure to thrive, recurrent seizures, global neurodevelopmental delay, and brain MRI findings of significant cerebral and cerebellar atrophy. Homozygous frameshift variant identified (c.3601_3602insT, p.Y1201Lfs∗7) - variant is absent from gnomAD v4.1.
Mendeliome v2.12 HECW2 Sangavi Sivagnanasundram Phenotypes for gene: HECW2 were changed from Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268; intellectual disability; epilepsy; regression; microcephaly to complex neurodevelopmental disorder MONDO:0100038
Mendeliome v2.11 HECW2 Sangavi Sivagnanasundram Publications for gene: HECW2 were set to 29807643; 29395664; 27334371; 27389779
Hydrocephalus_Ventriculomegaly v1.3 FANCA Krithika Murali Marked gene: FANCA as ready
Hydrocephalus_Ventriculomegaly v1.3 FANCA Krithika Murali Gene: fanca has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v1.3 FANCA Krithika Murali Classified gene: FANCA as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v1.3 FANCA Krithika Murali Gene: fanca has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v1.2 FANCA Krithika Murali gene: FANCA was added
gene: FANCA was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCA were set to PMID: 23653579
Phenotypes for gene: FANCA were set to Fanconi anaemia complementation group A - MONDO:0009215
Review for gene: FANCA was set to GREEN
Added comment: FANCA also associated with hydrocephalus (PMID:23653579). Note internal case of prenatal presentation with hydrocephalus as the primary presenting feature with additional anomalies noted on serial imaging, secondary to FANCA.

PMID:23653579 - other Fanconi anaemia genes also associated with VACTERL-H spectrum.
Sources: Literature
Mendeliome v2.10 RARS1 Sangavi Sivagnanasundram Phenotypes for gene: RARS1 were changed from Leukodystrophy, hypomyelinating, 9 MIM# 616140 to hypomyelinating leukodystrophy 9 MONDO:0014506; Leukodystrophy, hypomyelinating, 9 MIM# 616140
Mendeliome v2.9 RARS1 Sangavi Sivagnanasundram Publications for gene: RARS1 were set to 31814314
Mendeliome v2.8 RARS1 Sangavi Sivagnanasundram reviewed gene: RARS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33515434; Phenotypes: hypomyelinating leukodystrophy 9 MONDO:0014506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 STT3B Sangavi Sivagnanasundram changed review comment from: Classified as LIMITED by ClinGen Congenital Disorders of Glycoylation GCEP - https://search.clinicalgenome.org/CCID:009271; to: Classified as LIMITED by ClinGen Congenital Disorders of Glycosylation GCEP - https://search.clinicalgenome.org/CCID:009271
Mendeliome v2.8 STT3B Sangavi Sivagnanasundram reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital disorder of glycosylation MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 CFAP43 Sangavi Sivagnanasundram reviewed gene: CFAP43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: spermatogenic failure 19 MONDO:0054723, primary ciliary dyskinesia MONDO:0016575, normal pressure hydrocephalus MONDO:0009366; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v1.1 CFAP43 Sangavi Sivagnanasundram gene: CFAP43 was added
gene: CFAP43 was added to Hydrocephalus_Ventriculomegaly. Sources: ClinGen
disputed tags were added to gene: CFAP43.
Mode of inheritance for gene: CFAP43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CFAP43 were set to normal pressure hydrocephalus MONDO:0009366
Review for gene: CFAP43 was set to RED
Added comment: DISPUTED by ClinGen Motile Ciliopathy GCEP on 09/04/2026 https://search.clinicalgenome.org/CCID:004426
Sources: ClinGen
Ciliary Dyskinesia v2.0 CFAP43 Sangavi Sivagnanasundram reviewed gene: CFAP43: Rating: RED; Mode of pathogenicity: None; Publications: 41341611; Phenotypes: primary ciliary dyskinesia MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v2.0 CFAP43 Sangavi Sivagnanasundram Tag disputed was removed from gene: CFAP43.
Mendeliome v2.8 SCO2 Sangavi Sivagnanasundram reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 PDE1C Sangavi Sivagnanasundram reviewed gene: PDE1C: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.8 HECW2 Sangavi Sivagnanasundram reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40812465; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 CST3 Sangavi Sivagnanasundram reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy MONDO:0979226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.8 PCK1 Sangavi Sivagnanasundram reviewed gene: PCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28216384, 34622459; Phenotypes: phosphoenolpyruvate carboxykinase deficiency, cytosolic MONDO:0009866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 MOCS3 Sangavi Sivagnanasundram reviewed gene: MOCS3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 MONDO:0980701; Mode of inheritance: None
Mendeliome v2.8 GATM Sangavi Sivagnanasundram changed review comment from: AD association - Classified as MODERATE by ClinGen Tubulopathy GCEp on 30/04/2026: https://search.clinicalgenome.org/CCID:009288

AR association - Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 08/03/2019 - https://search.clinicalgenome.org/CCID:004930; to: AD association - Classified as MODERATE by ClinGen Tubulopathy GCEP on 30/04/2026: https://search.clinicalgenome.org/CCID:009288

AR association - Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 08/03/2019 - https://search.clinicalgenome.org/CCID:004930
Mendeliome v2.8 GATM Sangavi Sivagnanasundram reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: AGAT deficiency MONDO:0012996, Fanconi renotubular syndrome 1 MONDO:0024525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.8 TRA2B Sangavi Sivagnanasundram reviewed gene: TRA2B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: syndromic complex neurodevelopmental disorder MONDO:0800439; Mode of inheritance: None
Mendeliome v2.8 DNAH10 Sangavi Sivagnanasundram reviewed gene: DNAH10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: spermatogenic failure 56 MONDO:0030430, primary ciliary dyskinesia MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.8 TMEM163 Sangavi Sivagnanasundram Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy, MONDO:0019046 to leukodystrophy, hypomyelinating, 25 MONDO:0859378
Mendeliome v2.7 TMEM163 Sangavi Sivagnanasundram Publications for gene: TMEM163 were set to PMID: 35953447
Mendeliome v2.6 TMEM163 Sangavi Sivagnanasundram reviewed gene: TMEM163: Rating: GREEN; Mode of pathogenicity: None; Publications: 35455965, 35953447; Phenotypes: leukodystrophy, hypomyelinating, 25 MONDO:0859378; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.6 GSX2 Sangavi Sivagnanasundram commented on gene: GSX2: Classified as MODERATE by ClinGen Cerebral Palsy GCEP on 18/05/2026 - https://search.clinicalgenome.org/CCID:005018
Mendeliome v2.6 DENND5B Sangavi Sivagnanasundram reviewed gene: DENND5B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.6 RHOH Sangavi Sivagnanasundram Phenotypes for gene: RHOH were changed from {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 to epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666
Mendeliome v2.5 RHOH Sangavi Sivagnanasundram reviewed gene: RHOH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.5 PTCRA Sangavi Sivagnanasundram Phenotypes for gene: PTCRA were changed from Immunodeficiency 126, MIM# 620931 to immunodeficiency 126, susceptibility to MONDO:0975761
Mendeliome v2.4 PTCRA Sangavi Sivagnanasundram Publications for gene: PTCRA were set to 38422122
Mendeliome v2.3 PTCRA Sangavi Sivagnanasundram reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 38422122, 39805825; Phenotypes: immunodeficiency 126, susceptibility to MONDO:0975761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.3 ZBTB18 Sangavi Sivagnanasundram Phenotypes for gene: ZBTB18 were changed from Mental retardation, autosomal dominant 22, MIM# 612337 to complex neurodevelopmental disorder MONDO:0100038
Mendeliome v2.2 ZBTB18 Sangavi Sivagnanasundram Publications for gene: ZBTB18 were set to 27598823; 29573576
Mendeliome v2.1 ZBTB18 Sangavi Sivagnanasundram reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 31112317; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.1 KCNJ11 Sangavi Sivagnanasundram reviewed gene: KCNJ11: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: monogenic diabetes MONDO:0015967, hyperinsulinemic hypoglycemia, familial, 2 MONDO:0011153; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.1 GCK Sangavi Sivagnanasundram changed review comment from: Classified as DEFINITIVE by ClinGen Monogenic Diabetes VCEP on 02/06/2026 - https://search.clinicalgenome.org/CCID:009345; to: Classified as DEFINITIVE by ClinGen Monogenic Diabetes VCEP on 02/06/2026 - https://search.clinicalgenome.org/CCID:009345

Mechanism of disease is LoF.
Mendeliome v2.1 GCK Sangavi Sivagnanasundram reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: monogenic diabetes MONDO:0015967; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.1 UFM1 Sangavi Sivagnanasundram reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35189806; Phenotypes: leukodystrophy, hypomyelinating, 14 MONDO:0033486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.1 STN1 Sangavi Sivagnanasundram reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27432940, 34110109, 32627942; Phenotypes: cerebroretinal microangiopathy with calcifications and cysts 2 MONDO:0015026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v1.47 Sangavi Sivagnanasundram Added reviews for gene NCKAP1L from panel Mendeliome
Autoinflammatory Disorders v2.48 Sangavi Sivagnanasundram Added reviews for gene NCKAP1L from panel Mendeliome
Mendeliome v2.1 NCKAP1L Sangavi Sivagnanasundram reviewed gene: NCKAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: immunodeficiency 72 with autoinflammation MONDO:0033551; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.1 PTBP1 Lucy Spencer changed review comment from: PMID: 40965981 27 individuals with abnormal prenatal ultrasound in thirteen (48%) including short femora, IUGR, hydramnios, increased nuchal translucency, asymmetry of heart cavities, and bilateral hydronephrosis. Skeletal anomalies were seen in 24 (89%), short stature/limbs in 63%, facial dysmorphism 25 (93%), developmental delay in 78%, behavioral problems in 30% and ID in 26% generally mild/moderate, 43% had variable brain MRI abnormalities. additional features included skin, nail, and hair anomalies (52%), dental anomalies (37%), ophthalmological findings (44%), and cardiovascular defects (22%).

Variants a mix of missense and startloss, and were confirmed de novo in 23/17 cases.

Various functional studies showed reduced nuclear localization and enhanced cytoplasmic retention, with start-loss
variants also leading to increased protein stability.; to: PMID: 40965981 27 individuals with abnormal prenatal ultrasound in thirteen (48%) including short femora, IUGR, hydramnios, increased nuchal translucency, asymmetry of heart cavities, and bilateral hydronephrosis. Skeletal anomalies were seen in 24 (89%), short stature/limbs in 63%, facial dysmorphism 25 (93%), developmental delay in 78%, behavioral problems in 30% and ID in 26% generally mild/moderate, 43% had variable brain MRI abnormalities. additional features included skin, nail, and hair anomalies (52%), dental anomalies (37%), ophthalmological findings (44%), and cardiovascular defects (22%).

Variants a mix of missense and startloss, and were confirmed de novo in 23/27 cases.

Various functional studies showed reduced nuclear localization and enhanced cytoplasmic retention, with start-loss
variants also leading to increased protein stability.
