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Joubert syndrome and other neurological ciliopathies v0.133 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010
Joubert syndrome and other neurological ciliopathies v0.132 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Joubert syndrome and other neurological ciliopathies v0.131 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.130 NPHP3 Zornitza Stark Classified gene: NPHP3 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.130 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.129 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18371931; Phenotypes: Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.129 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Joubert syndrome and other neurological ciliopathies v0.129 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.129 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583
Joubert syndrome and other neurological ciliopathies v0.128 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Joubert syndrome and other neurological ciliopathies v0.127 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.126 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138899, 32139166, 28347285; Phenotypes: Joubert syndrome 4, MIM# 609583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3541 INPP4A Zornitza Stark Marked gene: INPP4A as ready
Intellectual disability syndromic and non-syndromic v0.3541 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3541 INPP4A Zornitza Stark Classified gene: INPP4A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3541 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3540 INPP4A Zornitza Stark gene: INPP4A was added
gene: INPP4A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to 31978615; 31938306; 25338135; 20011524
Phenotypes for gene: INPP4A were set to Intellectual disability
Review for gene: INPP4A was set to AMBER
Added comment: Two families reported with bi-allelic variants and a neurological phenotype. Supportive mouse model and expression data.
Sources: Literature
Mendeliome v0.6811 INPP4A Zornitza Stark Marked gene: INPP4A as ready
Mendeliome v0.6811 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6811 INPP4A Zornitza Stark Classified gene: INPP4A as Amber List (moderate evidence)
Mendeliome v0.6811 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6810 INPP4A Zornitza Stark gene: INPP4A was added
gene: INPP4A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to 31978615; 31938306; 25338135; 20011524
Phenotypes for gene: INPP4A were set to Intellectual disability
Review for gene: INPP4A was set to AMBER
Added comment: Two families reported with bi-allelic variants and a neurological phenotype. Supportive mouse model and expression data.
Sources: Literature
Ataxia v0.274 Zornitza Stark removed gene:SATB1 from the panel
Intellectual disability syndromic and non-syndromic v0.3539 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Kohlschutter-Tonz syndrome-like, MIM# 619229; Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Intellectual disability syndromic and non-syndromic v0.3538 SATB1 Zornitza Stark edited their review of gene: SATB1: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.3538 SATB1 Zornitza Stark edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.

Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, often with abnormal dentition and nonspecific visual defects, such as myopia, astigmatism, and strabismus. Although rare, involvement of other systems, such as skeletal, cardiac, and gastrointestinal, may be present. 12 individuals from 11 families reported (one inherited variant, affected parent).; Changed phenotypes: Kohlschutter-Tonz syndrome-like, MIM# 619229, Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228, Developmental disorders
Regression v0.259 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; regression
Regression v0.258 SATB1 Zornitza Stark changed review comment from: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.; to: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.

Note Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228 is a milder, allelic disorder.
Regression v0.258 SATB1 Zornitza Stark edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.; Changed phenotypes: Kohlschutter-Tonz syndrome-like, MIM# 619229
Genetic Epilepsy v0.1045 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression
Genetic Epilepsy v0.1044 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression
Genetic Epilepsy v0.1044 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression
Genetic Epilepsy v0.1043 SATB1 Zornitza Stark edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.

Note Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228 is a milder, allelic disorder.; Changed phenotypes: Kohlschutter-Tonz syndrome-like, MIM# 619229
Mendeliome v0.6809 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Kohlschutter-Tonz syndrome-like, MIM# 619229; Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Mendeliome v0.6808 SATB1 Zornitza Stark edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.; Changed phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228, Kohlschutter-Tonz syndrome-like, MIM# 619229
Mendeliome v0.6808 SATB1 Zornitza Stark edited their review of gene: SATB1: Changed publications: 33513338
Mendeliome v0.6808 SATB1 Zornitza Stark commented on gene: SATB1: Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, often with abnormal dentition and nonspecific visual defects, such as myopia, astigmatism, and strabismus. Although rare, involvement of other systems, such as skeletal, cardiac, and gastrointestinal, may be present. 12 individuals from 11 families reported (one inherited variant, affected parent).
Ataxia v0.273 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia
Ataxia v0.272 SATB1 Zornitza Stark reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3538 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Intellectual disability syndromic and non-syndromic v0.3537 SATB1 Zornitza Stark edited their review of gene: SATB1: Changed phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228, Developmental disorders
Regression v0.258 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; regression to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; regression
Regression v0.257 SATB1 Zornitza Stark reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1043 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression
Genetic Epilepsy v0.1042 SATB1 Zornitza Stark reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6808 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Mendeliome v0.6807 SATB1 Zornitza Stark Publications for gene: SATB1 were set to 33057194
Mendeliome v0.6806 SATB1 Zornitza Stark Mode of pathogenicity for gene: SATB1 was changed from None to Other
Mendeliome v0.6805 SATB1 Zornitza Stark reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6805 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Mendeliome v0.6805 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Mendeliome v0.6805 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Mendeliome v0.6804 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Mendeliome v0.6803 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6802 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.1 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Bardet-Biedl syndrome 13, MIM# 615990 to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Ciliopathies v0.249 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Ciliopathies v0.249 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Ciliopathies v0.249 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Ciliopathies v0.248 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Ciliopathies v0.247 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.246 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.0 MKS1 Zornitza Stark edited their review of gene: MKS1: Changed phenotypes: Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441
Joubert syndrome and other neurological ciliopathies v0.126 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Joubert syndrome and other neurological ciliopathies v0.126 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.126 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571
Joubert syndrome and other neurological ciliopathies v0.125 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Joubert syndrome and other neurological ciliopathies v0.124 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.123 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.58 FLII Zornitza Stark Marked gene: FLII as ready
Cardiomyopathy_Paediatric v0.58 FLII Zornitza Stark Gene: flii has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.58 FLII Zornitza Stark Classified gene: FLII as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.58 FLII Zornitza Stark Gene: flii has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.57 FLII Zornitza Stark gene: FLII was added
gene: FLII was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 32870709
Phenotypes for gene: FLII were set to Dilated cardiomyopathy
Review for gene: FLII was set to AMBER
Added comment: Two unrelated families reported with homozygous missense variants. Emerging evidence.
Sources: Literature
Mendeliome v0.6802 FLII Zornitza Stark Marked gene: FLII as ready
Mendeliome v0.6802 FLII Zornitza Stark Gene: flii has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6802 FLII Zornitza Stark Classified gene: FLII as Amber List (moderate evidence)
Mendeliome v0.6802 FLII Zornitza Stark Gene: flii has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6801 FLII Zornitza Stark gene: FLII was added
gene: FLII was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 32870709
Phenotypes for gene: FLII were set to Dilated cardiomyopathy
Review for gene: FLII was set to AMBER
Added comment: Two unrelated families reported with homozygous missense variants. Emerging evidence.
Sources: Literature
Cardiomyopathy_Paediatric v0.56 RHBDF1 Zornitza Stark Marked gene: RHBDF1 as ready
Cardiomyopathy_Paediatric v0.56 RHBDF1 Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.56 RHBDF1 Zornitza Stark Classified gene: RHBDF1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.56 RHBDF1 Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.55 RHBDF1 Zornitza Stark gene: RHBDF1 was added
gene: RHBDF1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHBDF1 were set to 32870709
Phenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy
Review for gene: RHBDF1 was set to AMBER
Added comment: Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant.
Sources: Literature
Mendeliome v0.6800 RHBDF1 Zornitza Stark Marked gene: RHBDF1 as ready
Mendeliome v0.6800 RHBDF1 Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6800 RHBDF1 Zornitza Stark Classified gene: RHBDF1 as Amber List (moderate evidence)
Mendeliome v0.6800 RHBDF1 Zornitza Stark Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6799 RHBDF1 Zornitza Stark gene: RHBDF1 was added
gene: RHBDF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHBDF1 were set to 32870709
Phenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy
Review for gene: RHBDF1 was set to AMBER
Added comment: Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant.
Sources: Literature
Dilated Cardiomyopathy v0.101 Zornitza Stark removed gene:MYLK3 from the panel
Dilated Cardiomyopathy v0.100 Zornitza Stark removed gene:NRAP from the panel
Dilated Cardiomyopathy v0.99 MYLK3 Zornitza Stark Marked gene: MYLK3 as ready
Dilated Cardiomyopathy v0.99 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.99 MYLK3 Zornitza Stark Classified gene: MYLK3 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.99 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.98 MYLK3 Zornitza Stark gene: MYLK3 was added
gene: MYLK3 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709
Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy
Review for gene: MYLK3 was set to AMBER
Added comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: Literature
Cardiomyopathy_Paediatric v0.54 MYLK3 Zornitza Stark Marked gene: MYLK3 as ready
Cardiomyopathy_Paediatric v0.54 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.54 MYLK3 Zornitza Stark Classified gene: MYLK3 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.54 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.53 MYLK3 Zornitza Stark gene: MYLK3 was added
gene: MYLK3 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709
Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy
Review for gene: MYLK3 was set to AMBER
Added comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: Literature
Mendeliome v0.6798 MYLK3 Zornitza Stark Marked gene: MYLK3 as ready
Mendeliome v0.6798 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6798 MYLK3 Zornitza Stark Classified gene: MYLK3 as Amber List (moderate evidence)
Mendeliome v0.6798 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6797 MYLK3 Zornitza Stark gene: MYLK3 was added
gene: MYLK3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709
Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy
Review for gene: MYLK3 was set to AMBER
Added comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: Literature
Cardiomyopathy_Paediatric v0.52 NRAP Zornitza Stark Marked gene: NRAP as ready
Cardiomyopathy_Paediatric v0.52 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.52 NRAP Zornitza Stark Classified gene: NRAP as Green List (high evidence)
Cardiomyopathy_Paediatric v0.52 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.51 NRAP Zornitza Stark gene: NRAP was added
gene: NRAP was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709
Phenotypes for gene: NRAP were set to Dilated cardiomyopathy
Review for gene: NRAP was set to GREEN
Added comment: Twenty unrelated families reported with childhood onset DCM.
Sources: Literature
Dilated Cardiomyopathy v0.97 NRAP Zornitza Stark Marked gene: NRAP as ready
Dilated Cardiomyopathy v0.97 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.97 NRAP Zornitza Stark Classified gene: NRAP as Green List (high evidence)
Dilated Cardiomyopathy v0.97 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.96 NRAP Zornitza Stark gene: NRAP was added
gene: NRAP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709
Phenotypes for gene: NRAP were set to Dilated cardiomyopathy
Review for gene: NRAP was set to GREEN
Added comment: Twenty unrelated families reported with childhood onset DCM.
Sources: Literature
Mendeliome v0.6796 NRAP Zornitza Stark Marked gene: NRAP as ready
Mendeliome v0.6796 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Mendeliome v0.6796 NRAP Zornitza Stark Classified gene: NRAP as Green List (high evidence)
Mendeliome v0.6796 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Mendeliome v0.6795 NRAP Zornitza Stark gene: NRAP was added
gene: NRAP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709
Phenotypes for gene: NRAP were set to Dilated cardiomyopathy
Review for gene: NRAP was set to GREEN
Added comment: Twenty unrelated families reported with childhood onset DCM.
Sources: Literature
Phagocyte Defects v0.46 MPEG1 Zornitza Stark Marked gene: MPEG1 as ready
Phagocyte Defects v0.46 MPEG1 Zornitza Stark Gene: mpeg1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.46 MPEG1 Zornitza Stark Classified gene: MPEG1 as Green List (high evidence)
Phagocyte Defects v0.46 MPEG1 Zornitza Stark Gene: mpeg1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.45 MPEG1 Zornitza Stark gene: MPEG1 was added
gene: MPEG1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: MPEG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MPEG1 were set to 33224153; 33692780; 28422754
Phenotypes for gene: MPEG1 were set to Immunodeficiency 77, MIM# 619223
Review for gene: MPEG1 was set to GREEN
Added comment: Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus.

Four individuals reported, functional data, including animal model.
Sources: Expert list
Mendeliome v0.6794 MPEG1 Zornitza Stark Marked gene: MPEG1 as ready
Mendeliome v0.6794 MPEG1 Zornitza Stark Gene: mpeg1 has been classified as Green List (High Evidence).
Mendeliome v0.6794 MPEG1 Zornitza Stark Classified gene: MPEG1 as Green List (high evidence)
Mendeliome v0.6794 MPEG1 Zornitza Stark Gene: mpeg1 has been classified as Green List (High Evidence).