Intellectual disability syndromic and non-syndromic v2.1 SNX27 Zornitza Stark Phenotypes for gene: SNX27 were changed from Neurodevelopmental disorder MONDO:0700092, SNX27-related to Damseh-Danson neurodevelopmental disorder, MIM# 621591
Intellectual disability syndromic and non-syndromic v2.0 SNX27 Zornitza Stark edited their review of gene: SNX27: Changed phenotypes: Damseh-Danson neurodevelopmental disorder, MIM# 621591
Genetic Epilepsy v2.1 SNX27 Zornitza Stark Phenotypes for gene: SNX27 were changed from Neurodevelopmental disorder MONDO:0700092, SNX27-related to Damseh-Danson neurodevelopmental disorder, MIM# 621591
Genetic Epilepsy v2.0 SNX27 Zornitza Stark edited their review of gene: SNX27: Changed phenotypes: Damseh-Danson neurodevelopmental disorder, MIM# 621591
Mendeliome v2.1 SNX27 Zornitza Stark Phenotypes for gene: SNX27 were changed from Neurodevelopmental disorder MONDO:0700092, SNX27-related to Damseh-Danson neurodevelopmental disorder, MIM# 621591
Mendeliome v2.0 SNX27 Zornitza Stark edited their review of gene: SNX27: Changed phenotypes: Damseh-Danson neurodevelopmental disorder, MIM# 621591
Hyperparathyroidism v1.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Hyperparathyroidism v1.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Hyperparathyroidism v1.0 GCM2 Gene migrated from ENSG00000124827 to ENSG00000124827 (gene set migration)
Hyperparathyroidism v1.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Hyperparathyroidism v1.0 CDC73 Gene migrated from ENSG00000134371 to ENSG00000134371 (gene set migration)
Hyperparathyroidism v1.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Hyperparathyroidism v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.12
Familial hypocalciuric hypercalcaemia v1.0 GNA11 Gene migrated from ENSG00000088256 to ENSG00000088256 (gene set migration)
Familial hypocalciuric hypercalcaemia v1.0 AP2S1 Gene migrated from ENSG00000042753 to ENSG00000042753 (gene set migration)
Familial hypocalciuric hypercalcaemia v1.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Familial hypocalciuric hypercalcaemia v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.7
Adrenal insufficiency v1.0 GFER Gene migrated from ENSG00000127554 to ENSG00000127554 (gene set migration)
Adrenal insufficiency v1.0 GPR161 Gene migrated from ENSG00000143147 to ENSG00000143147 (gene set migration)
Adrenal insufficiency v1.0 TEDC1 Gene symbol changed from C14orf80 to TEDC1 during gene set migration (ENSG00000185347 -> ENSG00000185347)
Adrenal insufficiency v1.0 SIX3 Gene migrated from ENSG00000138083 to ENSG00000138083 (gene set migration)
Adrenal insufficiency v1.0 RAX Gene migrated from ENSG00000134438 to ENSG00000134438 (gene set migration)
Adrenal insufficiency v1.0 WNT4 Gene migrated from ENSG00000162552 to ENSG00000162552 (gene set migration)
Adrenal insufficiency v1.0 CDON Gene migrated from ENSG00000064309 to ENSG00000064309 (gene set migration)
Adrenal insufficiency v1.0 ESRP2 Gene migrated from ENSG00000103067 to ENSG00000103067 (gene set migration)
Adrenal insufficiency v1.0 ARNT2 Gene migrated from ENSG00000172379 to ENSG00000172379 (gene set migration)
Adrenal insufficiency v1.0 MCM4 Gene migrated from ENSG00000104738 to ENSG00000104738 (gene set migration)
Adrenal insufficiency v1.0 IARS2 Gene migrated from ENSG00000067704 to ENSG00000067704 (gene set migration)
Adrenal insufficiency v1.0 TGIF1 Gene migrated from ENSG00000177426 to ENSG00000177426 (gene set migration)
Adrenal insufficiency v1.0 SHH Gene migrated from ENSG00000164690 to ENSG00000164690 (gene set migration)
Adrenal insufficiency v1.0 RBM28 Gene migrated from ENSG00000106344 to ENSG00000106344 (gene set migration)
Adrenal insufficiency v1.0 MRAP Gene migrated from ENSG00000170262 to ENSG00000170262 (gene set migration)
Adrenal insufficiency v1.0 MC2R Gene migrated from ENSG00000185231 to ENSG00000185231 (gene set migration)
Adrenal insufficiency v1.0 ZRSR2 Gene migrated from ENSG00000169249 to ENSG00000169249 (gene set migration)
Adrenal insufficiency v1.0 TBX19 Gene migrated from ENSG00000143178 to ENSG00000143178 (gene set migration)
Adrenal insufficiency v1.0 TBC1D32 Gene migrated from ENSG00000146350 to ENSG00000146350 (gene set migration)
Adrenal insufficiency v1.0 SOX3 Gene migrated from ENSG00000134595 to ENSG00000134595 (gene set migration)
Adrenal insufficiency v1.0 HESX1 Gene migrated from ENSG00000163666 to ENSG00000163666 (gene set migration)
Adrenal insufficiency v1.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Adrenal insufficiency v1.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Adrenal insufficiency v1.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Adrenal insufficiency v1.0 HID1 Gene migrated from ENSG00000167861 to ENSG00000167861 (gene set migration)
Adrenal insufficiency v1.0 GLI3 Gene migrated from ENSG00000106571 to ENSG00000106571 (gene set migration)
Adrenal insufficiency v1.0 HSD3B2 Gene migrated from ENSG00000203859 to ENSG00000203859 (gene set migration)
Adrenal insufficiency v1.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Adrenal insufficiency v1.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Adrenal insufficiency v1.0 CYP11B1 Gene migrated from ENSG00000160882 to ENSG00000160882 (gene set migration)
Adrenal insufficiency v1.0 CYP11A1 Gene migrated from ENSG00000140459 to ENSG00000140459 (gene set migration)
Adrenal insufficiency v1.0 CDKN1C Gene migrated from ENSG00000129757 to ENSG00000129757 (gene set migration)
Adrenal insufficiency v1.0 LHX4 Gene migrated from ENSG00000121454 to ENSG00000121454 (gene set migration)
Adrenal insufficiency v1.0 AAAS Gene migrated from ENSG00000094914 to ENSG00000094914 (gene set migration)
Adrenal insufficiency v1.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Adrenal insufficiency v1.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (gene set migration)
Adrenal insufficiency v1.0 TXNRD2 Gene migrated from ENSG00000184470 to ENSG00000184470 (gene set migration)
Adrenal insufficiency v1.0 KCNQ1 Gene migrated from ENSG00000053918 to ENSG00000053918 (gene set migration)
Adrenal insufficiency v1.0 TBCE Gene migrated from ENSG00000116957 to ENSG00000284770 (gene set migration)
Adrenal insufficiency v1.0 CPOX Gene migrated from ENSG00000080819 to ENSG00000080819 (gene set migration)
Adrenal insufficiency v1.0 ROBO1 Gene migrated from ENSG00000169855 to ENSG00000169855 (gene set migration)
Adrenal insufficiency v1.0 OTX2 Gene migrated from ENSG00000165588 to ENSG00000165588 (gene set migration)
Adrenal insufficiency v1.0 LIPA Gene migrated from ENSG00000107798 to ENSG00000107798 (gene set migration)
Adrenal insufficiency v1.0 GLI2 Gene migrated from ENSG00000074047 to ENSG00000074047 (gene set migration)
Adrenal insufficiency v1.0 CYP11B2 Gene migrated from ENSG00000179142 to ENSG00000179142 (gene set migration)
Adrenal insufficiency v1.0 AIRE Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration)
Adrenal insufficiency v1.0 NFKB2 Gene migrated from ENSG00000077150 to ENSG00000077150 (gene set migration)
Adrenal insufficiency v1.0 SGPL1 Gene migrated from ENSG00000166224 to ENSG00000166224 (gene set migration)
Adrenal insufficiency v1.0 NR5A1 Gene migrated from ENSG00000136931 to ENSG00000136931 (gene set migration)
Adrenal insufficiency v1.0 ABCD1 Gene migrated from ENSG00000101986 to ENSG00000101986 (gene set migration)
Adrenal insufficiency v1.0 PEX1 Gene migrated from ENSG00000127980 to ENSG00000127980 (gene set migration)
Adrenal insufficiency v1.0 POMC Gene migrated from ENSG00000115138 to ENSG00000115138 (gene set migration)
Adrenal insufficiency v1.0 PCSK1 Gene migrated from ENSG00000175426 to ENSG00000175426 (gene set migration)
Adrenal insufficiency v1.0 NNT Gene migrated from ENSG00000112992 to ENSG00000112992 (gene set migration)
Adrenal insufficiency v1.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Adrenal insufficiency v1.0 FOXA2 Gene migrated from ENSG00000125798 to ENSG00000125798 (gene set migration)
Adrenal insufficiency v1.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Adrenal insufficiency v1.0 SAMD9 Gene migrated from ENSG00000205413 to ENSG00000205413 (gene set migration)
Adrenal insufficiency v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.76
Congenital adrenal hyperplasia v1.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Congenital adrenal hyperplasia v1.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Congenital adrenal hyperplasia v1.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Congenital adrenal hyperplasia v1.0 HSD3B2 Gene migrated from ENSG00000203859 to ENSG00000203859 (gene set migration)
Congenital adrenal hyperplasia v1.0 CYP11B1 Gene migrated from ENSG00000160882 to ENSG00000160882 (gene set migration)
Congenital adrenal hyperplasia v1.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Congenital adrenal hyperplasia v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.8
Hypogonadotropic hypogonadism v1.0 ISCA-37478-Loss Region ISCA-37478-Loss migrated (gene set migration)
Hypogonadotropic hypogonadism v1.0 SEMA3E Gene migrated from ENSG00000170381 to ENSG00000170381 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HFE Gene migrated from ENSG00000010704 to ENSG00000010704 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TFR2 Gene migrated from ENSG00000106327 to ENSG00000106327 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ARHGAP5 Gene migrated from ENSG00000100852 to ENSG00000100852 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SLC40A1 Gene migrated from ENSG00000138449 to ENSG00000138449 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HJV Gene symbol changed from HFE2 to HJV during gene set migration (ENSG00000168509 -> ENSG00000168509)
Hypogonadotropic hypogonadism v1.0 HAMP Gene migrated from ENSG00000105697 to ENSG00000105697 (gene set migration)
Hypogonadotropic hypogonadism v1.0 IL17RD Gene migrated from ENSG00000144730 to ENSG00000144730 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NSMF Gene migrated from ENSG00000165802 to ENSG00000165802 (gene set migration)
Hypogonadotropic hypogonadism v1.0 DUSP6 Gene migrated from ENSG00000139318 to ENSG00000139318 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NHLH2 Gene migrated from ENSG00000177551 to ENSG00000177551 (gene set migration)
Hypogonadotropic hypogonadism v1.0 AXL Gene migrated from ENSG00000167601 to ENSG00000167601 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NKX2-1 Gene migrated from ENSG00000136352 to ENSG00000136352 (gene set migration)
Hypogonadotropic hypogonadism v1.0 IFT56 Gene symbol changed from TTC26 to IFT56 during gene set migration (ENSG00000105948 -> ENSG00000105948)
Hypogonadotropic hypogonadism v1.0 NRP2 Gene migrated from ENSG00000118257 to ENSG00000118257 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NRP1 Gene migrated from ENSG00000099250 to ENSG00000099250 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FLRT3 Gene migrated from ENSG00000125848 to ENSG00000125848 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HS6ST1 Gene migrated from ENSG00000136720 to ENSG00000136720 (gene set migration)
Hypogonadotropic hypogonadism v1.0 KISS1 Gene migrated from ENSG00000170498 to ENSG00000170498 (gene set migration)
Hypogonadotropic hypogonadism v1.0 RBM28 Gene migrated from ENSG00000106344 to ENSG00000106344 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SPRY4 Gene migrated from ENSG00000187678 to ENSG00000187678 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CCDC141 Gene migrated from ENSG00000163492 to ENSG00000163492 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ESRP2 Gene migrated from ENSG00000103067 to ENSG00000103067 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PRDM13 Gene migrated from ENSG00000112238 to ENSG00000112238 (gene set migration)
Hypogonadotropic hypogonadism v1.0 POU6F2 Gene migrated from ENSG00000106536 to ENSG00000106536 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PLXNB1 Gene migrated from ENSG00000164050 to ENSG00000164050 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FEZF1 Gene migrated from ENSG00000128610 to ENSG00000128610 (gene set migration)
Hypogonadotropic hypogonadism v1.0 RAX Gene migrated from ENSG00000134438 to ENSG00000134438 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ARNT2 Gene migrated from ENSG00000172379 to ENSG00000172379 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PLXNA1 Gene migrated from ENSG00000114554 to ENSG00000114554 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NLGN3 Gene migrated from ENSG00000196338 to ENSG00000196338 (gene set migration)
Hypogonadotropic hypogonadism v1.0 AMH Gene migrated from ENSG00000104899 to ENSG00000104899 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NDNF Gene migrated from ENSG00000173376 to ENSG00000173376 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GNRH1 Gene migrated from ENSG00000147437 to ENSG00000147437 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GNAI2 Gene migrated from ENSG00000114353 to ENSG00000114353 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SLC29A3 Gene migrated from ENSG00000198246 to ENSG00000198246 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SEMA3A Gene migrated from ENSG00000075213 to ENSG00000075213 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GLI3 Gene migrated from ENSG00000106571 to ENSG00000106571 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FSHB Gene migrated from ENSG00000131808 to ENSG00000131808 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FOXA2 Gene migrated from ENSG00000125798 to ENSG00000125798 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FGF8 Gene migrated from ENSG00000107831 to ENSG00000107831 (gene set migration)
Hypogonadotropic hypogonadism v1.0 EIF2S3 Gene migrated from ENSG00000130741 to ENSG00000130741 (gene set migration)
Hypogonadotropic hypogonadism v1.0 DCAF17 Gene migrated from ENSG00000115827 to ENSG00000115827 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CHD7 Gene migrated from ENSG00000171316 to ENSG00000171316 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ARHGAP35 Gene migrated from ENSG00000160007 to ENSG00000160007 (gene set migration)
Hypogonadotropic hypogonadism v1.0 KISS1R Gene migrated from ENSG00000116014 to ENSG00000116014 (gene set migration)
Hypogonadotropic hypogonadism v1.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FGF17 Gene migrated from ENSG00000158815 to ENSG00000158815 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TBX3 Gene migrated from ENSG00000135111 to ENSG00000135111 (gene set migration)
Hypogonadotropic hypogonadism v1.0 MT-TS2 Gene migrated from ENSG00000210184 to ENSG00000210184 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TUBB3 Gene migrated from ENSG00000258947 to ENSG00000258947 (gene set migration)
Hypogonadotropic hypogonadism v1.0 WDR11 Gene migrated from ENSG00000120008 to ENSG00000120008 (gene set migration)
Hypogonadotropic hypogonadism v1.0 RNF216 Gene migrated from ENSG00000011275 to ENSG00000011275 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SOX11 Gene migrated from ENSG00000176887 to ENSG00000176887 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SMCHD1 Gene migrated from ENSG00000101596 to ENSG00000101596 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SEMA3F Gene migrated from ENSG00000001617 to ENSG00000001617 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PCSK1 Gene migrated from ENSG00000175426 to ENSG00000175426 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PLXNA3 Gene migrated from ENSG00000130827 to ENSG00000130827 (gene set migration)
Hypogonadotropic hypogonadism v1.0 LHX4 Gene migrated from ENSG00000121454 to ENSG00000121454 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PROP1 Gene migrated from ENSG00000175325 to ENSG00000175325 (gene set migration)
Hypogonadotropic hypogonadism v1.0 KLB Gene migrated from ENSG00000134962 to ENSG00000134962 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HID1 Gene migrated from ENSG00000167861 to ENSG00000167861 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GNRHR Gene migrated from ENSG00000109163 to ENSG00000109163 (gene set migration)
Hypogonadotropic hypogonadism v1.0 GLI2 Gene migrated from ENSG00000074047 to ENSG00000074047 (gene set migration)
Hypogonadotropic hypogonadism v1.0 FGFR1 Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CUL4B Gene migrated from ENSG00000158290 to ENSG00000158290 (gene set migration)
Hypogonadotropic hypogonadism v1.0 BMP4 Gene migrated from ENSG00000125378 to ENSG00000125378 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ANOS1 Gene migrated from ENSG00000011201 to ENSG00000011201 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ROBO1 Gene migrated from ENSG00000169855 to ENSG00000169855 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SOX3 Gene migrated from ENSG00000134595 to ENSG00000134595 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SOX2 Gene migrated from ENSG00000181449 to ENSG00000181449 (gene set migration)
Hypogonadotropic hypogonadism v1.0 LEPR Gene migrated from ENSG00000116678 to ENSG00000116678 (gene set migration)
Hypogonadotropic hypogonadism v1.0 EMX2 Gene migrated from ENSG00000170370 to ENSG00000170370 (gene set migration)
Hypogonadotropic hypogonadism v1.0 CPE Gene migrated from ENSG00000109472 to ENSG00000109472 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NOS1 Gene migrated from ENSG00000089250 to ENSG00000089250 (gene set migration)
Hypogonadotropic hypogonadism v1.0 DLG2 Gene migrated from ENSG00000150672 to ENSG00000150672 (gene set migration)
Hypogonadotropic hypogonadism v1.0 SOX10 Gene migrated from ENSG00000100146 to ENSG00000100146 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TCF12 Gene migrated from ENSG00000140262 to ENSG00000140262 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TBC1D32 Gene migrated from ENSG00000146350 to ENSG00000146350 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TACR3 Gene migrated from ENSG00000169836 to ENSG00000169836 (gene set migration)
Hypogonadotropic hypogonadism v1.0 TAC3 Gene migrated from ENSG00000166863 to ENSG00000166863 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NEUROG3 Gene migrated from ENSG00000122859 to ENSG00000122859 (gene set migration)
Hypogonadotropic hypogonadism v1.0 ZRSR2 Gene migrated from ENSG00000169249 to ENSG00000169249 (gene set migration)
Hypogonadotropic hypogonadism v1.0 POLR3A Gene migrated from ENSG00000148606 to ENSG00000148606 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PROKR2 Gene migrated from ENSG00000101292 to ENSG00000101292 (gene set migration)
Hypogonadotropic hypogonadism v1.0 POLR3B Gene migrated from ENSG00000013503 to ENSG00000013503 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PNPLA6 Gene migrated from ENSG00000032444 to ENSG00000032444 (gene set migration)
Hypogonadotropic hypogonadism v1.0 PROK2 Gene migrated from ENSG00000163421 to ENSG00000163421 (gene set migration)
Hypogonadotropic hypogonadism v1.0 OTX2 Gene migrated from ENSG00000165588 to ENSG00000165588 (gene set migration)
Hypogonadotropic hypogonadism v1.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Hypogonadotropic hypogonadism v1.0 LHB Gene migrated from ENSG00000104826 to ENSG00000104826 (gene set migration)
Hypogonadotropic hypogonadism v1.0 HESX1 Gene migrated from ENSG00000163666 to ENSG00000163666 (gene set migration)
Hypogonadotropic hypogonadism v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.137
Primary nodular adrenocortical disease v1.0 KDM1A Gene migrated from ENSG00000004487 to ENSG00000004487 (gene set migration)
Primary nodular adrenocortical disease v1.0 PRKACA Gene migrated from ENSG00000072062 to ENSG00000072062 (gene set migration)
Primary nodular adrenocortical disease v1.0 ARMC5 Gene migrated from ENSG00000140691 to ENSG00000140691 (gene set migration)
Primary nodular adrenocortical disease v1.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Primary nodular adrenocortical disease v1.0 PDE8B Gene migrated from ENSG00000113231 to ENSG00000113231 (gene set migration)
Primary nodular adrenocortical disease v1.0 PDE11A Gene migrated from ENSG00000128655 to ENSG00000128655 (gene set migration)
Primary nodular adrenocortical disease v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.15
Hereditary Pigmentary Disorders v2.0 SNAI2 Gene migrated from ENSG00000019549 to ENSG00000019549 (gene set migration)
Hereditary Pigmentary Disorders v2.0 NOP10 Gene migrated from ENSG00000182117 to ENSG00000182117 (gene set migration)
Hereditary Pigmentary Disorders v2.0 EDNRB Gene migrated from ENSG00000136160 to ENSG00000136160 (gene set migration)
Hereditary Pigmentary Disorders v2.0 EDN3 Gene migrated from ENSG00000124205 to ENSG00000124205 (gene set migration)
Hereditary Pigmentary Disorders v2.0 PAX3 Gene migrated from ENSG00000135903 to ENSG00000135903 (gene set migration)
Hereditary Pigmentary Disorders v2.0 SOX10 Gene migrated from ENSG00000100146 to ENSG00000100146 (gene set migration)
Hereditary Pigmentary Disorders v2.0 MITF Gene migrated from ENSG00000187098 to ENSG00000187098 (gene set migration)
Hereditary Pigmentary Disorders v2.0 KIT Gene migrated from ENSG00000157404 to ENSG00000157404 (gene set migration)
Hereditary Pigmentary Disorders v2.0 GPNMB Gene migrated from ENSG00000136235 to ENSG00000136235 (gene set migration)
Hereditary Pigmentary Disorders v2.0 DKC1 Gene migrated from ENSG00000130826 to ENSG00000130826 (gene set migration)
Hereditary Pigmentary Disorders v2.0 DDB2 Gene migrated from ENSG00000134574 to ENSG00000134574 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ADAM10 Gene migrated from ENSG00000137845 to ENSG00000137845 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ACD Gene migrated from ENSG00000102977 to ENSG00000102977 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ABCB6 Gene migrated from ENSG00000115657 to ENSG00000115657 (gene set migration)
Hereditary Pigmentary Disorders v2.0 WRAP53 Gene migrated from ENSG00000141499 to ENSG00000141499 (gene set migration)
Hereditary Pigmentary Disorders v2.0 TINF2 Gene migrated from ENSG00000092330 to ENSG00000092330 (gene set migration)
Hereditary Pigmentary Disorders v2.0 TERT Gene migrated from ENSG00000164362 to ENSG00000164362 (gene set migration)
Hereditary Pigmentary Disorders v2.0 TERC Gene migrated from ENSG00000270141 to ENSG00000270141 (gene set migration)
Hereditary Pigmentary Disorders v2.0 RTEL1 Gene migrated from ENSG00000258366 to ENSG00000258366 (gene set migration)
Hereditary Pigmentary Disorders v2.0 POGLUT1 Gene migrated from ENSG00000163389 to ENSG00000163389 (gene set migration)
Hereditary Pigmentary Disorders v2.0 POFUT1 Gene migrated from ENSG00000101346 to ENSG00000101346 (gene set migration)
Hereditary Pigmentary Disorders v2.0 RPA1 Gene migrated from ENSG00000132383 to ENSG00000132383 (gene set migration)
Hereditary Pigmentary Disorders v2.0 PARN Gene migrated from ENSG00000140694 to ENSG00000140694 (gene set migration)
Hereditary Pigmentary Disorders v2.0 KRT5 Gene migrated from ENSG00000186081 to ENSG00000186081 (gene set migration)
Hereditary Pigmentary Disorders v2.0 OSMR Gene migrated from ENSG00000145623 to ENSG00000145623 (gene set migration)
Hereditary Pigmentary Disorders v2.0 NHP2 Gene migrated from ENSG00000145912 to ENSG00000145912 (gene set migration)
Hereditary Pigmentary Disorders v2.0 XPC Gene migrated from ENSG00000154767 to ENSG00000154767 (gene set migration)
Hereditary Pigmentary Disorders v2.0 POLH Gene migrated from ENSG00000170734 to ENSG00000170734 (gene set migration)
Hereditary Pigmentary Disorders v2.0 KRT14 Gene migrated from ENSG00000186847 to ENSG00000186847 (gene set migration)
Hereditary Pigmentary Disorders v2.0 IKBKG Gene migrated from ENSG00000269335 to ENSG00000269335 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC5 Gene migrated from ENSG00000134899 to ENSG00000134899 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC4 Gene migrated from ENSG00000175595 to ENSG00000175595 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC3 Gene migrated from ENSG00000163161 to ENSG00000163161 (gene set migration)
Hereditary Pigmentary Disorders v2.0 XPA Gene migrated from ENSG00000136936 to ENSG00000136936 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC2 Gene migrated from ENSG00000104884 to ENSG00000104884 (gene set migration)
Hereditary Pigmentary Disorders v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ERCC1 Gene migrated from ENSG00000012061 to ENSG00000012061 (gene set migration)
Hereditary Pigmentary Disorders v2.0 SASH1 Gene migrated from ENSG00000111961 to ENSG00000111961 (gene set migration)
Hereditary Pigmentary Disorders v2.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Hereditary Pigmentary Disorders v2.0 PSENEN Gene migrated from ENSG00000205155 to ENSG00000205155 (gene set migration)
Hereditary Pigmentary Disorders v2.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Hereditary Pigmentary Disorders v2.0 KITLG Gene migrated from ENSG00000049130 to ENSG00000049130 (gene set migration)
Hereditary Pigmentary Disorders v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.7
Genomic newborn screening: ICoNS v1.0 RPL5 Gene migrated from ENSG00000122406 to ENSG00000122406 (gene set migration)
Genomic newborn screening: ICoNS v1.0 CYP21A2 Gene migrated from ENSG00000231852 to ENSG00000231852 (gene set migration)
Genomic newborn screening: ICoNS v1.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPS24 Gene migrated from ENSG00000138326 to ENSG00000138326 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPL11 Gene migrated from ENSG00000142676 to ENSG00000142676 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPS17 Gene migrated from ENSG00000182774 to ENSG00000182774 (gene set migration)
Genomic newborn screening: ICoNS v1.0 CD3D Gene migrated from ENSG00000167286 to ENSG00000167286 (gene set migration)
Genomic newborn screening: ICoNS v1.0 PAH Gene migrated from ENSG00000171759 to ENSG00000171759 (gene set migration)
Genomic newborn screening: ICoNS v1.0 AK2 Gene migrated from ENSG00000004455 to ENSG00000004455 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ABCC8 Gene migrated from ENSG00000006071 to ENSG00000006071 (gene set migration)
Genomic newborn screening: ICoNS v1.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Genomic newborn screening: ICoNS v1.0 MYH7 Gene migrated from ENSG00000092054 to ENSG00000092054 (gene set migration)
Genomic newborn screening: ICoNS v1.0 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ZAP70 Gene migrated from ENSG00000115085 to ENSG00000115085 (gene set migration)
Genomic newborn screening: ICoNS v1.0 F9 Gene migrated from ENSG00000101981 to ENSG00000101981 (gene set migration)
Genomic newborn screening: ICoNS v1.0 GAMT Gene migrated from ENSG00000130005 to ENSG00000130005 (gene set migration)
Genomic newborn screening: ICoNS v1.0 CBS Gene migrated from ENSG00000160200 to ENSG00000160200 (gene set migration)
Genomic newborn screening: ICoNS v1.0 TCN2 Gene migrated from ENSG00000185339 to ENSG00000185339 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ALDH7A1 Gene migrated from ENSG00000164904 to ENSG00000164904 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ACADM Gene migrated from ENSG00000117054 to ENSG00000117054 (gene set migration)
Genomic newborn screening: ICoNS v1.0 LHX3 Gene migrated from ENSG00000107187 to ENSG00000107187 (gene set migration)
Genomic newborn screening: ICoNS v1.0 GALK1 Gene migrated from ENSG00000108479 to ENSG00000108479 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPS26 Gene migrated from ENSG00000197728 to ENSG00000197728 (gene set migration)
Genomic newborn screening: ICoNS v1.0 RPS19 Gene migrated from ENSG00000105372 to ENSG00000105372 (gene set migration)