Mendeliome v0.6793 MPEG1 Zornitza Stark gene: MPEG1 was added
gene: MPEG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MPEG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MPEG1 were set to 33224153; 33692780; 28422754
Phenotypes for gene: MPEG1 were set to Immunodeficiency 77, MIM# 619223
Review for gene: MPEG1 was set to GREEN
Added comment: Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus.

Four individuals reported, functional data, including animal model.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.123 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Joubert syndrome and other neurological ciliopathies v0.123 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.123 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Joubert syndrome 12, MIM# 200990; Acrocallosal syndrome, MIM# 200990; MONDO:0008708; Hydrolethalus syndrome 2, MIM# 614120
Joubert syndrome and other neurological ciliopathies v0.122 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Joubert syndrome and other neurological ciliopathies v0.121 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.120 KIF7 Zornitza Stark reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21552264, 21633164, 19666503, 30445565, 26648833, 26349186, 26174511, 25714560; Phenotypes: Joubert syndrome 12, MIM# 200990, Acrocallosal syndrome, MIM# 200990, MONDO:0008708, Hydrolethalus syndrome 2, MIM# 614120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.257 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Regression v0.257 INPP5E Zornitza Stark Gene: inpp5e has been classified as Red List (Low Evidence).
Regression v0.257 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Regression v0.256 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Regression v0.255 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.254 INPP5E Zornitza Stark Classified gene: INPP5E as Red List (low evidence)
Regression v0.254 INPP5E Zornitza Stark Gene: inpp5e has been classified as Red List (Low Evidence).
Regression v0.253 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: RED; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3537 INPP5E Zornitza Stark Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686
Intellectual disability syndromic and non-syndromic v0.3536 INPP5E Zornitza Stark edited their review of gene: INPP5E: Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215
Mendeliome v0.6792 INPP5E Zornitza Stark Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686
Mendeliome v0.6791 INPP5E Zornitza Stark edited their review of gene: INPP5E: Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215
Ciliopathies v0.246 INPP5E Zornitza Stark edited their review of gene: INPP5E: Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215
Ciliopathies v0.246 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Ciliopathies v0.246 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.134 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Renal Ciliopathies and Nephronophthisis v0.134 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.134 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944
Renal Ciliopathies and Nephronophthisis v0.133 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Ciliopathies v0.246 INPP5E Zornitza Stark Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686
Renal Ciliopathies and Nephronophthisis v0.132 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.131 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3536 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Intellectual disability syndromic and non-syndromic v0.3536 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3536 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Intellectual disability syndromic and non-syndromic v0.3535 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Intellectual disability syndromic and non-syndromic v0.3534 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3533 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6791 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Mendeliome v0.6791 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Mendeliome v0.6791 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Mendeliome v0.6790 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Mendeliome v0.6789 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6788 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.245 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Ciliopathies v0.244 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Ciliopathies v0.243 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.242 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.120 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Joubert syndrome and other neurological ciliopathies v0.120 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.120 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944
Joubert syndrome and other neurological ciliopathies v0.119 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Joubert syndrome and other neurological ciliopathies v0.118 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.117 INPP5E Zornitza Stark edited their review of gene: INPP5E: Changed phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944
Joubert syndrome and other neurological ciliopathies v0.117 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.57 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Skeletal Ciliopathies v0.56 CSPP1 Zornitza Stark edited their review of gene: CSPP1: Changed phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288
Skeletal Dysplasia_Fetal v0.52 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Skeletal Dysplasia_Fetal v0.52 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.52 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Skeletal Dysplasia_Fetal v0.51 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Skeletal Dysplasia_Fetal v0.50 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.49 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.131 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Renal Ciliopathies and Nephronophthisis v0.131 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.131 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Regression v0.253 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Regression v0.253 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Red List (Low Evidence).
Regression v0.253 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Regression v0.252 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Regression v0.251 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.250 CSPP1 Zornitza Stark Classified gene: CSPP1 as Red List (low evidence)
Regression v0.250 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Red List (Low Evidence).
Regression v0.249 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: RED; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.130 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Renal Ciliopathies and Nephronophthisis v0.129 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.186 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Polydactyly v0.186 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Polydactyly v0.186 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Renal Ciliopathies and Nephronophthisis v0.128 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.185 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Polydactyly v0.184 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3533 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Intellectual disability syndromic and non-syndromic v0.3533 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3533 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Intellectual disability syndromic and non-syndromic v0.3532 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Intellectual disability syndromic and non-syndromic v0.3531 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3530 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6788 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Mendeliome v0.6788 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Mendeliome v0.6788 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Mendeliome v0.6787 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Mendeliome v0.6786 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6785 CSPP1 Zornitza Stark changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.
Ciliopathies v0.242 CSPP1 Zornitza Stark changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.
Mendeliome v0.6785 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.117 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Ciliopathies v0.242 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Ciliopathies v0.242 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Ciliopathies v0.242 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Ciliopathies v0.241 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636
Ciliopathies v0.240 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Ciliopathies v0.239 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.238 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.116 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Joubert syndrome and other neurological ciliopathies v0.116 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.116 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636
Joubert syndrome and other neurological ciliopathies v0.115 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Joubert syndrome and other neurological ciliopathies v0.114 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.113 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6785 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Mendeliome v0.6785 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Mendeliome v0.6785 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Mendeliome v0.6784 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Mendeliome v0.6783 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6782 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.238 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Ciliopathies v0.238 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Ciliopathies v0.238 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Ciliopathies v0.237 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Ciliopathies v0.236 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.235 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.113 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Joubert syndrome and other neurological ciliopathies v0.113 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.113 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Joubert syndrome and other neurological ciliopathies v0.112 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Joubert syndrome and other neurological ciliopathies v0.111 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.110 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6782 SCA1 Bryony Thompson Marked STR: SCA1 as ready
Mendeliome v0.6782 SCA1 Bryony Thompson Str: sca1 has been classified as Green List (High Evidence).
Mendeliome v0.6782 SCA1 Bryony Thompson edited their review of STR: SCA1: Changed rating: GREEN
Mendeliome v0.6782 SCA1 Bryony Thompson Classified STR: SCA1 as Green List (high evidence)
Mendeliome v0.6782 SCA1 Bryony Thompson Str: sca1 has been classified as Green List (High Evidence).
Mendeliome v0.6781 SCA1 Bryony Thompson STR: SCA1 was added
STR: SCA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA1 were set to 29325606; 20301363
Phenotypes for STR: SCA1 were set to Spinocerebellar ataxia 1 MIM#164400
STR: SCA1 was marked as clinically relevant
Added comment: NM_000332.3:c.589_591CAG[X]
Toxic protein aggregation is mechanism of disease
Normal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions
Mutable normal (intermediate): 36-38 CAG repeats without CAT interruptions
Full-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs
Sources: Expert list
Mendeliome v0.6780 ATXN1 Bryony Thompson Classified gene: ATXN1 as No list
Mendeliome v0.6780 ATXN1 Bryony Thompson Gene: atxn1 has been removed from the panel.
Defects of intrinsic and innate immunity v0.65 RANBP2 Bryony Thompson Marked gene: RANBP2 as ready
Defects of intrinsic and innate immunity v0.65 RANBP2 Bryony Thompson Gene: ranbp2 has been classified as Green List (High Evidence).
Mendeliome v0.6779 RANBP2 Bryony Thompson Marked gene: RANBP2 as ready
Mendeliome v0.6779 RANBP2 Bryony Thompson Gene: ranbp2 has been classified as Green List (High Evidence).
Mendeliome v0.6779 RANBP2 Bryony Thompson reviewed gene: RANBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118815, 25128471, 25522933, 32048120; Phenotypes: {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.65 RANBP2 Bryony Thompson Classified gene: RANBP2 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.65 RANBP2 Bryony Thompson Gene: ranbp2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.64 RANBP2 Bryony Thompson gene: RANBP2 was added
gene: RANBP2 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RANBP2 were set to 19118815; 25128471; 25522933; 32048120
Phenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Review for gene: RANBP2 was set to GREEN
Added comment: >3 unrelated cases reported, many with the same variant which was shown to arise independently and not a founder mutation.
Sources: Expert list
Defects of intrinsic and innate immunity v0.63 NBAS Bryony Thompson Marked gene: NBAS as ready
Defects of intrinsic and innate immunity v0.63 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.63 NBAS Bryony Thompson Classified gene: NBAS as Green List (high evidence)
Defects of intrinsic and innate immunity v0.63 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.66 Bryony Thompson removed gene:NBAS from the panel
Defects of intrinsic and innate immunity v0.62 NBAS Bryony Thompson gene: NBAS was added
gene: NBAS was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 26073778; 26286438; 33042920
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800; Infantile liver failure syndrome 2 MIM#616483
Review for gene: NBAS was set to GREEN
Added comment: Immunological abnormalities (characterized by hypogammaglobulinemia, low T-cells, and near-absent B-cells) leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients
Sources: Expert list
Defects of intrinsic and innate immunity v0.61 PSEN1 Bryony Thompson Classified gene: PSEN1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.61 PSEN1 Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.60 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 20929727; 32048120; 33333507; 30544224
Phenotypes for gene: PSEN1 were set to ?Acne inversa, familial, 3 MIM#613737
Review for gene: PSEN1 was set to GREEN
Added comment: 4 families (1 with segregation data) with 3 putative loss of function variants, and supporting functional assays demonstrating that loss of function is the mechanism of disease (unlike dominant-negative variants that cause Alzheimer's disease).
Sources: Expert list
Mendeliome v0.6779 NCSTN Bryony Thompson Marked gene: NCSTN as ready
Mendeliome v0.6779 NCSTN Bryony Thompson Gene: ncstn has been classified as Green List (High Evidence).
Mendeliome v0.6779 NCSTN Bryony Thompson reviewed gene: NCSTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20929727, 21412258, 32048120; Phenotypes: Acne inversa, familial, 1 MIM#142690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.59 NCSTN Bryony Thompson Marked gene: NCSTN as ready
Defects of intrinsic and innate immunity v0.59 NCSTN Bryony Thompson Gene: ncstn has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.59 NCSTN Bryony Thompson Classified gene: NCSTN as Green List (high evidence)
Defects of intrinsic and innate immunity v0.59 NCSTN Bryony Thompson Gene: ncstn has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.58 NCSTN Bryony Thompson gene: NCSTN was added
gene: NCSTN was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NCSTN were set to 20929727; 21412258; 32048120
Phenotypes for gene: NCSTN were set to Acne inversa, familial, 1 MIM#142690
Review for gene: NCSTN was set to GREEN
Added comment: >3 families reported with acne inversa (also known as hidradenitis suppurativa)
Sources: Expert list
Mendeliome v0.6779 PSENEN Bryony Thompson Marked gene: PSENEN as ready
Mendeliome v0.6779 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Mendeliome v0.6779 PSENEN Bryony Thompson Phenotypes for gene: PSENEN were changed from to Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736
Mendeliome v0.6778 PSENEN Bryony Thompson Publications for gene: PSENEN were set to
Mendeliome v0.6777 PSENEN Bryony Thompson Mode of inheritance for gene: PSENEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6776 PSENEN Bryony Thompson reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20929727, 21412258, 27900998; Phenotypes: Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.57 PSENEN Bryony Thompson Marked gene: PSENEN as ready
Defects of intrinsic and innate immunity v0.57 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.57 PSENEN Bryony Thompson Classified gene: PSENEN as Green List (high evidence)
Defects of intrinsic and innate immunity v0.57 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.56 PSENEN Bryony Thompson changed review comment from: >3 cases reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition
Sources: Expert list; to: >3 families reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition
Sources: Expert list
Defects of intrinsic and innate immunity v0.56 PSENEN Bryony Thompson gene: PSENEN was added
gene: PSENEN was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSENEN were set to 20929727; 21412258; 27900998; 32048120
Phenotypes for gene: PSENEN were set to Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736
Review for gene: PSENEN was set to GREEN
Added comment: >3 cases reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition
Sources: Expert list
Defects of intrinsic and innate immunity v0.55 TNFSF11 Bryony Thompson Marked gene: TNFSF11 as ready
Defects of intrinsic and innate immunity v0.55 TNFSF11 Bryony Thompson Gene: tnfsf11 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.55 TNFSF11 Bryony Thompson Classified gene: TNFSF11 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.55 TNFSF11 Bryony Thompson Gene: tnfsf11 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.54 TNFSF11 Bryony Thompson gene: TNFSF11 was added
gene: TNFSF11 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF11 were set to 17632511; 32048120; 10984520
Phenotypes for gene: TNFSF11 were set to Osteoperosis, autosomal recessive 2 MIM#259710
Review for gene: TNFSF11 was set to GREEN
Added comment: >3 cases reported with osteoclast poor osteoporosis, and a supporting null mouse model.