Genomic newborn screening: ICoNS v1.0 ARSB Gene migrated from ENSG00000113273 to ENSG00000113273 (gene set migration)
Genomic newborn screening: ICoNS v1.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (gene set migration)
Genomic newborn screening: ICoNS v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.41
Infertility and Recurrent Pregnancy Loss v2.0 ISCA-37494-Loss Region ISCA-37494-Loss: gene migrated from ENSG00000155961 to ENSG00000155961 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PDCD2 Gene migrated from ENSG00000071994 to ENSG00000071994 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPACA1 Gene migrated from ENSG00000118434 to ENSG00000118434 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ASIC5 Gene migrated from ENSG00000256394 to ENSG00000256394 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KIF14 Gene migrated from ENSG00000118193 to ENSG00000118193 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TTN Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TAF4B Gene migrated from ENSG00000141384 to ENSG00000141384 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PIEZO1 Gene migrated from ENSG00000103335 to ENSG00000103335 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP119 Gene symbol changed from CCDC189 to CFAP119 during gene set migration (ENSG00000196118 -> ENSG00000196118)
Infertility and Recurrent Pregnancy Loss v2.0 PDHA2 Gene migrated from ENSG00000163114 to ENSG00000163114 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CT55 Gene migrated from ENSG00000169551 to ENSG00000169551 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 C1orf146 Gene migrated from ENSG00000203910 to ENSG00000203910 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPINK2 Gene migrated from ENSG00000128040 to ENSG00000128040 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NUP210L Gene migrated from ENSG00000143552 to ENSG00000143552 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PACRG Gene migrated from ENSG00000112530 to ENSG00000112530 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 STIL Gene migrated from ENSG00000123473 to ENSG00000123473 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SMC1B Gene migrated from ENSG00000077935 to ENSG00000077935 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SOX8 Gene migrated from ENSG00000005513 to ENSG00000005513 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZPBP Gene migrated from ENSG00000042813 to ENSG00000042813 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ACR Gene migrated from ENSG00000100312 to ENSG00000100312 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TCFL5 Gene migrated from ENSG00000101190 to ENSG00000101190 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CHRNA1 Gene migrated from ENSG00000138435 to ENSG00000138435 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZNF185 Gene migrated from ENSG00000147394 to ENSG00000147394 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZNF597 Gene migrated from ENSG00000167981 to ENSG00000167981 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NXF3 Gene migrated from ENSG00000147206 to ENSG00000147206 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 WNT6 Gene migrated from ENSG00000115596 to ENSG00000115596 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TACC3 Gene migrated from ENSG00000013810 to ENSG00000013810 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NKAPL Gene migrated from ENSG00000189134 to ENSG00000189134 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 REC8 Gene migrated from ENSG00000100918 to ENSG00000100918 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RNF212B Gene migrated from ENSG00000215277 to ENSG00000215277 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 USP26 Gene migrated from ENSG00000134588 to ENSG00000134588 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MUSK Gene migrated from ENSG00000030304 to ENSG00000030304 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TIMP2 Gene migrated from ENSG00000035862 to ENSG00000035862 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CPEB1 Gene migrated from ENSG00000214575 to ENSG00000214575 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FRAS1 Gene migrated from ENSG00000138759 to ENSG00000138759 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 IQUB Gene migrated from ENSG00000164675 to ENSG00000164675 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ANAPC13 Gene migrated from ENSG00000129055 to ENSG00000129055 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPEM2 Gene symbol changed from C17orf74 to SPEM2 during gene set migration (ENSG00000184560 -> ENSG00000184560)
Infertility and Recurrent Pregnancy Loss v2.0 HELB Gene migrated from ENSG00000127311 to ENSG00000127311 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MTHFR Gene migrated from ENSG00000177000 to ENSG00000177000 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEKT3 Gene migrated from ENSG00000125409 to ENSG00000125409 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP206 Gene migrated from ENSG00000272514 to ENSG00000272514 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PPP2R1B Gene migrated from ENSG00000137713 to ENSG00000137713 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AKAP3 Gene migrated from ENSG00000111254 to ENSG00000111254 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RAD51AP2 Gene migrated from ENSG00000214842 to ENSG00000214842 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MDC1 Gene migrated from ENSG00000137337 to ENSG00000137337 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CAPZA1 Gene migrated from ENSG00000116489 to ENSG00000116489 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TOP6BL Gene symbol changed from C11orf80 to TOP6BL during gene set migration (ENSG00000173715 -> ENSG00000173715)
Infertility and Recurrent Pregnancy Loss v2.0 NXT2 Gene migrated from ENSG00000101888 to ENSG00000101888 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CCDC89 Gene migrated from ENSG00000179071 to ENSG00000179071 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FKBP4 Gene migrated from ENSG00000004478 to ENSG00000004478 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TULP2 Gene migrated from ENSG00000104804 to ENSG00000104804 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BRDT Gene migrated from ENSG00000137948 to ENSG00000137948 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PIWIL1 Gene migrated from ENSG00000125207 to ENSG00000125207 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP263 Gene symbol changed from CCDC113 to CFAP263 during gene set migration (ENSG00000103021 -> ENSG00000103021)
Infertility and Recurrent Pregnancy Loss v2.0 OOEP Gene migrated from ENSG00000203907 to ENSG00000203907 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NLRP14 Gene migrated from ENSG00000158077 to ENSG00000158077 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HNRNPR Gene migrated from ENSG00000125944 to ENSG00000125944 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 C4BPA Gene migrated from ENSG00000123838 to ENSG00000123838 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POF1B Gene migrated from ENSG00000124429 to ENSG00000124429 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CAPS Gene migrated from ENSG00000105519 to ENSG00000105519 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MRPS22 Gene migrated from ENSG00000175110 to ENSG00000175110 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MAJIN Gene migrated from ENSG00000168070 to ENSG00000168070 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 APBB1 Gene migrated from ENSG00000166313 to ENSG00000166313 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ATG4D Gene migrated from ENSG00000130734 to ENSG00000130734 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GBE1 Gene migrated from ENSG00000114480 to ENSG00000114480 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DDOST Gene migrated from ENSG00000244038 to ENSG00000244038 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KPNA7 Gene migrated from ENSG00000185467 to ENSG00000185467 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FGA Gene migrated from ENSG00000171560 to ENSG00000171560 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NANOS1 Gene migrated from ENSG00000188613 to ENSG00000188613 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SYCP3 Gene migrated from ENSG00000139351 to ENSG00000139351 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 INCENP Gene migrated from ENSG00000149503 to ENSG00000149503 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PROK2 Gene migrated from ENSG00000163421 to ENSG00000163421 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NOTCH2 Gene migrated from ENSG00000134250 to ENSG00000134250 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HSF2BP Gene migrated from ENSG00000160207 to ENSG00000160207 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KISS1R Gene migrated from ENSG00000116014 to ENSG00000116014 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LHX8 Gene migrated from ENSG00000162624 to ENSG00000162624 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MCM9 Gene migrated from ENSG00000111877 to ENSG00000111877 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FGFR1 Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POLR3B Gene migrated from ENSG00000013503 to ENSG00000013503 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ANKRD31 Gene migrated from ENSG00000145700 to ENSG00000145700 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 C14orf39 Gene migrated from ENSG00000179008 to ENSG00000179008 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FANCM Gene migrated from ENSG00000187790 to ENSG00000187790 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BNC1 Gene migrated from ENSG00000169594 to ENSG00000169594 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DCAF17 Gene migrated from ENSG00000115827 to ENSG00000115827 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 H6PD Gene migrated from ENSG00000049239 to ENSG00000049239 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FBXO43 Gene migrated from ENSG00000156509 to ENSG00000156509 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAAF1 Gene migrated from ENSG00000154099 to ENSG00000154099 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAAF4 Gene migrated from ENSG00000256061 to ENSG00000256061 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PMM2 Gene migrated from ENSG00000140650 to ENSG00000140650 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PNPLA6 Gene migrated from ENSG00000032444 to ENSG00000032444 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TP63 Gene migrated from ENSG00000073282 to ENSG00000073282 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HARS2 Gene migrated from ENSG00000112855 to ENSG00000112855 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FIGLA Gene migrated from ENSG00000183733 to ENSG00000183733 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NR0B1 Gene migrated from ENSG00000169297 to ENSG00000169297 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NR5A1 Gene migrated from ENSG00000136931 to ENSG00000136931 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FOXD1 Gene migrated from ENSG00000251493 to ENSG00000251493 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 IKBKG Gene migrated from ENSG00000269335 to ENSG00000269335 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MSH5 Gene migrated from ENSG00000204410 to ENSG00000204410 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LHB Gene migrated from ENSG00000104826 to ENSG00000104826 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPEF2 Gene migrated from ENSG00000152582 to ENSG00000152582 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LARS2 Gene migrated from ENSG00000011376 to ENSG00000011376 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BCORL1 Gene migrated from ENSG00000085185 to ENSG00000085185 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CDC25A Gene migrated from ENSG00000164045 to ENSG00000164045 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EIF2B2 Gene migrated from ENSG00000119718 to ENSG00000119718 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ESR1 Gene migrated from ENSG00000091831 to ENSG00000091831 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CATSPER1 Gene migrated from ENSG00000175294 to ENSG00000175294 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GNRH1 Gene migrated from ENSG00000147437 to ENSG00000147437 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH12 Gene migrated from ENSG00000174844 to ENSG00000174844 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SEPTIN4 Gene symbol changed from SEPT4 to SEPTIN4 during gene set migration (ENSG00000108387 -> ENSG00000108387)
Infertility and Recurrent Pregnancy Loss v2.0 TUBA1C Gene migrated from ENSG00000167553 to ENSG00000167553 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TUBA4A Gene migrated from ENSG00000127824 to ENSG00000127824 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NUP205 Gene migrated from ENSG00000155561 to ENSG00000155561 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SYCP2 Gene migrated from ENSG00000196074 to ENSG00000196074 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KASH5 Gene symbol changed from CCDC155 to KASH5 during gene set migration (ENSG00000161609 -> ENSG00000161609)
Infertility and Recurrent Pregnancy Loss v2.0 MEIOB Gene migrated from ENSG00000162039 to ENSG00000162039 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TBPL2 Gene migrated from ENSG00000182521 to ENSG00000182521 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FOXL2 Gene migrated from ENSG00000183770 to ENSG00000183770 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MEI1 Gene migrated from ENSG00000167077 to ENSG00000167077 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH11 Gene migrated from ENSG00000105877 to ENSG00000105877 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CHEK1 Gene migrated from ENSG00000149554 to ENSG00000149554 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BTG4 Gene migrated from ENSG00000137707 to ENSG00000137707 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AIRE Gene migrated from ENSG00000160224 to ENSG00000160224 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CYP17A1 Gene migrated from ENSG00000148795 to ENSG00000148795 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LHCGR Gene migrated from ENSG00000138039 to ENSG00000138039 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NLRP2 Gene migrated from ENSG00000022556 to ENSG00000022556 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MOS Gene migrated from ENSG00000172680 to ENSG00000172680 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 WT1 Gene migrated from ENSG00000184937 to ENSG00000184937 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SYCE1 Gene migrated from ENSG00000171772 to ENSG00000171772 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 STAR Gene migrated from ENSG00000147465 to ENSG00000147465 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FOXP3 Gene migrated from ENSG00000049768 to ENSG00000049768 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ASTL Gene migrated from ENSG00000188886 to ENSG00000188886 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TRIP13 Gene migrated from ENSG00000071539 to ENSG00000071539 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PANX1 Gene migrated from ENSG00000110218 to ENSG00000110218 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TLE6 Gene migrated from ENSG00000104953 to ENSG00000104953 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 REC114 Gene migrated from ENSG00000183324 to ENSG00000183324 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 WEE2 Gene migrated from ENSG00000214102 to ENSG00000214102 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PABPC1L Gene migrated from ENSG00000101104 to ENSG00000101104 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZFP36L2 Gene migrated from ENSG00000152518 to ENSG00000152518 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NLRP7 Gene migrated from ENSG00000167634 to ENSG00000167634 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MSH4 Gene migrated from ENSG00000057468 to ENSG00000057468 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AARS2 Gene migrated from ENSG00000124608 to ENSG00000124608 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AMHR2 Gene migrated from ENSG00000135409 to ENSG00000135409 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AMH Gene migrated from ENSG00000104899 to ENSG00000104899 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DHH Gene migrated from ENSG00000139549 to ENSG00000139549 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH1 Gene migrated from ENSG00000114841 to ENSG00000114841 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 STAG3 Gene migrated from ENSG00000066923 to ENSG00000066923 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FSHB Gene migrated from ENSG00000131808 to ENSG00000131808 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ELL3 Gene migrated from ENSG00000128886 to ENSG00000128886 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 UBE2B Gene migrated from ENSG00000119048 to ENSG00000119048 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FSHR Gene migrated from ENSG00000170820 to ENSG00000170820 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HFM1 Gene migrated from ENSG00000162669 to ENSG00000162669 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BMP15 Gene migrated from ENSG00000130385 to ENSG00000130385 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GDF9 Gene migrated from ENSG00000164404 to ENSG00000164404 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SOHLH1 Gene migrated from ENSG00000165643 to ENSG00000165643 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PSMC3IP Gene migrated from ENSG00000131470 to ENSG00000131470 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PRDM9 Gene migrated from ENSG00000164256 to ENSG00000164256 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PATL2 Gene migrated from ENSG00000229474 to ENSG00000229474 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NOBOX Gene migrated from ENSG00000106410 to ENSG00000106410 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MCM8 Gene migrated from ENSG00000125885 to ENSG00000125885 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AURKC Gene migrated from ENSG00000105146 to ENSG00000105146 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZP3 Gene migrated from ENSG00000188372 to ENSG00000188372 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZP2 Gene migrated from ENSG00000103310 to ENSG00000103310 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZP1 Gene migrated from ENSG00000149506 to ENSG00000149506 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TUBB8 Gene migrated from ENSG00000261456 to ENSG00000261456 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EIF4ENIF1 Gene migrated from ENSG00000184708 to ENSG00000184708 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CCNB3 Gene migrated from ENSG00000147082 to ENSG00000147082 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RXFP2 Gene migrated from ENSG00000133105 to ENSG00000133105 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GGN Gene migrated from ENSG00000179168 to ENSG00000179168 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FKBP6 Gene migrated from ENSG00000077800 to ENSG00000077800 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DPY19L2 Gene migrated from ENSG00000177990 to ENSG00000177990 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SLC26A8 Gene migrated from ENSG00000112053 to ENSG00000112053 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KHDC3L Gene migrated from ENSG00000203908 to ENSG00000203908 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CDC20 Gene migrated from ENSG00000117399 to ENSG00000117399 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PADI6 Gene migrated from ENSG00000276747 to ENSG00000276747 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEX11 Gene migrated from ENSG00000120498 to ENSG00000120498 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPAG6 Gene migrated from ENSG00000077327 to ENSG00000077327 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EXO1 Gene migrated from ENSG00000174371 to ENSG00000174371 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DDX3Y Gene migrated from ENSG00000067048 to ENSG00000067048 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SEPTIN12 Gene symbol changed from SEPT12 to SEPTIN12 during gene set migration (ENSG00000140623 -> ENSG00000140623)
Infertility and Recurrent Pregnancy Loss v2.0 PLCZ1 Gene migrated from ENSG00000139151 to ENSG00000139151 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZAR1 Gene migrated from ENSG00000182223 to ENSG00000182223 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP47 Gene migrated from ENSG00000165164 to ENSG00000165164 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AK7 Gene migrated from ENSG00000140057 to ENSG00000140057 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MLH3 Gene migrated from ENSG00000119684 to ENSG00000119684 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ADGB Gene migrated from ENSG00000118492 to ENSG00000118492 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 LRRC23 Gene migrated from ENSG00000010626 to ENSG00000010626 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HIPK4 Gene migrated from ENSG00000160396 to ENSG00000160396 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NLRP5 Gene migrated from ENSG00000171487 to ENSG00000171487 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MOV10L1 Gene migrated from ENSG00000073146 to ENSG00000073146 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 YTHDC2 Gene migrated from ENSG00000047188 to ENSG00000047188 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ADAD2 Gene migrated from ENSG00000140955 to ENSG00000140955 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPATA22 Gene migrated from ENSG00000141255 to ENSG00000141255 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ASB9 Gene migrated from ENSG00000102048 to ENSG00000102048 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 QRICH2 Gene migrated from ENSG00000129646 to ENSG00000129646 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP44 Gene migrated from ENSG00000206530 to ENSG00000206530 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AK9 Gene migrated from ENSG00000155085 to ENSG00000155085 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP91 Gene symbol changed from MAATS1 to CFAP91 during gene set migration (ENSG00000183833 -> ENSG00000183833)
Infertility and Recurrent Pregnancy Loss v2.0 TSGA10 Gene migrated from ENSG00000135951 to ENSG00000135951 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TTC21A Gene migrated from ENSG00000168026 to ENSG00000168026 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SSX1 Gene migrated from ENSG00000126752 to ENSG00000126752 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ADGRG2 Gene migrated from ENSG00000173698 to ENSG00000173698 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 INSL3 Gene migrated from ENSG00000248099 to ENSG00000248099 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TBC1D8 Gene migrated from ENSG00000204634 to ENSG00000204634 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP61 Gene migrated from ENSG00000089101 to ENSG00000089101 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CCDC146 Gene migrated from ENSG00000135205 to ENSG00000135205 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 REDIC1 Gene symbol changed from C12orf40 to REDIC1 during gene set migration (ENSG00000180116 -> ENSG00000180116)
Infertility and Recurrent Pregnancy Loss v2.0 ARMC12 Gene migrated from ENSG00000157343 to ENSG00000157343 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP251 Gene symbol changed from WDR66 to CFAP251 during gene set migration (ENSG00000158023 -> ENSG00000158023)
Infertility and Recurrent Pregnancy Loss v2.0 SUN5 Gene migrated from ENSG00000167098 to ENSG00000167098 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TTC29 Gene migrated from ENSG00000137473 to ENSG00000137473 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPAG17 Gene migrated from ENSG00000155761 to ENSG00000155761 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNALI1 Gene migrated from ENSG00000163879 to ENSG00000163879 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPIDR Gene migrated from ENSG00000164808 to ENSG00000164808 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP43 Gene migrated from ENSG00000197748 to ENSG00000197748 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH9 Gene migrated from ENSG00000007174 to ENSG00000007174 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ARMC2 Gene migrated from ENSG00000118690 to ENSG00000118690 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TERB1 Gene migrated from ENSG00000249961 to ENSG00000249961 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RBBP7 Gene migrated from ENSG00000102054 to ENSG00000102054 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SPATA16 Gene migrated from ENSG00000144962 to ENSG00000144962 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TDRD6 Gene migrated from ENSG00000180113 to ENSG00000180113 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZMYND12 Gene migrated from ENSG00000066185 to ENSG00000066185 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ZSWIM7 Gene migrated from ENSG00000214941 to ENSG00000214941 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CCNP Gene symbol changed from CNTD2 to CCNP during gene set migration (ENSG00000105219 -> ENSG00000105219)
Infertility and Recurrent Pregnancy Loss v2.0 CCDC188 Gene migrated from ENSG00000234409 to ENSG00000234409 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KCTD19 Gene migrated from ENSG00000168676 to ENSG00000168676 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 MCMDC2 Gene migrated from ENSG00000178460 to ENSG00000178460 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 AXDND1 Gene migrated from ENSG00000162779 to ENSG00000162779 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TDRD9 Gene migrated from ENSG00000156414 to ENSG00000156414 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEX44 Gene migrated from ENSG00000177673 to ENSG00000177673 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TDRD12 Gene migrated from ENSG00000173809 to ENSG00000173809 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DLGAP5 Gene migrated from ENSG00000126787 to ENSG00000126787 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH6 Gene migrated from ENSG00000115423 to ENSG00000115423 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH2 Gene migrated from ENSG00000183914 to ENSG00000183914 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNHD1 Gene migrated from ENSG00000179532 to ENSG00000179532 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH10 Gene migrated from ENSG00000197653 to ENSG00000197653 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ANOS1 Gene migrated from ENSG00000011201 to ENSG00000011201 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 KCNU1 Gene migrated from ENSG00000215262 to ENSG00000215262 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CYP19A1 Gene migrated from ENSG00000137869 to ENSG00000137869 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ACTL7A Gene migrated from ENSG00000187003 to ENSG00000187003 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 IQCN Gene symbol changed from KIAA1683 to IQCN during gene set migration (ENSG00000130518 -> ENSG00000130518)