Sources: Expert list
Defects of intrinsic and innate immunity v0.53 SNX10 Bryony Thompson Marked gene: SNX10 as ready
Defects of intrinsic and innate immunity v0.53 SNX10 Bryony Thompson Gene: snx10 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.53 SNX10 Bryony Thompson Classified gene: SNX10 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.53 SNX10 Bryony Thompson Gene: snx10 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.52 SNX10 Bryony Thompson gene: SNX10 was added
gene: SNX10 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX10 were set to 22499339; 23123320; 30885997; 32048120; 32278070
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 MIM#615085
Review for gene: SNX10 was set to GREEN
Added comment: >3 cases reported and supporting knock-in homozygous mouse model. Impaired osteoclast function is the cause of the condition.
Sources: Expert list
Defects of intrinsic and innate immunity v0.51 OSTM1 Bryony Thompson Marked gene: OSTM1 as ready
Defects of intrinsic and innate immunity v0.51 OSTM1 Bryony Thompson Gene: ostm1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.51 OSTM1 Bryony Thompson Classified gene: OSTM1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.51 OSTM1 Bryony Thompson Gene: ostm1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.50 OSTM1 Bryony Thompson gene: OSTM1 was added
gene: OSTM1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSTM1 were set to 12627228; 15108279; 16813530; 23772242; 32048120
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 MIM#259720
Review for gene: OSTM1 was set to GREEN
Added comment: >3 cases reported and a supporting null mouse model. The condition is caused by osteoclast impairment.
Sources: Expert list
Defects of intrinsic and innate immunity v0.49 CLCN7 Bryony Thompson Marked gene: CLCN7 as ready
Defects of intrinsic and innate immunity v0.49 CLCN7 Bryony Thompson Gene: clcn7 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.49 CLCN7 Bryony Thompson Classified gene: CLCN7 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.49 CLCN7 Bryony Thompson Gene: clcn7 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.48 CLCN7 Bryony Thompson gene: CLCN7 was added
gene: CLCN7 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCN7 were set to 11207362; 15231021; 17033731; 19507210; 32048120
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 MIM#611490
Review for gene: CLCN7 was set to GREEN
Added comment: At least 4 unrelated cases reported, and a supporting mouse model. Impaired osteoclast (derived from myeloid/monocyte lineage) function is a feature of the condition.
Sources: Expert list
Defects of intrinsic and innate immunity v0.47 TCIRG1 Bryony Thompson Marked gene: TCIRG1 as ready
Defects of intrinsic and innate immunity v0.47 TCIRG1 Bryony Thompson Gene: tcirg1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.47 TCIRG1 Bryony Thompson Classified gene: TCIRG1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.47 TCIRG1 Bryony Thompson Gene: tcirg1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.46 TCIRG1 Bryony Thompson gene: TCIRG1 was added
gene: TCIRG1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCIRG1 were set to 10888887; 31938717; 19507210; 32048120
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 MIM#259700
Review for gene: TCIRG1 was set to GREEN
gene: TCIRG1 was marked as current diagnostic
Added comment: >3 cases reported and supporting mouse model. Cases have been reported with immunodeficiency.
Sources: Expert list
Defects of intrinsic and innate immunity v0.45 PLEKHM1 Bryony Thompson Marked gene: PLEKHM1 as ready
Defects of intrinsic and innate immunity v0.45 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.45 PLEKHM1 Bryony Thompson gene: PLEKHM1 was added
gene: PLEKHM1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: PLEKHM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHM1 were set to 17404618; 32048120
Phenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 MIM#611497
Review for gene: PLEKHM1 was set to RED
Added comment: Currently only a single case reported with the recessive condition, which is is the only form reported in the IUIS 2019 PID update.
Sources: Expert list
Defects of intrinsic and innate immunity v0.44 TNFRSF11A Bryony Thompson Marked gene: TNFRSF11A as ready
Defects of intrinsic and innate immunity v0.44 TNFRSF11A Bryony Thompson Gene: tnfrsf11a has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.44 TNFRSF11A Bryony Thompson Classified gene: TNFRSF11A as Green List (high evidence)
Defects of intrinsic and innate immunity v0.44 TNFRSF11A Bryony Thompson Gene: tnfrsf11a has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.43 TNFRSF11A Bryony Thompson gene: TNFRSF11A was added
gene: TNFRSF11A was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 MIM#612301
Review for gene: TNFRSF11A was set to GREEN
gene: TNFRSF11A was marked as current diagnostic
Added comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production.
Sources: Expert list
Phagocyte Defects v0.44 CSF2RB Bryony Thompson Marked gene: CSF2RB as ready
Phagocyte Defects v0.44 CSF2RB Bryony Thompson Gene: csf2rb has been classified as Green List (High Evidence).
Phagocyte Defects v0.44 CSF2RB Bryony Thompson Publications for gene: CSF2RB were set to 7568173; 21075760; 21205713; 25274301; 30846703
Phagocyte Defects v0.43 CSF2RB Bryony Thompson Classified gene: CSF2RB as Green List (high evidence)
Phagocyte Defects v0.43 CSF2RB Bryony Thompson Gene: csf2rb has been classified as Green List (High Evidence).
Phagocyte Defects v0.42 CSF2RB Bryony Thompson gene: CSF2RB was added
gene: CSF2RB was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF2RB were set to 7568173; 21075760; 21205713; 25274301; 30846703
Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370
Review for gene: CSF2RB was set to GREEN
Added comment: At least 2 unrelated cases reported and multiple supporting mouse models. Condition includes impaired alveolar macrophages.
Sources: Expert list
Mendeliome v0.6776 ALDH1L2 Zornitza Stark Marked gene: ALDH1L2 as ready
Mendeliome v0.6776 ALDH1L2 Zornitza Stark Gene: aldh1l2 has been classified as Red List (Low Evidence).
Mendeliome v0.6776 ALDH1L2 Zornitza Stark Classified gene: ALDH1L2 as Red List (low evidence)
Mendeliome v0.6776 ALDH1L2 Zornitza Stark Gene: aldh1l2 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.41 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Phagocyte Defects v0.41 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.78 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from Roberts syndrome 268300; SC phocomelia syndrome 269000 to Roberts syndrome 268300; SC phocomelia syndrome 269000; Juberg-Hayward syndrome, MIM# 216100
Radial Ray Abnormalities v0.77 ESCO2 Zornitza Stark Publications for gene: ESCO2 were set to 19574259; 16380922
Radial Ray Abnormalities v0.76 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6775 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Mendeliome v0.6775 ESCO2 Zornitza Stark Gene: esco2 has been classified as Green List (High Evidence).
Mendeliome v0.6775 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Mendeliome v0.6774 ESCO2 Zornitza Stark Publications for gene: ESCO2 were set to
Mendeliome v0.6773 ESCO2 Zornitza Stark Mode of inheritance for gene: ESCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6772 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.104 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Clefting disorders v0.104 ESCO2 Zornitza Stark Gene: esco2 has been classified as Green List (High Evidence).
Clefting disorders v0.104 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from ROBERTS SYNDROME; RBS, SC PHOCOMELIA SYNDROME to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Clefting disorders v0.103 ESCO2 Zornitza Stark Publications for gene: ESCO2 were set to
Clefting disorders v0.102 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.41 CSF2RA Bryony Thompson Classified gene: CSF2RA as Green List (high evidence)
Phagocyte Defects v0.41 CSF2RA Bryony Thompson Gene: csf2ra has been classified as Green List (High Evidence).
Phagocyte Defects v0.40 CSF2RA Bryony Thompson gene: CSF2RA was added
gene: CSF2RA was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CSF2RA 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: CSF2RA were set to 18955567; 18955570; 31326401; 28233860; 28212655; 24279752
Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770
Review for gene: CSF2RA was set to GREEN
Added comment: >3 unrelated families reported with impairment of alveolar macrophages, and supporting mouse models
Sources: Expert list
Disorders of immune dysregulation v0.78 ZAP70 Bryony Thompson Marked gene: ZAP70 as ready
Disorders of immune dysregulation v0.78 ZAP70 Bryony Thompson Gene: zap70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.78 ZAP70 Bryony Thompson Classified gene: ZAP70 as Green List (high evidence)
Disorders of immune dysregulation v0.78 ZAP70 Bryony Thompson Gene: zap70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.77 ZAP70 Bryony Thompson gene: ZAP70 was added
gene: ZAP70 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZAP70 were set to 26783323; 32431715; 32048120
Phenotypes for gene: ZAP70 were set to Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006
Review for gene: ZAP70 was set to GREEN
gene: ZAP70 was marked as current diagnostic
Added comment: At least 7 cases have been reported with autoimmunity/immune dysregulation and biallelic variants
Sources: Expert list
Mendeliome v0.6772 RNF113A Bryony Thompson Publications for gene: RNF113A were set to 25612912; 31793730
Mendeliome v0.6771 RNF113A Bryony Thompson Classified gene: RNF113A as Green List (high evidence)
Mendeliome v0.6771 RNF113A Bryony Thompson Added comment: Comment on list classification: Additional cases published
Mendeliome v0.6771 RNF113A Bryony Thompson Gene: rnf113a has been classified as Green List (High Evidence).
Hair disorders v0.39 RNF113A Bryony Thompson edited their review of gene: RNF113A: Changed publications: 25612912, 31880405, 31793730
Hair disorders v0.39 RNF113A Bryony Thompson changed review comment from: 3 unrelated families with the diagnostic hair features of trichothiodystrophy and evidence in patient cells supporting a mechanism of loss of function.; to: 5 families with 3 different truncating variants, with the diagnostic hair features of trichothiodystrophy and evidence in patient cells supporting a mechanism of loss of function.
Mendeliome v0.6769 ALDH1L2 Naomi Baker gene: ALDH1L2 was added
gene: ALDH1L2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ALDH1L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1L2 were set to PMID: 31341639; 33168096
Phenotypes for gene: ALDH1L2 were set to pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks
Review for gene: ALDH1L2 was set to RED
Added comment: Individual reported with bialleleic ALDH1L2 variants (non-canonical splice and a frameshift mutation), who also has a de novo hemizygous RPS6KA3 frameshift mutation. Authors state that not all features of the individual could be explained by the RPS6KA3 variant, and that consideration of Coffin-Lowry sysndrome was only made after identification of the RPS6KA3 variant. Therefore individual has there is a blended phenotype of Coffin–Lowry syndrome and Sjögren–Larsson syndrome. From functional studies authors propose that the ALDH1L2 loss induces mitochondrial dysfunction due to reduced NADPH and increased oxidative stress (PMID: 31341639). Knockout mouse model was viable and did not show an apparent phenotype, however metabolomic analysis showed vastly changed metabotypes in the liver and plasma in these mice suggesting channeling of fatty acids away from β-oxidation. Authors therefore postulate that the role of ALDH1L2 in the lipid metabolism explains why the loss of this enzyme is associated with neuro-cutaneous disease.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.110 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Joubert syndrome and other neurological ciliopathies v0.110 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.110 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134 to Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134
Joubert syndrome and other neurological ciliopathies v0.110 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134
Joubert syndrome and other neurological ciliopathies v0.109 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Joubert syndrome and other neurological ciliopathies v0.108 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.107 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 16682973, 16682970, 17705300, 33370260, 32600475; Phenotypes: Joubert syndrome 5, MIM# 610188, Meckel syndrome 4, MIM# 611134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.95 MYBPC3 Zornitza Stark Classified gene: MYBPC3 as Red List (low evidence)
Dilated Cardiomyopathy v0.95 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.94 MYBPC3 Zornitza Stark reviewed gene: MYBPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM#615396; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.94 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Dilated Cardiomyopathy v0.94 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.94 MYBPC3 Zornitza Stark Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, MIM#615396
Dilated Cardiomyopathy v0.93 MYBPC3 Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.92 MYBPC3 Zornitza Stark Classified gene: MYBPC3 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.92 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.91 MYBPC3 Paul De Fazio reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM#615396; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Retinitis pigmentosa v0.86 FAM57B Zornitza Stark Tag new gene name tag was added to gene: FAM57B.