Infertility and Recurrent Pregnancy Loss v2.0 ACTL9 Gene migrated from ENSG00000181786 to ENSG00000181786 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEX14 Gene migrated from ENSG00000121101 to ENSG00000121101 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CFAP221 Gene migrated from ENSG00000163075 to ENSG00000163075 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GALT Gene migrated from ENSG00000213930 to ENSG00000213930 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FGF8 Gene migrated from ENSG00000107831 to ENSG00000107831 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GNRHR Gene migrated from ENSG00000109163 to ENSG00000109163 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 ERCC6 Gene migrated from ENSG00000225830 to ENSG00000225830 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 NUP107 Gene migrated from ENSG00000111581 to ENSG00000111581 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POLR3A Gene migrated from ENSG00000148606 to ENSG00000148606 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DAP3 Gene migrated from ENSG00000132676 to ENSG00000132676 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EIF2B5 Gene migrated from ENSG00000145191 to ENSG00000145191 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 EIF2B4 Gene migrated from ENSG00000115211 to ENSG00000115211 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 GGPS1 Gene migrated from ENSG00000152904 to ENSG00000152904 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 HROB Gene symbol changed from C17orf53 to HROB during gene set migration (ENSG00000125319 -> ENSG00000125319)
Infertility and Recurrent Pregnancy Loss v2.0 CLPB Gene migrated from ENSG00000162129 to ENSG00000162129 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 WDR11 Gene migrated from ENSG00000120008 to ENSG00000120008 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TWNK Gene migrated from ENSG00000107815 to ENSG00000107815 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 POR Gene migrated from ENSG00000127948 to ENSG00000127948 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SEMA3A Gene migrated from ENSG00000075213 to ENSG00000075213 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 SYCP2L Gene migrated from ENSG00000153157 to ENSG00000153157 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TAC3 Gene migrated from ENSG00000166863 to ENSG00000166863 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TACR3 Gene migrated from ENSG00000169836 to ENSG00000169836 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 RNF216 Gene migrated from ENSG00000011275 to ENSG00000011275 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 PREPL Gene migrated from ENSG00000138078 to ENSG00000138078 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 FSIP2 Gene migrated from ENSG00000188738 to ENSG00000188738 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DMRT1 Gene migrated from ENSG00000137090 to ENSG00000137090 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH3 Gene migrated from ENSG00000158486 to ENSG00000158486 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 CEP112 Gene migrated from ENSG00000154240 to ENSG00000154240 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TEX15 Gene migrated from ENSG00000133863 to ENSG00000133863 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 DNAH8 Gene migrated from ENSG00000124721 to ENSG00000124721 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 TFDP3 Gene migrated from ENSG00000183434 to ENSG00000183434 (gene set migration)
Infertility and Recurrent Pregnancy Loss v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.180
Cardiac conduction disease v2.0 NNT Gene migrated from ENSG00000112992 to ENSG00000112992 (gene set migration)
Cardiac conduction disease v2.0 MRC2 Gene migrated from ENSG00000011028 to ENSG00000011028 (gene set migration)
Cardiac conduction disease v2.0 GNB2 Gene migrated from ENSG00000172354 to ENSG00000172354 (gene set migration)
Cardiac conduction disease v2.0 TRPM4 Gene migrated from ENSG00000130529 to ENSG00000130529 (gene set migration)
Cardiac conduction disease v2.0 GJA5 Gene migrated from ENSG00000265107 to ENSG00000265107 (gene set migration)
Cardiac conduction disease v2.0 CLCA2 Gene migrated from ENSG00000137975 to ENSG00000137975 (gene set migration)
Cardiac conduction disease v2.0 SCN1B Gene migrated from ENSG00000105711 to ENSG00000105711 (gene set migration)
Cardiac conduction disease v2.0 DES Gene migrated from ENSG00000175084 to ENSG00000175084 (gene set migration)
Cardiac conduction disease v2.0 TBX5 Gene migrated from ENSG00000089225 to ENSG00000089225 (gene set migration)
Cardiac conduction disease v2.0 TTR Gene migrated from ENSG00000118271 to ENSG00000118271 (gene set migration)
Cardiac conduction disease v2.0 TNNI3K Gene migrated from ENSG00000116783 to ENSG00000116783 (gene set migration)
Cardiac conduction disease v2.0 PRKAG2 Gene migrated from ENSG00000106617 to ENSG00000106617 (gene set migration)
Cardiac conduction disease v2.0 NKX2-5 Gene migrated from ENSG00000183072 to ENSG00000183072 (gene set migration)
Cardiac conduction disease v2.0 LMNA Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration)
Cardiac conduction disease v2.0 LAMP2 Gene migrated from ENSG00000005893 to ENSG00000005893 (gene set migration)
Cardiac conduction disease v2.0 HCN4 Gene migrated from ENSG00000138622 to ENSG00000138622 (gene set migration)
Cardiac conduction disease v2.0 GLA Gene migrated from ENSG00000102393 to ENSG00000102393 (gene set migration)
Cardiac conduction disease v2.0 EMD Gene migrated from ENSG00000102119 to ENSG00000102119 (gene set migration)
Cardiac conduction disease v2.0 SCN5A Gene migrated from ENSG00000183873 to ENSG00000183873 (gene set migration)
Cardiac conduction disease v2.0 POPDC2 Gene migrated from ENSG00000121577 to ENSG00000121577 (gene set migration)
Cardiac conduction disease v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.6
Autoimmune Lymphoproliferative Syndrome v2.0 CASP10 Gene migrated from ENSG00000003400 to ENSG00000003400 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 RASGRP1 Gene migrated from ENSG00000172575 to ENSG00000172575 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 PIK3CD Gene migrated from ENSG00000171608 to ENSG00000171608 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 NFKB1 Gene migrated from ENSG00000109320 to ENSG00000109320 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 MAGT1 Gene migrated from ENSG00000102158 to ENSG00000102158 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 KRAS Gene migrated from ENSG00000133703 to ENSG00000133703 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 ITK Gene migrated from ENSG00000113263 to ENSG00000113263 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 FASLG Gene migrated from ENSG00000117560 to ENSG00000117560 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 FADD Gene migrated from ENSG00000168040 to ENSG00000168040 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 CASP8 Gene migrated from ENSG00000064012 to ENSG00000064012 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 FAS Gene migrated from ENSG00000026103 to ENSG00000026103 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 STAT3 Gene migrated from ENSG00000168610 to ENSG00000168610 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 NFKB2 Gene migrated from ENSG00000077150 to ENSG00000077150 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 PIK3R1 Gene migrated from ENSG00000145675 to ENSG00000145675 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 PRKCD Gene migrated from ENSG00000163932 to ENSG00000163932 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 LRBA Gene migrated from ENSG00000198589 to ENSG00000198589 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 CTLA4 Gene migrated from ENSG00000163599 to ENSG00000163599 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 ADA2 Gene migrated from ENSG00000093072 to ENSG00000093072 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 NRAS Gene migrated from ENSG00000213281 to ENSG00000213281 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 IKZF1 Gene migrated from ENSG00000185811 to ENSG00000185811 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.12
Breast Cancer v2.0 ISCA-37431-Loss Region ISCA-37431-Loss migrated (gene set migration)
Breast Cancer v2.0 MUTYH Gene migrated from ENSG00000132781 to ENSG00000132781 (gene set migration)
Breast Cancer v2.0 XRCC2 Gene migrated from ENSG00000196584 to ENSG00000196584 (gene set migration)
Breast Cancer v2.0 SLX4 Gene migrated from ENSG00000188827 to ENSG00000188827 (gene set migration)
Breast Cancer v2.0 RINT1 Gene migrated from ENSG00000135249 to ENSG00000135249 (gene set migration)
Breast Cancer v2.0 RAD50 Gene migrated from ENSG00000113522 to ENSG00000113522 (gene set migration)
Breast Cancer v2.0 PIK3CA Gene migrated from ENSG00000121879 to ENSG00000121879 (gene set migration)
Breast Cancer v2.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Breast Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Breast Cancer v2.0 MRE11 Gene migrated from ENSG00000020922 to ENSG00000020922 (gene set migration)
Breast Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Breast Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Breast Cancer v2.0 GEN1 Gene migrated from ENSG00000178295 to ENSG00000178295 (gene set migration)
Breast Cancer v2.0 BRIP1 Gene migrated from ENSG00000136492 to ENSG00000136492 (gene set migration)
Breast Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Breast Cancer v2.0 RECQL Gene migrated from ENSG00000004700 to ENSG00000004700 (gene set migration)
Breast Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Breast Cancer v2.0 RAD51C Gene migrated from ENSG00000108384 to ENSG00000108384 (gene set migration)
Breast Cancer v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Breast Cancer v2.0 BARD1 Gene migrated from ENSG00000138376 to ENSG00000138376 (gene set migration)
Breast Cancer v2.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Breast Cancer v2.0 RAD51D Gene migrated from ENSG00000185379 to ENSG00000185379 (gene set migration)
Breast Cancer v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Breast Cancer v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Breast Cancer v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Breast Cancer v2.0 CDH1 Gene migrated from ENSG00000039068 to ENSG00000039068 (gene set migration)
Breast Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Breast Cancer v2.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Breast Cancer v2.0 CHEK2 Gene migrated from ENSG00000183765 to ENSG00000183765 (gene set migration)
Breast Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Breast Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.19
Ovarian Cancer v2.0 BARD1 Gene migrated from ENSG00000138376 to ENSG00000138376 (gene set migration)
Ovarian Cancer v2.0 MUTYH Gene migrated from ENSG00000132781 to ENSG00000132781 (gene set migration)
Ovarian Cancer v2.0 RAD50 Gene migrated from ENSG00000113522 to ENSG00000113522 (gene set migration)
Ovarian Cancer v2.0 MRE11 Gene migrated from ENSG00000020922 to ENSG00000020922 (gene set migration)
Ovarian Cancer v2.0 CHEK2 Gene migrated from ENSG00000183765 to ENSG00000183765 (gene set migration)
Ovarian Cancer v2.0 BRIP1 Gene migrated from ENSG00000136492 to ENSG00000136492 (gene set migration)
Ovarian Cancer v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Ovarian Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Ovarian Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Ovarian Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Ovarian Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Ovarian Cancer v2.0 RAD51D Gene migrated from ENSG00000185379 to ENSG00000185379 (gene set migration)
Ovarian Cancer v2.0 RAD51C Gene migrated from ENSG00000108384 to ENSG00000108384 (gene set migration)
Ovarian Cancer v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Ovarian Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Ovarian Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Ovarian Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Ovarian Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.6
Endometrial Cancer v2.0 POLD1 Gene migrated from ENSG00000062822 to ENSG00000062822 (gene set migration)
Endometrial Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Endometrial Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Endometrial Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Endometrial Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Endometrial Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Endometrial Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Endometrial Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Endometrial Cancer v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Endometrial Cancer v2.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (gene set migration)
Endometrial Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Prostate Cancer v2.0 HOXB13 Gene migrated from ENSG00000159184 to ENSG00000159184 (gene set migration)
Prostate Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Prostate Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Prostate Cancer v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Prostate Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Prostate Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Prostate Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Prostate Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Prostate Cancer v2.0 CHEK2 Gene migrated from ENSG00000183765 to ENSG00000183765 (gene set migration)
Prostate Cancer v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Prostate Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Prostate Cancer v2.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Prostate Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Colorectal Cancer and Polyposis v2.0 SEMA4A Gene migrated from ENSG00000196189 to ENSG00000196189 (gene set migration)
Colorectal Cancer and Polyposis v2.0 PMS1 Gene migrated from ENSG00000064933 to ENSG00000064933 (gene set migration)
Colorectal Cancer and Polyposis v2.0 EXO1 Gene migrated from ENSG00000174371 to ENSG00000174371 (gene set migration)
Colorectal Cancer and Polyposis v2.0 NTHL1 Gene migrated from ENSG00000065057 to ENSG00000065057 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MUTYH Gene migrated from ENSG00000132781 to ENSG00000132781 (gene set migration)
Colorectal Cancer and Polyposis v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Colorectal Cancer and Polyposis v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Colorectal Cancer and Polyposis v2.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Colorectal Cancer and Polyposis v2.0 SMAD4 Gene migrated from ENSG00000141646 to ENSG00000141646 (gene set migration)
Colorectal Cancer and Polyposis v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Colorectal Cancer and Polyposis v2.0 POLE Gene migrated from ENSG00000177084 to ENSG00000177084 (gene set migration)
Colorectal Cancer and Polyposis v2.0 POLD1 Gene migrated from ENSG00000062822 to ENSG00000062822 (gene set migration)
Colorectal Cancer and Polyposis v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Colorectal Cancer and Polyposis v2.0 BMPR1A Gene migrated from ENSG00000107779 to ENSG00000107779 (gene set migration)
Colorectal Cancer and Polyposis v2.0 AXIN2 Gene migrated from ENSG00000168646 to ENSG00000168646 (gene set migration)
Colorectal Cancer and Polyposis v2.0 APC Gene migrated from ENSG00000134982 to ENSG00000134982 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MBD4 Gene migrated from ENSG00000129071 to ENSG00000129071 (gene set migration)
Colorectal Cancer and Polyposis v2.0 RNF43 Gene migrated from ENSG00000108375 to ENSG00000108375 (gene set migration)
Colorectal Cancer and Polyposis v2.0 MSH3 Gene migrated from ENSG00000113318 to ENSG00000113318 (gene set migration)
Colorectal Cancer and Polyposis v2.0 GREM1 Gene migrated from ENSG00000166923 to ENSG00000166923 (gene set migration)
Colorectal Cancer and Polyposis v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.5
Pancreatic Cancer v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Pancreatic Cancer v2.0 STK11 Gene migrated from ENSG00000118046 to ENSG00000118046 (gene set migration)
Pancreatic Cancer v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Pancreatic Cancer v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Pancreatic Cancer v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Pancreatic Cancer v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Pancreatic Cancer v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Pancreatic Cancer v2.0 EPCAM Gene migrated from ENSG00000119888 to ENSG00000119888 (gene set migration)
Pancreatic Cancer v2.0 CDKN2A Gene migrated from ENSG00000147889 to ENSG00000147889 (gene set migration)
Pancreatic Cancer v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Pancreatic Cancer v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Pancreatic Cancer v2.0 ATM Gene migrated from ENSG00000149311 to ENSG00000149311 (gene set migration)
Pancreatic Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Gastrointestinal Stromal Tumour v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 PDGFRA Gene migrated from ENSG00000134853 to ENSG00000134853 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 KIT Gene migrated from ENSG00000157404 to ENSG00000157404 (gene set migration)
Gastrointestinal Stromal Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.0
Diffuse Gastric Cancer v2.0 CTNNA1 Gene migrated from ENSG00000044115 to ENSG00000044115 (gene set migration)
Diffuse Gastric Cancer v2.0 CDH1 Gene migrated from ENSG00000039068 to ENSG00000039068 (gene set migration)
Diffuse Gastric Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Kidney Cancer v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Kidney Cancer v2.0 PBRM1 Gene migrated from ENSG00000163939 to ENSG00000163939 (gene set migration)
Kidney Cancer v2.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Kidney Cancer v2.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Kidney Cancer v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Kidney Cancer v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Kidney Cancer v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Kidney Cancer v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Kidney Cancer v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Kidney Cancer v2.0 MET Gene migrated from ENSG00000105976 to ENSG00000105976 (gene set migration)
Kidney Cancer v2.0 FLCN Gene migrated from ENSG00000154803 to ENSG00000154803 (gene set migration)
Kidney Cancer v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Kidney Cancer v2.0 BAP1 Gene migrated from ENSG00000163930 to ENSG00000163930 (gene set migration)
Kidney Cancer v2.0 VHL Gene migrated from ENSG00000134086 to ENSG00000134086 (gene set migration)
Kidney Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.12
Wilms Tumour v2.0 CTCF Gene migrated from ENSG00000102974 to ENSG00000102974 (gene set migration)
Wilms Tumour v2.0 PIK3CA Gene migrated from ENSG00000121879 to ENSG00000121879 (gene set migration)
Wilms Tumour v2.0 ASXL1 Gene migrated from ENSG00000171456 to ENSG00000171456 (gene set migration)
Wilms Tumour v2.0 AMER1 Gene migrated from ENSG00000184675 to ENSG00000184675 (gene set migration)
Wilms Tumour v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Wilms Tumour v2.0 CDC73 Gene migrated from ENSG00000134371 to ENSG00000134371 (gene set migration)
Wilms Tumour v2.0 DICER1 Gene migrated from ENSG00000100697 to ENSG00000100697 (gene set migration)
Wilms Tumour v2.0 FBXW7 Gene migrated from ENSG00000109670 to ENSG00000109670 (gene set migration)
Wilms Tumour v2.0 NYNRIN Gene migrated from ENSG00000205978 to ENSG00000205978 (gene set migration)
Wilms Tumour v2.0 BUB1B Gene migrated from ENSG00000156970 to ENSG00000156970 (gene set migration)
Wilms Tumour v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Wilms Tumour v2.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Wilms Tumour v2.0 CTR9 Gene migrated from ENSG00000198730 to ENSG00000198730 (gene set migration)
Wilms Tumour v2.0 REST Gene migrated from ENSG00000084093 to ENSG00000084093 (gene set migration)
Wilms Tumour v2.0 WT1 Gene migrated from ENSG00000184937 to ENSG00000184937 (gene set migration)
Wilms Tumour v2.0 TRIM37 Gene migrated from ENSG00000108395 to ENSG00000108395 (gene set migration)
Wilms Tumour v2.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
Wilms Tumour v2.0 GPC3 Gene migrated from ENSG00000147257 to ENSG00000147257 (gene set migration)
Wilms Tumour v2.0 DIS3L2 Gene migrated from ENSG00000144535 to ENSG00000144535 (gene set migration)
Wilms Tumour v2.0 CDKN1C Gene migrated from ENSG00000129757 to ENSG00000129757 (gene set migration)
Wilms Tumour v2.0 TRIP13 Gene migrated from ENSG00000071539 to ENSG00000071539 (gene set migration)
Wilms Tumour v2.0 TRIM28 Gene migrated from ENSG00000130726 to ENSG00000130726 (gene set migration)
Wilms Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Paraganglioma_phaeochromocytoma v2.0 ISCA-37431-Loss Region ISCA-37431-Loss migrated (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SLC25A11 Gene migrated from ENSG00000108528 to ENSG00000108528 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 MDH2 Gene migrated from ENSG00000146701 to ENSG00000146701 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 EPAS1 Gene migrated from ENSG00000116016 to ENSG00000116016 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 EGLN1 Gene migrated from ENSG00000135766 to ENSG00000135766 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 DLST Gene migrated from ENSG00000119689 to ENSG00000119689 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 VHL Gene migrated from ENSG00000134086 to ENSG00000134086 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 TMEM127 Gene migrated from ENSG00000135956 to ENSG00000135956 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 MAX Gene migrated from ENSG00000125952 to ENSG00000125952 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Paraganglioma_phaeochromocytoma v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.2
Pituitary Tumour v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Pituitary Tumour v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Pituitary Tumour v2.0 AIP Gene migrated from ENSG00000110711 to ENSG00000110711 (gene set migration)
Pituitary Tumour v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Pituitary Tumour v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Pituitary Tumour v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Pituitary Tumour v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Pituitary Tumour v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Pituitary Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Parathyroid Tumour v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Parathyroid Tumour v2.0 MEN1 Gene migrated from ENSG00000133895 to ENSG00000133895 (gene set migration)
Parathyroid Tumour v2.0 GCM2 Gene migrated from ENSG00000124827 to ENSG00000124827 (gene set migration)
Parathyroid Tumour v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Parathyroid Tumour v2.0 CDC73 Gene migrated from ENSG00000134371 to ENSG00000134371 (gene set migration)
Parathyroid Tumour v2.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Parathyroid Tumour v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.2
Thyroid Cancer v2.0 RET Gene migrated from ENSG00000165731 to ENSG00000165731 (gene set migration)
Thyroid Cancer v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Thyroid Cancer v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Thyroid Cancer v2.0 DICER1 Gene migrated from ENSG00000100697 to ENSG00000100697 (gene set migration)
Thyroid Cancer v2.0 CDKN1B Gene migrated from ENSG00000111276 to ENSG00000111276 (gene set migration)
Thyroid Cancer v2.0 APC Gene migrated from ENSG00000134982 to ENSG00000134982 (gene set migration)
Thyroid Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Neuroblastoma v2.0 SMARCA4 Gene migrated from ENSG00000127616 to ENSG00000127616 (gene set migration)
Neuroblastoma v2.0 PHOX2B Gene migrated from ENSG00000109132 to ENSG00000109132 (gene set migration)
Neuroblastoma v2.0 ALK Gene migrated from ENSG00000171094 to ENSG00000171094 (gene set migration)
Neuroblastoma v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Basal Cell Cancer v2.0 ARHGAP36 downstream regulatory region Region ARHGAP36 downstream regulatory region migrated (gene set migration)
Basal Cell Cancer v2.0 PTCH2 Gene migrated from ENSG00000117425 to ENSG00000117425 (gene set migration)
Basal Cell Cancer v2.0 SUFU Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration)
Basal Cell Cancer v2.0 PTCH1 Gene migrated from ENSG00000185920 to ENSG00000185920 (gene set migration)
Basal Cell Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.3
Sarcoma non-soft tissue v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Sarcoma non-soft tissue v2.0 RECQL4 Gene migrated from ENSG00000160957 to ENSG00000160957 (gene set migration)
Sarcoma non-soft tissue v2.0 RB1 Gene migrated from ENSG00000139687 to ENSG00000139687 (gene set migration)
Sarcoma non-soft tissue v2.0 EXT1 Gene migrated from ENSG00000182197 to ENSG00000182197 (gene set migration)
Sarcoma non-soft tissue v2.0 BLM Gene migrated from ENSG00000197299 to ENSG00000197299 (gene set migration)
Sarcoma non-soft tissue v2.0 EXT2 Gene migrated from ENSG00000151348 to ENSG00000151348 (gene set migration)
Sarcoma non-soft tissue v2.0 WRN Gene migrated from ENSG00000165392 to ENSG00000165392 (gene set migration)
Sarcoma non-soft tissue v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Sarcoma soft tissue v2.0 ISCA-37431-Loss Region ISCA-37431-Loss migrated (gene set migration)
Sarcoma soft tissue v2.0 POT1 Gene migrated from ENSG00000128513 to ENSG00000128513 (gene set migration)
Sarcoma soft tissue v2.0 BUB1B Gene migrated from ENSG00000156970 to ENSG00000156970 (gene set migration)
Sarcoma soft tissue v2.0 WRN Gene migrated from ENSG00000165392 to ENSG00000165392 (gene set migration)
Sarcoma soft tissue v2.0 TP53 Gene migrated from ENSG00000141510 to ENSG00000141510 (gene set migration)
Sarcoma soft tissue v2.0 SMARCB1 Gene migrated from ENSG00000099956 to ENSG00000099956 (gene set migration)
Sarcoma soft tissue v2.0 SMARCA4 Gene migrated from ENSG00000127616 to ENSG00000127616 (gene set migration)
Sarcoma soft tissue v2.0 RB1 Gene migrated from ENSG00000139687 to ENSG00000139687 (gene set migration)
Sarcoma soft tissue v2.0 PMS2 Gene migrated from ENSG00000122512 to ENSG00000122512 (gene set migration)
Sarcoma soft tissue v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Sarcoma soft tissue v2.0 NBN Gene migrated from ENSG00000104320 to ENSG00000104320 (gene set migration)
Sarcoma soft tissue v2.0 MSH6 Gene migrated from ENSG00000116062 to ENSG00000116062 (gene set migration)
Sarcoma soft tissue v2.0 MSH2 Gene migrated from ENSG00000095002 to ENSG00000095002 (gene set migration)
Sarcoma soft tissue v2.0 MLH1 Gene migrated from ENSG00000076242 to ENSG00000076242 (gene set migration)
Sarcoma soft tissue v2.0 HRAS Gene migrated from ENSG00000174775 to ENSG00000174775 (gene set migration)
Sarcoma soft tissue v2.0 DICER1 Gene migrated from ENSG00000100697 to ENSG00000100697 (gene set migration)
Sarcoma soft tissue v2.0 BRCA2 Gene migrated from ENSG00000139618 to ENSG00000139618 (gene set migration)