Mendeliome v0.6769 FAM57B Zornitza Stark Tag new gene name tag was added to gene: FAM57B.
Mendeliome v0.6769 FAM57B Zornitza Stark Marked gene: FAM57B as ready
Mendeliome v0.6769 FAM57B Zornitza Stark Gene: fam57b has been classified as Green List (High Evidence).
Mendeliome v0.6769 FAM57B Zornitza Stark Classified gene: FAM57B as Green List (high evidence)
Mendeliome v0.6769 FAM57B Zornitza Stark Gene: fam57b has been classified as Green List (High Evidence).
Mendeliome v0.6768 FAM57B Zornitza Stark gene: FAM57B was added
gene: FAM57B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM57B were set to 33077892
Phenotypes for gene: FAM57B were set to Cone–rod dystrophy; Maculopathy
Review for gene: FAM57B was set to GREEN
Added comment: 4 patients with cone-rod dystrophy or maculopathy from 3 families, with LOF pathogenic variants in TLCD3B (ceramide synthase gene). Ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. Variants segregated with disease. TLCD3B showed high expression in the adult retina with higher expression in the macular than in the peripheral region. Tlcd3bKO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina.
Sources: Literature
Retinitis pigmentosa v0.86 FAM57B Zornitza Stark Marked gene: FAM57B as ready
Retinitis pigmentosa v0.86 FAM57B Zornitza Stark Gene: fam57b has been classified as Green List (High Evidence).
Diabetes Insipidus v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson Marked gene: NBAS as ready
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson changed review comment from: Immunological abnormalities leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients
Sources: Other; to: Immunological abnormalities (characterized by hypogammaglobulinemia, low T-cells, and near-absent B-cells) leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients
Sources: Other
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson Classified gene: NBAS as Green List (high evidence)
Predominantly Antibody Deficiency v0.65 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.64 NBAS Bryony Thompson gene: NBAS was added
gene: NBAS was added to Predominantly Antibody Deficiency. Sources: Other
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 26286438; 33042920
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800
Review for gene: NBAS was set to GREEN
Added comment: Immunological abnormalities leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients
Sources: Other
Mendeliome v0.6767 LRRC8A Bryony Thompson Marked gene: LRRC8A as ready
Mendeliome v0.6767 LRRC8A Bryony Thompson Gene: lrrc8a has been classified as Red List (Low Evidence).
Mendeliome v0.6767 LRRC8A Bryony Thompson Classified gene: LRRC8A as Red List (low evidence)
Mendeliome v0.6767 LRRC8A Bryony Thompson Gene: lrrc8a has been classified as Red List (Low Evidence).
Mendeliome v0.6766 LRRC8A Bryony Thompson changed review comment from: A single case reported with a reciprocal translocation, t(9;20)(q33.2;q12), and demonstrated truncation of the LRRC8A gene. No other supporting evidence; to: A single case reported with a reciprocal translocation, t(9;20)(q33.2;q12), and demonstrated truncation of the LRRC8A gene. No other supporting evidence could be identified.
Mendeliome v0.6766 LRRC8A Bryony Thompson reviewed gene: LRRC8A: Rating: RED; Mode of pathogenicity: None; Publications: 14660746; Phenotypes: ?Agammaglobulinemia 5 MIM#613506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa v0.86 FAM57B Chirag Patel Classified gene: FAM57B as Green List (high evidence)
Retinitis pigmentosa v0.86 FAM57B Chirag Patel Gene: fam57b has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.85 FAM57B Chirag Patel gene: FAM57B was added
gene: FAM57B was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM57B were set to PMID: 33077892
Phenotypes for gene: FAM57B were set to Cone–rod dystrophy; Maculopathy
Review for gene: FAM57B was set to GREEN
Added comment: 4 patients with cone-rod dystrophy or maculopathy from 3 families, with LOF pathogenic variants in TLCD3B (ceramide synthase gene). Ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. Variants segregated with disease. TLCD3B showed high expression in the adult retina with higher expression in the macular than in the peripheral region. Tlcd3bKO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina.
Sources: Literature
Predominantly Antibody Deficiency v0.63 MSH6 Bryony Thompson Marked gene: MSH6 as ready
Predominantly Antibody Deficiency v0.63 MSH6 Bryony Thompson Gene: msh6 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.63 MSH6 Bryony Thompson Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency to Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency; immunodeficiency
Predominantly Antibody Deficiency v0.62 MSH6 Bryony Thompson edited their review of gene: MSH6: Changed phenotypes: Mismatch repair cancer syndrome 3 MIM#619097, constitutional mismatch repair deficiency, immunodeficiency
Predominantly Antibody Deficiency v0.62 MSH6 Bryony Thompson gene: MSH6 was added
gene: MSH6 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH6 were set to 22250089; 32048120; 30013564
Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency
Review for gene: MSH6 was set to RED
Added comment: 5 CMMRD cases with homozygous/compound heterozygous did not show any clinical warning signs of PID (infections, immune dysregulation, inflammation, failure to thrive, etc.) or uniform/specific patterns of laboratory abnormalities.
Sources: Expert list
Combined Immunodeficiency v0.192 KMT2A Bryony Thompson Marked gene: KMT2A as ready
Combined Immunodeficiency v0.192 KMT2A Bryony Thompson Gene: kmt2a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.192 KMT2A Bryony Thompson Classified gene: KMT2A as Amber List (moderate evidence)
Combined Immunodeficiency v0.192 KMT2A Bryony Thompson Gene: kmt2a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.191 KMT2A Bryony Thompson gene: KMT2A was added
gene: KMT2A was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2A were set to 32048120; 28623346; 27320412
Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130
Review for gene: KMT2A was set to AMBER
Added comment: 4 cases with combined immunodeficiency from 2 unrelated families.
Sources: Expert list
Combined Immunodeficiency v0.190 KDM6A Bryony Thompson Classified gene: KDM6A as Green List (high evidence)
Combined Immunodeficiency v0.190 KDM6A Bryony Thompson Gene: kdm6a has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.189 KDM6A Bryony Thompson gene: KDM6A was added
gene: KDM6A was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: KDM6A 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: KDM6A were set to 31363182; 32048120
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2 MIM#300867
Review for gene: KDM6A was set to GREEN
Added comment: Around 50% of Kabuki syndrome cases have immunopathological manifestations
Sources: Expert list
Combined Immunodeficiency v0.188 KMT2D Bryony Thompson Marked gene: KMT2D as ready
Combined Immunodeficiency v0.188 KMT2D Bryony Thompson Gene: kmt2d has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.188 KMT2D Bryony Thompson Classified gene: KMT2D as Green List (high evidence)
Combined Immunodeficiency v0.188 KMT2D Bryony Thompson Gene: kmt2d has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.187 KMT2D Bryony Thompson gene: KMT2D was added
gene: KMT2D was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 31363182; 32048120
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 MIM#147920
Review for gene: KMT2D was set to GREEN
Added comment: Around 50% of Kabuki syndrome cases have immunopathological manifestations
Sources: Expert list
Combined Immunodeficiency v0.186 TGFBR2 Bryony Thompson Classified gene: TGFBR2 as Green List (high evidence)
Combined Immunodeficiency v0.186 TGFBR2 Bryony Thompson Added comment: Comment on list classification: IUIS CID gene
Combined Immunodeficiency v0.186 TGFBR2 Bryony Thompson Gene: tgfbr2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.185 TGFBR2 Bryony Thompson Marked gene: TGFBR2 as ready
Combined Immunodeficiency v0.185 TGFBR2 Bryony Thompson Gene: tgfbr2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.185 TGFBR2 Bryony Thompson Classified gene: TGFBR2 as Green List (high evidence)
Combined Immunodeficiency v0.185 TGFBR2 Bryony Thompson Gene: tgfbr2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.184 TGFBR2 Bryony Thompson gene: TGFBR2 was added
gene: TGFBR2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR2 were set to 24333532; 23884466; 32048120
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 MIM#610168
Mode of pathogenicity for gene: TGFBR2 was set to Other
Review for gene: TGFBR2 was set to GREEN
Added comment: There is a high prevalence of multiple immunologic phenotypes, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal diseases in LDS cases with TGFBR2 pathogenic missense variants.
Sources: Expert list
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Marked gene: TGFBR1 as ready
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Gene: tgfbr1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Classified gene: TGFBR1 as Green List (high evidence)
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Added comment: Comment on list classification: IUIS CID gene
Combined Immunodeficiency v0.183 TGFBR1 Bryony Thompson Gene: tgfbr1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.182 TGFBR1 Bryony Thompson gene: TGFBR1 was added
gene: TGFBR1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR1 were set to 24333532; 23884466; 32048120
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1 MIM#609192
Mode of pathogenicity for gene: TGFBR1 was set to Other
Review for gene: TGFBR1 was set to GREEN
Added comment: There is a high prevalence of multiple immunologic phenotypes, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal diseases in LDS cases with TGFBR1 pathogenic missense variants.
Sources: Expert list
Combined Immunodeficiency v0.181 RNU4ATAC Bryony Thompson Marked gene: RNU4ATAC as ready
Combined Immunodeficiency v0.181 RNU4ATAC Bryony Thompson Gene: rnu4atac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.181 RNU4ATAC Bryony Thompson Classified gene: RNU4ATAC as Green List (high evidence)
Combined Immunodeficiency v0.181 RNU4ATAC Bryony Thompson Gene: rnu4atac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.180 RNU4ATAC Bryony Thompson gene: RNU4ATAC was added
gene: RNU4ATAC was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 32048120; 26522830; 29265708
Phenotypes for gene: RNU4ATAC were set to Lowry-Wood syndrome MIM#226960; Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710; Roifman syndrome MIM#616651
Review for gene: RNU4ATAC was set to GREEN
gene: RNU4ATAC was marked as current diagnostic
Added comment: Conditions caused by this gene are classified as Immuno-osseus dysplasias by IUIS (under CID with syndromic features). >3 unrelated cases have been reported.
Sources: Expert list
Combined Immunodeficiency v0.179 UNC119 Bryony Thompson Marked gene: UNC119 as ready
Combined Immunodeficiency v0.179 UNC119 Bryony Thompson Gene: unc119 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.179 UNC119 Bryony Thompson gene: UNC119 was added
gene: UNC119 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UNC119 were set to 22184408
Phenotypes for gene: UNC119 were set to ?Immunodeficiency 13 MIM#615518
Review for gene: UNC119 was set to RED
Added comment: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes.
Sources: Expert list
Severe Combined Immunodeficiency v0.24 FOXN1 Bryony Thompson Marked gene: FOXN1 as ready
Severe Combined Immunodeficiency v0.24 FOXN1 Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.24 FOXN1 Bryony Thompson Publications for gene: FOXN1 were set to 31447097; 18339010; 10206641
Severe Combined Immunodeficiency v0.23 FOXN1 Bryony Thompson Publications for gene: FOXN1 were set to
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Classified gene: FOXN1 as Green List (high evidence)
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Added comment: Comment on list classification: On IUIS gene list (PMID: 32048120)
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Classified gene: FOXN1 as Green List (high evidence)
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Added comment: Comment on list classification: On IUIS gene list (PMID: 32048120)
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.20 FOXN1 Bryony Thompson gene: FOXN1 was added
gene: FOXN1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert list
Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806
Mendeliome v0.6766 SIAE Bryony Thompson Marked gene: SIAE as ready
Mendeliome v0.6766 SIAE Bryony Thompson Gene: siae has been classified as Red List (Low Evidence).
Mendeliome v0.6766 SIAE Bryony Thompson Classified gene: SIAE as Red List (low evidence)
Mendeliome v0.6766 SIAE Bryony Thompson Gene: siae has been classified as Red List (Low Evidence).
Mendeliome v0.6765 SIAE Bryony Thompson reviewed gene: SIAE: Rating: RED; Mode of pathogenicity: None; Publications: 20555325, 28900629, 22200769; Phenotypes: {Autoimmune disease, susceptibility to, 6} MIM#613551; Mode of inheritance: Unknown
Mendeliome v0.6765 TAOK2 Bryony Thompson Marked gene: TAOK2 as ready
Mendeliome v0.6765 TAOK2 Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6765 TAOK2 Bryony Thompson edited their review of gene: TAOK2: Changed phenotypes: Generalized verrucosis, abnormal T cell activation, autism
Mendeliome v0.6765 TAOK2 Bryony Thompson Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation to Generalized verrucosis; abnormal T cell activation; autism
Mendeliome v0.6764 TAOK2 Bryony Thompson Classified gene: TAOK2 as Amber List (moderate evidence)
Mendeliome v0.6764 TAOK2 Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence).
Autism v0.139 TAOK2 Bryony Thompson Marked gene: TAOK2 as ready
Autism v0.139 TAOK2 Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6763 TAOK2 Bryony Thompson gene: TAOK2 was added
gene: TAOK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TAOK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TAOK2 were set to 28385331; 29467497
Phenotypes for gene: TAOK2 were set to Generalized verrucosis; abnormal T cell activation
Review for gene: TAOK2 was set to AMBER
Added comment: PMID: 28385331 - A single consanguineous family with generalized verrucosis and abnormal T cell activation, and a homozygous missense (p.R700C), with some assays on patient fibroblasts.
PMID: 29467497 - One of the several genes in the 16p11.2 microdeletion region associated with autism. Taok2 heterozygous and knockout mice had gene dosage-dependent impairments in cognition, anxiety, social interaction, brain size, and neural connectivity. 3 de novo variants and 3 predicted loss of function variants identified in 6 unrelated autism cases. 2 of the de novo variants have supporting functional assays, but 1 of them co-occurs in an individual with a CHD8 frameshift. 1 of the predicted loss of function variants was also identified in the unaffected father and sibling.
Sources: Literature
Autism v0.139 TAOK2 Bryony Thompson Classified gene: TAOK2 as Amber List (moderate evidence)
Autism v0.139 TAOK2 Bryony Thompson Added comment: Comment on list classification: Good mouse model, but some uncertainty in the human data
Autism v0.139 TAOK2 Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence).
Autism v0.138 TAOK2 Bryony Thompson gene: TAOK2 was added
gene: TAOK2 was added to Autism. Sources: Literature
Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK2 were set to 29467497
Phenotypes for gene: TAOK2 were set to Autism
Review for gene: TAOK2 was set to AMBER
Added comment: One of the several genes in the 16p11.2 microdeletion region associated with autism. Taok2 heterozygous and knockout mice had gene dosage-dependent impairments in cognition, anxiety, social interaction, brain size, and neural connectivity. 3 de novo variants and 3 predicted loss of function variants identified in 6 unrelated autism cases. 2 of the de novo variants have supporting functional assays, but 1 of them co-occurs in an individual with a CHD8 frameshift. 1 of the predicted loss of function variants was also identified in the unaffected father and sibling.
Sources: Literature
Susceptibility to Viral Infections v0.69 TAOK2 Bryony Thompson Marked gene: TAOK2 as ready
Susceptibility to Viral Infections v0.69 TAOK2 Bryony Thompson Gene: taok2 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.69 TAOK2 Bryony Thompson gene: TAOK2 was added
gene: TAOK2 was added to Susceptibility to Viral Infections. Sources: Other
Mode of inheritance for gene: TAOK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAOK2 were set to 28385331
Phenotypes for gene: TAOK2 were set to Generalized verrucosis; abnormal T cell activation
Review for gene: TAOK2 was set to RED
Added comment: A single consanguineous family with a homozygous missense (p.R700C), and some assays on patient fibroblasts.
Sources: Other
Mendeliome v0.6762 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Mendeliome v0.6762 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Mendeliome v0.6762 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
Mendeliome v0.6761 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Mendeliome v0.6760 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6759 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.107 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Joubert syndrome and other neurological ciliopathies v0.107 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.107 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
Joubert syndrome and other neurological ciliopathies v0.106 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Joubert syndrome and other neurological ciliopathies v0.105 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.104 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.50 ZAP70 Zornitza Stark changed review comment from: Comment when marking as ready: Single family.; to: Comment when marking as ready: two families. Insufficient information available about third to be used as evidence.
Inflammatory bowel disease v0.50 ZAP70 Zornitza Stark edited their review of gene: ZAP70: Changed rating: AMBER
Inflammatory bowel disease v0.50 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to 26783323
Inflammatory bowel disease v0.49 ZAP70 Zornitza Stark Classified gene: ZAP70 as Amber List (moderate evidence)
Inflammatory bowel disease v0.49 ZAP70 Zornitza Stark Gene: zap70 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6759 POLR3GL Zornitza Stark Phenotypes for gene: POLR3GL were changed from endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy to Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234; endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy
Mendeliome v0.6758 POLR3GL Zornitza Stark edited their review of gene: POLR3GL: Changed rating: AMBER; Changed phenotypes: Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234
Inflammatory bowel disease v0.48 ZAP70 Lavvina Thiyagarajan changed review comment from: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795); to: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795)
Inflammatory bowel disease v0.48 ZAP70 Lavvina Thiyagarajan changed review comment from: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper hence details of this case are unclear - PMID: 32819795); to: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795)
Inflammatory bowel disease v0.48 ZAP70 Lavvina Thiyagarajan Deleted their comment
Inflammatory bowel disease v0.48 ZAP70 Lavvina Thiyagarajan edited their review of gene: ZAP70: Added comment: Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper hence details of this case are unclear - PMID: 32819795); Changed publications: 26783323, 32819795, 32633164
Congenital Heart Defect v0.96 INVS Zornitza Stark Marked gene: INVS as ready
Congenital Heart Defect v0.96 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Congenital Heart Defect v0.96 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)
Congenital Heart Defect v0.95 INVS Zornitza Stark Publications for gene: INVS were set to
Congenital Heart Defect v0.94 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.94 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.235 INVS Zornitza Stark Marked gene: INVS as ready
Ciliopathies v0.235 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Ciliopathies v0.235 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)
Ciliopathies v0.234 INVS Zornitza Stark Publications for gene: INVS were set to
Ciliopathies v0.233 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.128 INVS Zornitza Stark Marked gene: INVS as ready
Renal Ciliopathies and Nephronophthisis v0.128 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.128 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)
Renal Ciliopathies and Nephronophthisis v0.127 INVS Zornitza Stark Publications for gene: INVS were set to
Renal Ciliopathies and Nephronophthisis v0.126 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6758 INVS Zornitza Stark Marked gene: INVS as ready
Mendeliome v0.6758 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Mendeliome v0.6758 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)
Mendeliome v0.6757 INVS Zornitza Stark Publications for gene: INVS were set to
Mendeliome v0.6756 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.93 INVS Paul De Fazio reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliopathies v0.232 INVS Paul De Fazio reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal Ciliopathies and Nephronophthisis v0.125 INVS Paul De Fazio reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6755 INVS Paul De Fazio reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6755 ZCCHC8 Bryony Thompson Marked gene: ZCCHC8 as ready
Mendeliome v0.6755 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6755 ZCCHC8 Bryony Thompson Classified gene: ZCCHC8 as Amber List (moderate evidence)
Mendeliome v0.6755 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6754 ZCCHC8 Bryony Thompson gene: ZCCHC8 was added
gene: ZCCHC8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZCCHC8 were set to 31488579
Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis
Review for gene: ZCCHC8 was set to AMBER
Added comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 ZCCHC8 Bryony Thompson Marked gene: ZCCHC8 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 ZCCHC8 Bryony Thompson Classified gene: ZCCHC8 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.22 ZCCHC8 Bryony Thompson gene: ZCCHC8 was added
gene: ZCCHC8 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Other
Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZCCHC8 were set to 31488579
Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis
Review for gene: ZCCHC8 was set to AMBER
Added comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model.
Sources: Other
Stroke v0.99 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Stroke v0.99 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Stroke v0.99 SLC2A10 Zornitza Stark Phenotypes for gene: SLC2A10 were changed from 208050; Moyamoya disease; Arterial tortuosity syndrome to Arterial tortuosity syndrome 208050; Moyamoya disease
Stroke v0.98 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.98 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Stroke v0.98 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Stroke v0.98 PROC Zornitza Stark Marked gene: PROC as ready
Stroke v0.98 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Stroke v0.98 POLG Zornitza Stark Marked gene: POLG as ready
Stroke v0.98 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Stroke v0.98 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to POLG-related MELAS
Stroke v0.97 POLG Zornitza Stark Publications for gene: POLG were set to
Stroke v0.96 POLG Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 31425757, 27838477; Phenotypes: POLG-related MELAS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.96 PDCD10 Zornitza Stark Marked gene: PDCD10 as ready
Stroke v0.96 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Green List (High Evidence).
Stroke v0.96 PCCB Zornitza Stark Marked gene: PCCB as ready
Stroke v0.96 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Stroke v0.96 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from to Propionicacidemia, MIM# 606054
Stroke v0.95 PCCA Zornitza Stark Marked gene: PCCA as ready
Stroke v0.95 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Stroke v0.95 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from to Propionicacidemia 606054
Stroke v0.94 OTC Zornitza Stark Marked gene: OTC as ready
Stroke v0.94 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Stroke v0.94 OTC Zornitza Stark Phenotypes for gene: OTC were changed from Ornithine carbamoyltransferase deficiency to Ornithine carbamoyltransferase deficiency, MIM# 311250
Stroke v0.93 OTC Zornitza Stark Publications for gene: OTC were set to
Stroke v0.92 OTC Zornitza Stark Mode of inheritance for gene: OTC was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Stroke v0.91 OTC Zornitza Stark edited their review of gene: OTC: Changed rating: GREEN
Stroke v0.91 OTC Zornitza Stark reviewed gene: OTC: Rating: ; Mode of pathogenicity: None; Publications: 32008222, 24850570, 23640148; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Stroke v0.91 NF1 Zornitza Stark Marked gene: NF1 as ready
Stroke v0.91 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Stroke v0.91 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Stroke v0.91 MYH11 Zornitza Stark Gene: myh11 has been classified as Red List (Low Evidence).
Stroke v0.91 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4 to Aortic aneurysm, familial thoracic 4, MIM# 132900
Stroke v0.90 MYH11 Zornitza Stark Classified gene: MYH11 as Red List (low evidence)
Stroke v0.90 MYH11 Zornitza Stark Gene: myh11 has been classified as Red List (Low Evidence).
Stroke v0.89 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.89 MUT Zornitza Stark Marked gene: MUT as ready
Stroke v0.89 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Stroke v0.89 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000
Stroke v0.88 MUT Zornitza Stark reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Somatic v1.2 MET Zornitza Stark Marked gene: MET as ready
Vascular Malformations_Somatic v1.2 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v1.2 MET Zornitza Stark Classified gene: MET as Amber List (moderate evidence)
Vascular Malformations_Somatic v1.2 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v1.1 MET Natasha Brown gene: MET was added
gene: MET was added to Vascular Malformations_Somatic. Sources: Literature
Mode of inheritance for gene: MET was set to Other
Publications for gene: MET were set to PMID: 32858245
Phenotypes for gene: MET were set to lymphovenous malformation; overgrowth
Mode of pathogenicity for gene: MET 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: MET was set to AMBER
Added comment: MET c.3029C>T p. (The1010Ile) found in three unrelated cases and
c.3082G>A; p.(Asp1028Asn) found in one case, via cfDNA analysis at very low allele fraction (<1%)

However authors state: The prevalence of the MET p.T1010I mutation in the population overall is 0.07% according to the Exome Aggregation Consortium and 1.1% in the European population.

1010 is located in exon 14, which is subjected to exon skipping in certain isoforms. Unclear if causative for this phenotype based on very low VAF and transcript/isoform issues, as well as population frequency.
Sources: Literature
Autism v0.137 KDM5B Zornitza Stark Marked gene: KDM5B as ready
Autism v0.137 KDM5B Zornitza Stark Gene: kdm5b has been classified as Green List (High Evidence).
Autism v0.137 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from to Intellectual disability and/or autism, autosomal dominant
Autism v0.136 KDM5B Zornitza Stark Publications for gene: KDM5B were set to
Autism v0.135 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.134 KDM5B Zornitza Stark reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276005, 30217758, 30409806; Phenotypes: Intellectual disability and/or autism, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6753 KDM5B Zornitza Stark reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, Intellectual disability and/or autism, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3530 KDM5B Zornitza Stark edited their review of gene: KDM5B: Changed phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, Intellectual disability and/or autism, autosomal dominant
Intellectual disability syndromic and non-syndromic v0.3530 KDM5B Zornitza Stark Marked gene: KDM5B as ready
Intellectual disability syndromic and non-syndromic v0.3530 KDM5B Zornitza Stark Gene: kdm5b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3530 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from to Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant
Intellectual disability syndromic and non-syndromic v0.3529 KDM5B Zornitza Stark Publications for gene: KDM5B were set to
Intellectual disability syndromic and non-syndromic v0.3528 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3527 KDM5B Zornitza Stark reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276005, 30217758, 30409806; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, autosomal dominant autism spectrum disorder or intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6753 KDM5B Zornitza Stark Marked gene: KDM5B as ready
Mendeliome v0.6753 KDM5B Zornitza Stark Gene: kdm5b has been classified as Green List (High Evidence).