Sarcoma soft tissue v2.0 BRCA1 Gene migrated from ENSG00000012048 to ENSG00000012048 (gene set migration)
Sarcoma soft tissue v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Schwannoma v2.0 SMARCA4 Gene migrated from ENSG00000127616 to ENSG00000127616 (gene set migration)
Schwannoma v2.0 DGCR8 Gene migrated from ENSG00000128191 to ENSG00000128191 (gene set migration)
Schwannoma v2.0 SMARCB1 Gene migrated from ENSG00000099956 to ENSG00000099956 (gene set migration)
Schwannoma v2.0 PRKAR1A Gene migrated from ENSG00000108946 to ENSG00000108946 (gene set migration)
Schwannoma v2.0 NF2 Gene migrated from ENSG00000186575 to ENSG00000186575 (gene set migration)
Schwannoma v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Schwannoma v2.0 LZTR1 Gene migrated from ENSG00000099949 to ENSG00000099949 (gene set migration)
Schwannoma v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Meningioma v2.0 SUFU Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration)
Meningioma v2.0 SMARCE1 Gene migrated from ENSG00000073584 to ENSG00000073584 (gene set migration)
Meningioma v2.0 SMARCB1 Gene migrated from ENSG00000099956 to ENSG00000099956 (gene set migration)
Meningioma v2.0 NF2 Gene migrated from ENSG00000186575 to ENSG00000186575 (gene set migration)
Meningioma v2.0 BAP1 Gene migrated from ENSG00000163930 to ENSG00000163930 (gene set migration)
Meningioma v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Spontaneous coronary artery dissection v1.0 PTGIR Gene migrated from ENSG00000160013 to ENSG00000160013 (gene set migration)
Spontaneous coronary artery dissection v1.0 TSR1 Gene migrated from ENSG00000167721 to ENSG00000167721 (gene set migration)
Spontaneous coronary artery dissection v1.0 LMX1B Gene migrated from ENSG00000136944 to ENSG00000136944 (gene set migration)
Spontaneous coronary artery dissection v1.0 PKD1 Gene migrated from ENSG00000008710 to ENSG00000008710 (gene set migration)
Spontaneous coronary artery dissection v1.0 DROSHA Gene migrated from ENSG00000113360 to ENSG00000113360 (gene set migration)
Spontaneous coronary artery dissection v1.0 TLN1 Gene migrated from ENSG00000137076 to ENSG00000137076 (gene set migration)
Spontaneous coronary artery dissection v1.0 MYLK Gene migrated from ENSG00000065534 to ENSG00000065534 (gene set migration)
Spontaneous coronary artery dissection v1.0 LOX Gene migrated from ENSG00000113083 to ENSG00000113083 (gene set migration)
Spontaneous coronary artery dissection v1.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Spontaneous coronary artery dissection v1.0 TGFBR1 Gene migrated from ENSG00000106799 to ENSG00000106799 (gene set migration)
Spontaneous coronary artery dissection v1.0 YY1AP1 Gene migrated from ENSG00000163374 to ENSG00000163374 (gene set migration)
Spontaneous coronary artery dissection v1.0 FBN1 Gene migrated from ENSG00000166147 to ENSG00000166147 (gene set migration)
Spontaneous coronary artery dissection v1.0 COL5A1 Gene migrated from ENSG00000130635 to ENSG00000130635 (gene set migration)
Spontaneous coronary artery dissection v1.0 TGFBR2 Gene migrated from ENSG00000163513 to ENSG00000163513 (gene set migration)
Spontaneous coronary artery dissection v1.0 SMAD2 Gene migrated from ENSG00000175387 to ENSG00000175387 (gene set migration)
Spontaneous coronary artery dissection v1.0 COL3A1 Gene migrated from ENSG00000168542 to ENSG00000168542 (gene set migration)
Spontaneous coronary artery dissection v1.0 COL4A1 Gene migrated from ENSG00000187498 to ENSG00000187498 (gene set migration)
Spontaneous coronary artery dissection v1.0 TGFB3 Gene migrated from ENSG00000119699 to ENSG00000119699 (gene set migration)
Spontaneous coronary artery dissection v1.0 TGFB2 Gene migrated from ENSG00000092969 to ENSG00000092969 (gene set migration)
Spontaneous coronary artery dissection v1.0 SMAD3 Gene migrated from ENSG00000166949 to ENSG00000166949 (gene set migration)
Spontaneous coronary artery dissection v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.58
Nucleotide metabolism disorders v1.0 TPMT Gene migrated from ENSG00000137364 to ENSG00000137364 (gene set migration)
Nucleotide metabolism disorders v1.0 AGXT2 Gene migrated from ENSG00000113492 to ENSG00000113492 (gene set migration)
Nucleotide metabolism disorders v1.0 AMPD3 Gene migrated from ENSG00000133805 to ENSG00000133805 (gene set migration)
Nucleotide metabolism disorders v1.0 SLC29A1 Gene migrated from ENSG00000112759 to ENSG00000112759 (gene set migration)
Nucleotide metabolism disorders v1.0 AMPD1 Gene migrated from ENSG00000116748 to ENSG00000116748 (gene set migration)
Nucleotide metabolism disorders v1.0 ABCC6 Gene migrated from ENSG00000091262 to ENSG00000091262 (gene set migration)
Nucleotide metabolism disorders v1.0 OAS1 Gene migrated from ENSG00000089127 to ENSG00000089127 (gene set migration)
Nucleotide metabolism disorders v1.0 ENPP1 Gene migrated from ENSG00000197594 to ENSG00000197594 (gene set migration)
Nucleotide metabolism disorders v1.0 GUK1 Gene migrated from ENSG00000143774 to ENSG00000143774 (gene set migration)
Nucleotide metabolism disorders v1.0 IFIH1 Gene migrated from ENSG00000115267 to ENSG00000115267 (gene set migration)
Nucleotide metabolism disorders v1.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Nucleotide metabolism disorders v1.0 SAMHD1 Gene migrated from ENSG00000101347 to ENSG00000101347 (gene set migration)
Nucleotide metabolism disorders v1.0 RNASET2 Gene migrated from ENSG00000026297 to ENSG00000026297 (gene set migration)
Nucleotide metabolism disorders v1.0 RNASEH2A Gene migrated from ENSG00000104889 to ENSG00000104889 (gene set migration)
Nucleotide metabolism disorders v1.0 RNASEH2C Gene migrated from ENSG00000172922 to ENSG00000172922 (gene set migration)
Nucleotide metabolism disorders v1.0 RNASEH2B Gene migrated from ENSG00000136104 to ENSG00000136104 (gene set migration)
Nucleotide metabolism disorders v1.0 TREX1 Gene migrated from ENSG00000213689 to ENSG00000213689 (gene set migration)
Nucleotide metabolism disorders v1.0 SLC2A9 Gene migrated from ENSG00000109667 to ENSG00000109667 (gene set migration)
Nucleotide metabolism disorders v1.0 SLC22A12 Gene migrated from ENSG00000197891 to ENSG00000197891 (gene set migration)
Nucleotide metabolism disorders v1.0 ITPA Gene migrated from ENSG00000125877 to ENSG00000125877 (gene set migration)
Nucleotide metabolism disorders v1.0 IMPDH1 Gene migrated from ENSG00000106348 to ENSG00000106348 (gene set migration)
Nucleotide metabolism disorders v1.0 AK2 Gene migrated from ENSG00000004455 to ENSG00000004455 (gene set migration)
Nucleotide metabolism disorders v1.0 AK1 Gene migrated from ENSG00000106992 to ENSG00000106992 (gene set migration)
Nucleotide metabolism disorders v1.0 APRT Gene migrated from ENSG00000198931 to ENSG00000198931 (gene set migration)
Nucleotide metabolism disorders v1.0 HPRT1 Gene migrated from ENSG00000165704 to ENSG00000165704 (gene set migration)
Nucleotide metabolism disorders v1.0 XDH Gene migrated from ENSG00000158125 to ENSG00000158125 (gene set migration)
Nucleotide metabolism disorders v1.0 PNP Gene migrated from ENSG00000198805 to ENSG00000198805 (gene set migration)
Nucleotide metabolism disorders v1.0 ADA2 Gene migrated from ENSG00000093072 to ENSG00000093072 (gene set migration)
Nucleotide metabolism disorders v1.0 ADA Gene migrated from ENSG00000196839 to ENSG00000196839 (gene set migration)
Nucleotide metabolism disorders v1.0 AMPD2 Gene migrated from ENSG00000116337 to ENSG00000116337 (gene set migration)
Nucleotide metabolism disorders v1.0 DPYS Gene migrated from ENSG00000147647 to ENSG00000147647 (gene set migration)
Nucleotide metabolism disorders v1.0 UPB1 Gene migrated from ENSG00000100024 to ENSG00000100024 (gene set migration)
Nucleotide metabolism disorders v1.0 SLC29A3 Gene migrated from ENSG00000198246 to ENSG00000198246 (gene set migration)
Nucleotide metabolism disorders v1.0 DPYD Gene migrated from ENSG00000188641 to ENSG00000188641 (gene set migration)
Nucleotide metabolism disorders v1.0 NT5E Gene migrated from ENSG00000135318 to ENSG00000135318 (gene set migration)
Nucleotide metabolism disorders v1.0 ADSL Gene migrated from ENSG00000239900 to ENSG00000239900 (gene set migration)
Nucleotide metabolism disorders v1.0 PRPS1 Gene migrated from ENSG00000147224 to ENSG00000147224 (gene set migration)
Nucleotide metabolism disorders v1.0 UNG Gene migrated from ENSG00000076248 to ENSG00000076248 (gene set migration)
Nucleotide metabolism disorders v1.0 AICDA Gene migrated from ENSG00000111732 to ENSG00000111732 (gene set migration)
Nucleotide metabolism disorders v1.0 NT5C3A Gene migrated from ENSG00000122643 to ENSG00000122643 (gene set migration)
Nucleotide metabolism disorders v1.0 UMPS Gene migrated from ENSG00000114491 to ENSG00000114491 (gene set migration)
Nucleotide metabolism disorders v1.0 CAD Gene migrated from ENSG00000084774 to ENSG00000084774 (gene set migration)
Nucleotide metabolism disorders v1.0 DHODH Gene migrated from ENSG00000102967 to ENSG00000102967 (gene set migration)
Nucleotide metabolism disorders v1.0 STING1 Gene symbol changed from TMEM173 to STING1 during gene set migration (ENSG00000184584 -> ENSG00000184584)
Nucleotide metabolism disorders v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.8
Speech apraxia v2.0 CUX1 Gene migrated from ENSG00000257923 to ENSG00000257923 (gene set migration)
Speech apraxia v2.0 KCND3 Gene migrated from ENSG00000171385 to ENSG00000171385 (gene set migration)
Speech apraxia v2.0 CAMK2A Gene migrated from ENSG00000070808 to ENSG00000070808 (gene set migration)
Speech apraxia v2.0 NSD1 Gene migrated from ENSG00000165671 to ENSG00000165671 (gene set migration)
Speech apraxia v2.0 ADGRL1 Gene migrated from ENSG00000072071 to ENSG00000072071 (gene set migration)
Speech apraxia v2.0 FBXW7 Gene migrated from ENSG00000109670 to ENSG00000109670 (gene set migration)
Speech apraxia v2.0 ARHGEF9 Gene migrated from ENSG00000131089 to ENSG00000131089 (gene set migration)
Speech apraxia v2.0 GNB1 Gene migrated from ENSG00000078369 to ENSG00000078369 (gene set migration)
Speech apraxia v2.0 ZBTB18 Gene migrated from ENSG00000179456 to ENSG00000179456 (gene set migration)
Speech apraxia v2.0 TAOK2 Gene migrated from ENSG00000149930 to ENSG00000149930 (gene set migration)
Speech apraxia v2.0 TRIP12 Gene migrated from ENSG00000153827 to ENSG00000153827 (gene set migration)
Speech apraxia v2.0 SPAST Gene migrated from ENSG00000021574 to ENSG00000021574 (gene set migration)
Speech apraxia v2.0 SETD1B Gene migrated from ENSG00000139718 to ENSG00000139718 (gene set migration)
Speech apraxia v2.0 PURA Gene migrated from ENSG00000185129 to ENSG00000185129 (gene set migration)
Speech apraxia v2.0 UPF2 Gene migrated from ENSG00000151461 to ENSG00000151461 (gene set migration)
Speech apraxia v2.0 POGZ Gene migrated from ENSG00000143442 to ENSG00000143442 (gene set migration)
Speech apraxia v2.0 ZFHX4 Gene migrated from ENSG00000091656 to ENSG00000091656 (gene set migration)
Speech apraxia v2.0 ANK2 Gene migrated from ENSG00000145362 to ENSG00000145362 (gene set migration)
Speech apraxia v2.0 BPTF Gene migrated from ENSG00000171634 to ENSG00000171634 (gene set migration)
Speech apraxia v2.0 HNRNPK Gene migrated from ENSG00000165119 to ENSG00000165119 (gene set migration)
Speech apraxia v2.0 PHF21A Gene migrated from ENSG00000135365 to ENSG00000135365 (gene set migration)
Speech apraxia v2.0 MRTFB Gene symbol changed from MKL2 to MRTFB during gene set migration (ENSG00000186260 -> ENSG00000186260)
Speech apraxia v2.0 SHANK3 Gene migrated from ENSG00000251322 to ENSG00000251322 (gene set migration)
Speech apraxia v2.0 RBFOX3 Gene migrated from ENSG00000167281 to ENSG00000167281 (gene set migration)
Speech apraxia v2.0 ERF Gene migrated from ENSG00000105722 to ENSG00000105722 (gene set migration)
Speech apraxia v2.0 ZNF142 Gene migrated from ENSG00000115568 to ENSG00000115568 (gene set migration)
Speech apraxia v2.0 MEIS2 Gene migrated from ENSG00000134138 to ENSG00000134138 (gene set migration)
Speech apraxia v2.0 GNAO1 Gene migrated from ENSG00000087258 to ENSG00000087258 (gene set migration)
Speech apraxia v2.0 DIP2C Gene migrated from ENSG00000151240 to ENSG00000151240 (gene set migration)
Speech apraxia v2.0 WDR5 Gene migrated from ENSG00000196363 to ENSG00000196363 (gene set migration)
Speech apraxia v2.0 TNRC6B Gene migrated from ENSG00000100354 to ENSG00000100354 (gene set migration)
Speech apraxia v2.0 EBF3 Gene migrated from ENSG00000108001 to ENSG00000108001 (gene set migration)
Speech apraxia v2.0 CACNA1A Gene migrated from ENSG00000141837 to ENSG00000141837 (gene set migration)
Speech apraxia v2.0 DDX3X Gene migrated from ENSG00000215301 to ENSG00000215301 (gene set migration)
Speech apraxia v2.0 CDK13 Gene migrated from ENSG00000065883 to ENSG00000065883 (gene set migration)
Speech apraxia v2.0 BRPF1 Gene migrated from ENSG00000156983 to ENSG00000156983 (gene set migration)
Speech apraxia v2.0 KAT6A Gene migrated from ENSG00000083168 to ENSG00000083168 (gene set migration)
Speech apraxia v2.0 CHD3 Gene migrated from ENSG00000170004 to ENSG00000170004 (gene set migration)
Speech apraxia v2.0 SETD1A Gene migrated from ENSG00000099381 to ENSG00000099381 (gene set migration)
Speech apraxia v2.0 CAMTA1 Gene migrated from ENSG00000171735 to ENSG00000171735 (gene set migration)
Speech apraxia v2.0 KDM5C Gene migrated from ENSG00000126012 to ENSG00000126012 (gene set migration)
Speech apraxia v2.0 SCN8A Gene migrated from ENSG00000196876 to ENSG00000196876 (gene set migration)
Speech apraxia v2.0 PPP2R5D Gene migrated from ENSG00000112640 to ENSG00000112640 (gene set migration)
Speech apraxia v2.0 FOXP1 Gene migrated from ENSG00000114861 to ENSG00000114861 (gene set migration)
Speech apraxia v2.0 SET Gene migrated from ENSG00000119335 to ENSG00000119335 (gene set migration)
Speech apraxia v2.0 GNAI1 Gene migrated from ENSG00000127955 to ENSG00000127955 (gene set migration)