Mendeliome v0.6753 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from to Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant
Mendeliome v0.6752 KDM5B Zornitza Stark Publications for gene: KDM5B were set to
Mendeliome v0.6751 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3527 TPP2 Zornitza Stark Marked gene: TPP2 as ready
Intellectual disability syndromic and non-syndromic v0.3527 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3527 TPP2 Zornitza Stark Classified gene: TPP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3527 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3526 TPP2 Zornitza Stark gene: TPP2 was added
gene: TPP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP2 were set to 25525876; 25414442; 33586135; 18362329
Phenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Review for gene: TPP2 was set to GREEN
Added comment: Immunodeficiency-78 with autoimmunity and developmental delay (IMD78) is an autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Affected individuals present with features of immune deficiency, such as recurrent sinopulmonary or skin infections, as well as autoimmunity, including autoimmune cytopenias, hemolytic anemia, and thrombocytopenia. Autoimmune hepatitis or thyroid disease and central nervous system vasculitis with stroke may also occur. There is increased susceptibility to bacterial, viral, and fungal infections. Laboratory studies show lymphopenia with advanced differentiation and premature senescence of CD8+ T cells and B cells; some patients may have hypergammaglobulinemia. The findings indicate immune dysregulation. Patients also have global developmental delay with speech delay and variable intellectual disability. Five unrelated families and a mouse model.
Sources: Expert list
Mendeliome v0.6750 TPP2 Zornitza Stark Marked gene: TPP2 as ready
Mendeliome v0.6750 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Mendeliome v0.6750 TPP2 Zornitza Stark Phenotypes for gene: TPP2 were changed from to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Mendeliome v0.6749 TPP2 Zornitza Stark Publications for gene: TPP2 were set to
Mendeliome v0.6748 TPP2 Zornitza Stark Mode of inheritance for gene: TPP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6747 TPP2 Zornitza Stark reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25525876, 25414442, 33586135, 18362329; Phenotypes: Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.76 TPP2 Zornitza Stark Marked gene: TPP2 as ready
Disorders of immune dysregulation v0.76 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.76 TPP2 Zornitza Stark Phenotypes for gene: TPP2 were changed from to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Disorders of immune dysregulation v0.75 TPP2 Zornitza Stark Publications for gene: TPP2 were set to
Disorders of immune dysregulation v0.74 TPP2 Zornitza Stark Mode of inheritance for gene: TPP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.73 TPP2 Zornitza Stark reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25525876, 25414442, 33586135, 18362329; Phenotypes: Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3525 DOCK7 Zornitza Stark Marked gene: DOCK7 as ready
Intellectual disability syndromic and non-syndromic v0.3525 DOCK7 Zornitza Stark Gene: dock7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3525 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from Developmental and epileptic encephalopathy 23 MIM#615859 to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371
Intellectual disability syndromic and non-syndromic v0.3524 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859
Intellectual disability syndromic and non-syndromic v0.3523 DOCK7 Zornitza Stark Publications for gene: DOCK7 were set to
Intellectual disability syndromic and non-syndromic v0.3522 DOCK7 Zornitza Stark Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1042 DOCK7 Zornitza Stark Marked gene: DOCK7 as ready
Genetic Epilepsy v0.1042 DOCK7 Zornitza Stark Gene: dock7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1042 DOCK7 Zornitza Stark Publications for gene: DOCK7 were set to
Genetic Epilepsy v0.1041 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371
Genetic Epilepsy v0.1040 DOCK7 Zornitza Stark Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6747 DOCK7 Zornitza Stark Marked gene: DOCK7 as ready
Mendeliome v0.6747 DOCK7 Zornitza Stark Gene: dock7 has been classified as Green List (High Evidence).
Mendeliome v0.6747 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from Developmental and epileptic encephalopathy 23 MIM#615859 to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371
Mendeliome v0.6746 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859
Mendeliome v0.6745 DOCK7 Zornitza Stark Publications for gene: DOCK7 were set to
Mendeliome v0.6744 DOCK7 Zornitza Stark Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.3 UBAP1 Zornitza Stark changed review comment from: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.
Sources: Literature; to: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.

PMID 32934340: additional 7 families.
Sources: Literature
Hereditary Spastic Paraplegia v1.3 UBAP1 Zornitza Stark edited their review of gene: UBAP1: Changed publications: 31696996, 32934340; Changed phenotypes: Childhood-onset hereditary spastic paraplegia, Spastic paraplegia 80, autosomal dominant 618418
Mendeliome v0.6743 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to 31203368; 31696996
Mendeliome v0.6742 UBAP1 Zornitza Stark changed review comment from: PMID 31696996: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.; to: PMID 31696996: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.

PMID 32934340: additional 7 families. Median age of onset 10yrs.
Mendeliome v0.6742 UBAP1 Zornitza Stark edited their review of gene: UBAP1: Changed publications: 31696996, 32934340
Hereditary Spastic Paraplegia v1.3 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, MIM# 604805 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489
Mendeliome v0.6742 RTN2 Zornitza Stark Marked gene: RTN2 as ready
Mendeliome v0.6742 RTN2 Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence).
Mendeliome v0.6742 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489
Mendeliome v0.6741 RTN2 Zornitza Stark Publications for gene: RTN2 were set to
Mendeliome v0.6740 RTN2 Zornitza Stark Mode of inheritance for gene: RTN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6739 RTN2 Zornitza Stark reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 27165006; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805, MONDO:0011489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6739 KDM5B Elena Savva reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29276005, 30217758, 30409806; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, autosomal dominant autism spectrum disorder or intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6739 NIPA1 Zornitza Stark Marked gene: NIPA1 as ready
Mendeliome v0.6739 NIPA1 Zornitza Stark Gene: nipa1 has been classified as Green List (High Evidence).
Mendeliome v0.6739 NIPA1 Zornitza Stark Phenotypes for gene: NIPA1 were changed from to Spastic paraplegia 6, autosomal dominant, MIM# 600363; MONDO:0010878
Mendeliome v0.6738 NIPA1 Zornitza Stark Publications for gene: NIPA1 were set to
Mendeliome v0.6737 NIPA1 Zornitza Stark Mode of inheritance for gene: NIPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6736 NIPA1 Zornitza Stark reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14508710, 15711826, 32500351, 25133278; Phenotypes: Spastic paraplegia 6, autosomal dominant, MIM# 600363, MONDO:0010878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3521 DOCK7 Paul De Fazio reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.1039 DOCK7 Paul De Fazio reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6736 DOCK7 Paul De Fazio reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Spastic Paraplegia v1.2 DDHD2 Zornitza Stark Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive, MIM# 615033 to Spastic paraplegia 54, autosomal recessive, MIM# 615033; MONDO:0014018
Hereditary Spastic Paraplegia v1.1 DDHD2 Zornitza Stark changed review comment from: At least 7 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak.
Sources: Expert list; to: More than 10 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak.
Sources: Expert list
Hereditary Spastic Paraplegia v1.1 DDHD2 Zornitza Stark edited their review of gene: DDHD2: Changed publications: 23486545, 24482476, 23176823, 31302745; Changed phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033
Mendeliome v0.6736 DDHD1 Zornitza Stark Marked gene: DDHD1 as ready
Mendeliome v0.6736 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence).
Mendeliome v0.6736 DDHD1 Zornitza Stark Phenotypes for gene: DDHD1 were changed from to Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256
Mendeliome v0.6735 DDHD1 Zornitza Stark Publications for gene: DDHD1 were set to
Mendeliome v0.6734 DDHD1 Zornitza Stark Mode of inheritance for gene: DDHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6733 DDHD1 Zornitza Stark reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.1 DDHD1 Zornitza Stark Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, MIM# 609340 to Spastic paraplegia 28, autosomal recessive, MIM# 609340; MONDO:0012256
Hereditary Spastic Paraplegia v1.0 DDHD1 Zornitza Stark edited their review of gene: DDHD1: Changed phenotypes: Spastic paraplegia 28, autosomal recessive, MIM# 609340, MONDO:0012256
Mendeliome v0.6733 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 23973755
Mendeliome v0.6732 CPT1C Zornitza Stark reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564185; Phenotypes: Spastic paraplegia 73, autosomal dominant MIM#616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6732 CPT1C Zornitza Stark Phenotypes for gene: CPT1C were changed from Spastic paraplegia 73, autosomal dominant MIM#616282 to Spastic paraplegia 73, autosomal dominant MIM#616282; MONDO:0014568
Mendeliome v0.6731 CAPN1 Zornitza Stark Publications for gene: CAPN1 were set to 27153400
Mendeliome v0.6730 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76, autosomal recessive, MIM#616907 to Spastic paraplegia 76, autosomal recessive, MIM#616907; MONDO:0014827
Malformations of cortical development_Superpanel v3.4 Zornitza Stark Panel name changed from Malformations of cortical development to Malformations of cortical development_Superpanel
Mendeliome v0.6729 AP5Z1 Zornitza Stark Marked gene: AP5Z1 as ready
Mendeliome v0.6729 AP5Z1 Zornitza Stark Gene: ap5z1 has been classified as Green List (High Evidence).
Mendeliome v0.6729 AP5Z1 Zornitza Stark Phenotypes for gene: AP5Z1 were changed from to Spastic paraplegia 48, autosomal recessive, MIM# 613647; MONDO:0013342
Mendeliome v0.6728 AP5Z1 Zornitza Stark Publications for gene: AP5Z1 were set to
Mendeliome v0.6727 AP5Z1 Zornitza Stark Mode of inheritance for gene: AP5Z1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6726 AP5Z1 Zornitza Stark reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26085577, 33543803, 27606357; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647, MONDO:0013342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pancreatitis v1.1 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Microcephaly v0.546 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Microcephaly v0.546 COPB1 Zornitza Stark Gene: copb1 has been classified as Red List (Low Evidence).
Microcephaly v0.546 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to RED
Added comment: Two unrelated families, some supportive functional data. Microcephaly is not a consistent feature in the families reported to date.
Sources: Literature
Cataract v0.267 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Cataract v0.267 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Cataract v0.267 COPB1 Zornitza Stark Classified gene: COPB1 as Amber List (moderate evidence)
Cataract v0.267 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Cataract v0.266 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to AMBER
Added comment: Two unrelated families, some supportive functional data.
Sources: Literature
Mendeliome v0.6726 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Mendeliome v0.6726 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6726 COPB1 Zornitza Stark Classified gene: COPB1 as Amber List (moderate evidence)
Mendeliome v0.6726 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6725 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to AMBER
Added comment: Two unrelated families, some supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3521 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Intellectual disability syndromic and non-syndromic v0.3521 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3521 COPB1 Zornitza Stark Classified gene: COPB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3521 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3520 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to AMBER
Added comment: Two unrelated families, some supportive functional data.
Sources: Literature
Hydrocephalus_Ventriculomegaly v0.84 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Hydrocephalus_Ventriculomegaly v0.84 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.84 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730
Hydrocephalus_Ventriculomegaly v0.83 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Hydrocephalus_Ventriculomegaly v0.82 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.81 CRB2 Zornitza Stark reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 27004616; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.84 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Retinitis pigmentosa v0.84 CRB2 Zornitza Stark Gene: crb2 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.84 CRB2 Zornitza Stark Classified gene: CRB2 as Amber List (moderate evidence)
Retinitis pigmentosa v0.84 CRB2 Zornitza Stark Gene: crb2 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.83 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 30593785; 31438467; 33575434; 30239717
Phenotypes for gene: CRB2 were set to Retinitis pigmentosa
Review for gene: CRB2 was set to AMBER
Added comment: Single family reported with isolated RP. Multiple lines of functional evidence support role of CRB2 in retinal epithelium. Families also reported with multi-system ciliopathy phenotype.
Sources: Expert Review
Ciliopathies v0.232 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Ciliopathies v0.232 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Ciliopathies v0.232 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730
Ciliopathies v0.231 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Ciliopathies v0.230 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.230 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.229 CRB2 Zornitza Stark reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.159 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Proteinuria v0.159 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Proteinuria v0.159 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730
Proteinuria v0.158 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Proteinuria v0.157 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.156 CRB2 Zornitza Stark reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.125 CRB2 Zornitza Stark Publications for gene: CRB2 were set to 25557780
Renal Ciliopathies and Nephronophthisis v0.124 CRB2 Zornitza Stark changed review comment from: Three unrelated families described.
Sources: Expert list; to: More than 5 unrelated families reported, mouse model.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.124 CRB2 Zornitza Stark edited their review of gene: CRB2: Changed publications: 25557780, 33687977, 32051522, 30212996; Changed phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730
Hereditary Spastic Paraplegia v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary Spastic Paraplegia v0.215 SPART Zornitza Stark Marked gene: SPART as ready
Hereditary Spastic Paraplegia v0.215 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.215 SPART Zornitza Stark Phenotypes for gene: SPART were changed from Troyer syndrome; Spastic paraplegia 20, autosomal recessive to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156
Hereditary Spastic Paraplegia v0.214 SPART Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). More than 5 unrelated families reported.
Hereditary Spastic Paraplegia v0.214 SPART Zornitza Stark Publications for gene: SPART were set to
Hereditary Spastic Paraplegia v0.213 SPART Zornitza Stark reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 20437587, 26003402, 27112432, 31535723, 31535723, 28875386, 28679690; Phenotypes: Troyer syndrome, MIM# 275900, SPG20, MONDO:0010156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.213 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Hereditary Spastic Paraplegia v0.213 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.213 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure
Hereditary Spastic Paraplegia v0.212 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.211 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.211 ALS2 Zornitza Stark Marked gene: ALS2 as ready
Hereditary Spastic Paraplegia v0.211 ALS2 Zornitza Stark Gene: als2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.211 ALS2 Zornitza Stark Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Spastic paralysis, infantile onset ascending,autosomal recessive, 607225 to Spastic paralysis, infantile onset ascending, MIM# 607225
Hereditary Spastic Paraplegia v0.210 ALS2 Zornitza Stark Publications for gene: ALS2 were set to
Hereditary Spastic Paraplegia v0.209 ALS2 Zornitza Stark reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145748, 12509863, 24315819; Phenotypes: Spastic paralysis, infantile onset ascending, MIM# 607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.209 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; MONDO:0014725
Intellectual disability syndromic and non-syndromic v0.3519 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Intellectual disability syndromic and non-syndromic v0.3518 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Microcephaly v0.545 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Mendeliome v0.6724 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Genetic Epilepsy v0.1039 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Genetic Epilepsy v0.1038 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Genetic Epilepsy v0.1038 SLC1A4 Zornitza Stark changed review comment from: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list; to: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry (p.Glu256Lys), there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Mendeliome v0.6723 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Mendeliome v0.6723 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Mendeliome v0.6723 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Mendeliome v0.6722 SLC1A4 Zornitza Stark Publications for gene: SLC1A4 were set to
Mendeliome v0.6721 SLC1A4 Zornitza Stark Mode of inheritance for gene: SLC1A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6720 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Hereditary Spastic Paraplegia v0.208 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Hereditary Spastic Paraplegia v0.208 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Hereditary Spastic Paraplegia v0.208 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.208 SLC1A4 Zornitza Stark Publications for gene: SLC1A4 were set to
Hereditary Spastic Paraplegia v0.207 SLC1A4 Zornitza Stark reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.207 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Hereditary Spastic Paraplegia v0.207 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.207 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDHEL syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Hereditary Spastic Paraplegia v0.206 SERAC1 Zornitza Stark reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.206 CLPP Zornitza Stark Marked gene: CLPP as ready
Hereditary Spastic Paraplegia v0.206 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.206 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from Perrault syndrome 3 to Perrault syndrome 3 MIM#614129
Hereditary Spastic Paraplegia v0.205 CLPP Zornitza Stark Publications for gene: CLPP were set to
Hereditary Spastic Paraplegia v0.204 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Hereditary Spastic Paraplegia v0.204 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.204 USP8 Zornitza Stark Marked gene: USP8 as ready
Hereditary Spastic Paraplegia v0.204 USP8 Zornitza Stark Gene: usp8 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.204 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Hereditary Spastic Paraplegia v0.204 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.204 IFIH1 Zornitza Stark Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 to Aicardi-Goutieres syndrome 7 MIM#615846
Hereditary Spastic Paraplegia v0.203 IFIH1 Zornitza Stark Publications for gene: IFIH1 were set to
Hereditary Spastic Paraplegia v0.202 IFIH1 Zornitza Stark Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6720 TFG Zornitza Stark Marked gene: TFG as ready
Mendeliome v0.6720 TFG Zornitza Stark Gene: tfg has been classified as Green List (High Evidence).
Mendeliome v0.6720 TFG Zornitza Stark Phenotypes for gene: TFG were changed from to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484; Spastic paraplegia 57, autosomal recessive, MIM# 615658
Mendeliome v0.6719 TFG Zornitza Stark Mode of inheritance for gene: TFG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6718 TFG Zornitza Stark reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30467354, 30157421, 28124177, 27601211, 27492651, 23479643, 25098539, 23553329, 22883144, 31449671, 31111683; Phenotypes: Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484, Spastic paraplegia 57, autosomal recessive, MIM# 615658; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.201 TFG Zornitza Stark Marked gene: TFG as ready
Hereditary Spastic Paraplegia v0.201 TFG Zornitza Stark Gene: tfg has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.201 TFG Zornitza Stark Phenotypes for gene: TFG were changed from ?Spastic paraplegia 57, autosomal recessive 615658,AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD to Spastic paraplegia 57, autosomal recessive, MIM# 615658
Hereditary Spastic Paraplegia v0.200 TFG Zornitza Stark Publications for gene: TFG were set to
Hereditary Spastic Paraplegia v0.199 TFG Zornitza Stark reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30467354, 30157421, 28124177, 27601211, 27492651, 23479643; Phenotypes: Spastic paraplegia 57, autosomal recessive, MIM# 615658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.249 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Regression v0.249 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Regression v0.249 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209
Regression v0.248 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Regression v0.247 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.246 UCHL1 Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.199 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Hereditary Spastic Paraplegia v0.199 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.199 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209
Hereditary Spastic Paraplegia v0.198 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Hereditary Spastic Paraplegia v0.197 UCHL1 Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3518 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Intellectual disability syndromic and non-syndromic v0.3518 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3518 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977
Intellectual disability syndromic and non-syndromic v0.3517 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Intellectual disability syndromic and non-syndromic v0.3516 WDR45B Zornitza Stark Mode of inheritance for gene: WDR45B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3515 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6718 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Mendeliome v0.6718 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Mendeliome v0.6718 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977
Mendeliome v0.6717 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Mendeliome v0.6716 WDR45B Zornitza Stark Mode of inheritance for gene: WDR45B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6715 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.197 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Hereditary Spastic Paraplegia v0.197 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.197 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 to Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM#617977
Hereditary Spastic Paraplegia v0.196 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Hereditary Spastic Paraplegia v0.195 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6715 REEP2 Zornitza Stark Marked gene: REEP2 as ready
Mendeliome v0.6715 REEP2 Zornitza Stark Gene: reep2 has been classified as Green List (High Evidence).
Mendeliome v0.6715 REEP2 Zornitza Stark Phenotypes for gene: REEP2 were changed from to Spastic paraplegia 72, dominant and recessive, MIM# 615625; MONDO:0014282
Mendeliome v0.6714 REEP2 Zornitza Stark Publications for gene: REEP2 were set to
Mendeliome v0.6713 REEP2 Zornitza Stark Mode of inheritance for gene: REEP2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6712 REEP2 Zornitza Stark reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33526816, 28491902, 24388663; Phenotypes: Spastic paraplegia 72, dominant and recessive, MIM# 615625, MONDO:0014282; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.195 REEP2 Zornitza Stark Marked gene: REEP2 as ready
Hereditary Spastic Paraplegia v0.195 REEP2 Zornitza Stark Gene: reep2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.195 REEP2 Zornitza Stark Phenotypes for gene: REEP2 were changed from ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625 to Spastic paraplegia 72, dominant and recessive, MIM# 615625; MONDO:0014282
Hereditary Spastic Paraplegia v0.194 REEP2 Zornitza Stark Publications for gene: REEP2 were set to
Hereditary Spastic Paraplegia v0.193 REEP2 Zornitza Stark reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33526816, 28491902, 24388663; Phenotypes: Spastic paraplegia 72, dominant and recessive, MIM# 615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3515 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Intellectual disability syndromic and non-syndromic v0.3515 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3515 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165
Intellectual disability syndromic and non-syndromic v0.3514 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Intellectual disability syndromic and non-syndromic v0.3513 NT5C2 Zornitza Stark Mode of inheritance for gene: NT5C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3512 NT5C2 Zornitza Stark reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 32153630, 29123918, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162, MONDO:0013165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6712 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Mendeliome v0.6712 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Green List (High Evidence).
Mendeliome v0.6712 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165
Mendeliome v0.6711 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Mendeliome v0.6710 NT5C2 Zornitza Stark Mode of inheritance for gene: NT5C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6709 NT5C2 Zornitza Stark reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 32153630, 29123918, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162, MONDO:0013165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.193 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Hereditary Spastic Paraplegia v0.193 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.193 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165
Hereditary Spastic Paraplegia v0.192 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Hereditary Spastic Paraplegia v0.191 NT5C2 Zornitza Stark reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 32153630, 29123918, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1038 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Genetic Epilepsy v0.1038 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1038 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764
Genetic Epilepsy v0.1037 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Genetic Epilepsy v0.1036 HACE1 Zornitza Stark Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1035 HACE1 Zornitza Stark reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3512 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Intellectual disability syndromic and non-syndromic v0.3512 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3512 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764
Intellectual disability syndromic and non-syndromic v0.3511 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Intellectual disability syndromic and non-syndromic v0.3510 HACE1 Zornitza Stark Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3509 HACE1 Zornitza Stark reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6709 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Mendeliome v0.6709 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Mendeliome v0.6709 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764
Mendeliome v0.6708 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Mendeliome v0.6707 HACE1 Zornitza Stark Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6706 HACE1 Zornitza Stark reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.191 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Hereditary Spastic Paraplegia v0.191 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.191 HACE1 Zornitza Stark Publications for gene: HACE1 were set to 26424145; 26437029
Hereditary Spastic Paraplegia v0.190 HACE1 Zornitza Stark edited their review of gene: HACE1: Changed phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764
Hereditary Spastic Paraplegia v0.190 HACE1 Zornitza Stark reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31321300; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.190 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; psychomotor retardation to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764; Spastic paraplegia; psychomotor retardation
Hereditary Spastic Paraplegia v0.189 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Mendeliome v0.6706 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Mendeliome v0.6706 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Green List (High Evidence).
Mendeliome v0.6706 NKX6-2 Zornitza Stark Phenotypes for gene: NKX6-2 were changed from to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; MONDO:0033043
Mendeliome v0.6705 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Mendeliome v0.6704 NKX6-2 Zornitza Stark Mode of inheritance for gene: NKX6-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6703 NKX6-2 Zornitza Stark reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560, MONDO:0033043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.188 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Hereditary Spastic Paraplegia v0.188 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.188 NKX6-2 Zornitza Stark Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; MONDO:0033043
Hereditary Spastic Paraplegia v0.187 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Hereditary Spastic Paraplegia v0.186 NKX6-2 Zornitza Stark reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.186 KIDINS220 Zornitza Stark Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; MONDO:0015007
Mendeliome v0.6703 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Mendeliome v0.6703 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Mendeliome v0.6703 ARPC1B Zornitza Stark Phenotypes for gene: ARPC1B were changed from to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Mendeliome v0.6702 ARPC1B Zornitza Stark Publications for gene: ARPC1B were set to
Mendeliome v0.6701 ARPC1B Zornitza Stark Mode of inheritance for gene: ARPC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6700 ARPC1B Zornitza Stark reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28368018, 33679784; Phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.178 ARPC1B Zornitza Stark Publications for gene: ARPC1B were set to 28368018
Combined Immunodeficiency v0.177 ARPC1B Zornitza Stark edited their review of gene: ARPC1B: Added comment: Third family reported PMID 33679784; Changed publications: 28368018, 33679784; Changed phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Intellectual disability syndromic and non-syndromic v0.3509 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Intellectual disability syndromic and non-syndromic v0.3509 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3509 KIDINS220 Zornitza Stark Phenotypes for gene: KIDINS220 were changed from to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; MONDO:0015007
Intellectual disability syndromic and non-syndromic v0.3508 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to
Intellectual disability syndromic and non-syndromic v0.3507 KIDINS220 Zornitza Stark Mode of inheritance for gene: KIDINS220 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3506 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296, MONDO:0015007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.185 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Hereditary Spastic Paraplegia v0.185 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.185 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to
Hereditary Spastic Paraplegia v0.184 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Changed phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296, MONDO:0015007
Hereditary Spastic Paraplegia v0.184 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.81 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391
Hydrocephalus_Ventriculomegaly v0.80 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.80 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.79 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Added comment: Third family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676.; Changed rating: GREEN; Changed publications: 33205811, 28934391, 28934391, 32909676
Arthrogryposis v0.256 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391
Arthrogryposis v0.255 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence)
Arthrogryposis v0.255 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Arthrogryposis v0.254 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Added comment: Third family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676.; Changed rating: GREEN; Changed publications: 33205811, 28934391, 28934391, 32909676
Mendeliome v0.6700 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169; 27005418
Mendeliome v0.6699 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Added comment: Note additional family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676, so total of 3 unrelated families for bi-allelic fetal phenotype.; Changed publications: 27005418, 32909676
Mendeliome v0.6699 KDM5C Zornitza Stark changed review comment from: Progressive lower limb spasticity is a feature of this ID syndrome. More than 5 unrelated families reported.; to: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.
Intellectual disability syndromic and non-syndromic v0.3506 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Intellectual disability syndromic and non-syndromic v0.3506 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3506 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355
Intellectual disability syndromic and non-syndromic v0.3505 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Intellectual disability syndromic and non-syndromic v0.3504 KDM5C Zornitza Stark Mode of inheritance for gene: KDM5C 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)
Intellectual disability syndromic and non-syndromic v0.3503 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6699 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Mendeliome v0.6699 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Mendeliome v0.6699 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355
Mendeliome v0.6698 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Mendeliome v0.6697 KDM5C Zornitza Stark Mode of inheritance for gene: KDM5C 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 v0.6696 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v0.59 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Cerebral Palsy v0.59 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Cerebral Palsy v0.59 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355
Cerebral Palsy v0.58 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Cerebral Palsy v0.57 KDM5C Zornitza Stark Mode of inheritance for gene: KDM5C 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)
Cerebral Palsy v0.56 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Spastic Paraplegia v0.184 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Hereditary Spastic Paraplegia v0.184 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.184 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from Intellectual disability; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; progressive spasticity; hypothyroidism; developmental delay; epilepsy to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355; progressive spasticity; hypothyroidism; developmental delay; epilepsy
Hereditary Spastic Paraplegia v0.183 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Hereditary Spastic Paraplegia v0.182 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Spastic Paraplegia v0.182 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Hereditary Spastic Paraplegia v0.182 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.182 FARS2 Zornitza Stark Publications for gene: FARS2 were set to
Mendeliome v0.6696 ENTPD1 Zornitza Stark Marked gene: ENTPD1 as ready
Mendeliome v0.6696 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Mendeliome v0.6696 ENTPD1 Zornitza Stark Phenotypes for gene: ENTPD1 were changed from to Spastic paraplegia 64, autosomal recessive MIM#615683
Mendeliome v0.6695 ENTPD1 Zornitza Stark Publications for gene: ENTPD1 were set to
Mendeliome v0.6694 ENTPD1 Zornitza Stark Mode of inheritance for gene: ENTPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6693 ENTPD1 Zornitza Stark reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive MIM#615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.181 ENTPD1 Zornitza Stark Marked gene: ENTPD1 as ready
Hereditary Spastic Paraplegia v0.181 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.181 ENTPD1 Zornitza Stark Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive MIM#615683
Hereditary Spastic Paraplegia v0.180 ENTPD1 Zornitza Stark Publications for gene: ENTPD1 were set to
Optic Atrophy v0.131 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Optic Atrophy v0.131 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559
Mitochondrial disease v0.585 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Mitochondrial disease v0.584 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.583 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6693 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Mendeliome v0.6693 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Mendeliome v0.6693 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559
Mendeliome v0.6692 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Mendeliome v0.6691 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6690 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Mendeliome v0.6690 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.179 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Hereditary Spastic Paraplegia v0.179 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Hereditary Spastic Paraplegia v0.179 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.179 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Hereditary Spastic Paraplegia v0.178 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM# 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.5 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Neurodegeneration with brain iron accumulation v0.5 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v0.5 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from Mitochondrial membrane protein-associated neurodegeneration (MPAN) to Mitochondrial membrane protein-associated neurodegeneration (MPAN); Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043
Neurodegeneration with brain iron accumulation v0.4 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Neurodegeneration with brain iron accumulation v0.3 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6690 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Mendeliome v0.6690 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Mendeliome v0.6690 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043
Mendeliome v0.6689 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Mendeliome v0.6688 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6687 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.178 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.177 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Hereditary Spastic Paraplegia v0.177 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.177 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Hereditary Spastic Paraplegia v0.176 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6687 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Mendeliome v0.6687 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Mendeliome v0.6687 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from to Spastic paraplegia 56, autosomal recessive, MIM#615030
Mendeliome v0.6686 CYP2U1 Zornitza Stark Publications for gene: CYP2U1 were set to
Mendeliome v0.6685 CYP2U1 Zornitza Stark Mode of inheritance for gene: CYP2U1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6684 CYP2U1 Zornitza Stark Deleted their comment
Mendeliome v0.6684 CYP2U1 Zornitza Stark edited their review of gene: CYP2U1: Added comment: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported.; Changed rating: GREEN; Changed publications: 23176821, 32006740, 29034544
Hereditary Spastic Paraplegia v0.176 CYP2U1 Zornitza Stark changed review comment from: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade.; to: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported.
Hereditary Spastic Paraplegia v0.176 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Hereditary Spastic Paraplegia v0.176 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.176 CYP2U1 Zornitza Stark Publications for gene: CYP2U1 were set to
Hereditary Spastic Paraplegia v0.175 CYP2U1 Zornitza Stark reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 32006740, 29034544; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM# 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.175 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Hereditary Spastic Paraplegia v0.175 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.175 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from Pontocerebellar hypoplasia, type 9, 615809, AR; Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic); ?Spastic paraplegia 63, 615686, AR to Spastic paraplegia 63 MIM#615686
Hereditary Spastic Paraplegia v0.174 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Hereditary Spastic Paraplegia v0.174 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.174 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2 to Perrault syndrome 2, MIM#614926
Mendeliome v0.6684 IFRD1 Zornitza Stark Marked gene: IFRD1 as ready
Mendeliome v0.6684 IFRD1 Zornitza Stark Gene: ifrd1 has been classified as Red List (Low Evidence).
Mendeliome v0.6684 IFRD1 Zornitza Stark gene: IFRD1 was added
gene: IFRD1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFRD1 were set to 29362493
Phenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia
Review for gene: IFRD1 was set to RED
Added comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD.
Sources: Expert Review
Mendeliome v0.6684 IFRD1 Zornitza Stark gene: IFRD1 was added
gene: IFRD1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFRD1 were set to 29362493
Phenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia
Review for gene: IFRD1 was set to RED
Added comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD.
Sources: Expert Review
Hereditary Spastic Paraplegia v0.173 IFRD1 Zornitza Stark Marked gene: IFRD1 as ready
Hereditary Spastic Paraplegia v0.173 IFRD1 Zornitza Stark Gene: ifrd1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.173 IFRD1 Zornitza Stark Tag refuted tag was added to gene: IFRD1.
Hereditary Spastic Paraplegia v0.173 KLC4 Zornitza Stark Marked gene: KLC4 as ready
Hereditary Spastic Paraplegia v0.173 KLC4 Zornitza Stark Gene: klc4 has been classified as Red List (Low Evidence).
Mendeliome v0.6683 KLC4 Zornitza Stark Marked gene: KLC4 as ready
Mendeliome v0.6683 KLC4 Zornitza Stark Gene: klc4 has been classified as Red List (Low Evidence).
Mendeliome v0.6683 KLC4 Zornitza Stark gene: KLC4 was added
gene: KLC4 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to Complicated hereditary spastic paraplegia
Review for gene: KLC4 was set to RED
Added comment: Single family reported.
Sources: Expert Review
Hereditary Spastic Paraplegia v0.173 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Hereditary Spastic Paraplegia v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.173 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4 MIM#615300
Hereditary Spastic Paraplegia v0.172 MARS Zornitza Stark Marked gene: MARS as ready
Hereditary Spastic Paraplegia v0.172 MARS Zornitza Stark Gene: mars has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.172 MARS Zornitza Stark Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia to Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280
Hereditary Spastic Paraplegia v0.171 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Hereditary Spastic Paraplegia v0.171 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.171 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Hereditary Spastic Paraplegia v0.171 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.171 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from Biotin-thiamine-responsive basal ganglia disease to Biotin-thiamine-responsive basal ganglia disease, MIM#607483
Hereditary Spastic Paraplegia v0.170 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Hereditary Spastic Paraplegia v0.170 TPP1 Zornitza Stark Gene: tpp1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.170 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis neuronal 2 to Ceroid lipofuscinosis neuronal 2, MIM#204500
Callosome v0.261 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Callosome v0.261 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Callosome v0.261 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Callosome v0.260 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Callosome v0.259 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.258 AP4M1 Zornitza Stark Classified gene: AP4M1 as Red List (low evidence)
Callosome v0.258 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Callosome v0.257 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.208 AP4M1 Zornitza Stark Classified gene: AP4M1 as Green List (high evidence)
Additional findings_Paediatric v0.208 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Mendeliome v0.6682 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Mendeliome v0.6682 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Mendeliome v0.6682 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Mendeliome v0.6681 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Mendeliome v0.6680 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6679 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3503 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Intellectual disability syndromic and non-syndromic v0.3503 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3503 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Intellectual disability syndromic and non-syndromic v0.3502 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Intellectual disability syndromic and non-syndromic v0.3501 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3500 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Additional findings_Paediatric v0.206 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Additional findings_Paediatric v0.205 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.169 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Hereditary Spastic Paraplegia v0.169 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.169 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Hereditary Spastic Paraplegia v0.168 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Classified gene: AP4B1 as Green List (high evidence)
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.204 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Additional findings_Paediatric. Sources: Expert Review
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Review for gene: AP4B1 was set to GREEN
Added comment: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 unrelated families reported.
Sources: Expert Review
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Classified gene: AP4E1 as Green List (high evidence)
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.202 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to Additional findings_Paediatric. Sources: Expert Review
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992; 32979048; 23472171
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744
Review for gene: AP4E1 was set to GREEN
Added comment: Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.
Sources: Expert Review
Hereditary Spastic Paraplegia v0.168 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Hereditary Spastic Paraplegia v0.168 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.168 AP4E1 Zornitza Stark Publications for gene: AP4E1 were set to
Hereditary Spastic Paraplegia v0.167 AP4E1 Zornitza Stark reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992, 32979048, 23472171; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.257 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Callosome v0.257 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Callosome v0.257 AP4B1 Zornitza Stark Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Callosome v0.256 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Callosome v0.255 AP4B1 Zornitza Stark Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.254 AP4B1 Zornitza Stark Classified gene: AP4B1 as Red List (low evidence)
Callosome v0.254 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Callosome v0.253 AP4B1 Zornitza Stark reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3500 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Intellectual disability syndromic and non-syndromic v0.3500 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3500 AP4B1 Zornitza Stark Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Intellectual disability syndromic and non-syndromic v0.3499 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Intellectual disability syndromic and non-syndromic v0.3498 AP4B1 Zornitza Stark Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3497 AP4B1 Zornitza Stark reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.167 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Hereditary Spastic Paraplegia v0.167 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.167 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Hereditary Spastic Paraplegia v0.166 AP4B1 Zornitza Stark reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6679 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Mendeliome v0.6679 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Mendeliome v0.6679 ADAMTS13 Zornitza Stark Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Mendeliome v0.6678 ADAMTS13 Zornitza Stark Publications for gene: ADAMTS13 were set to
Mendeliome v0.6677 ADAMTS13 Zornitza Stark Mode of inheritance for gene: ADAMTS13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6676 ADAMTS13 Zornitza Stark reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: 11586351, 30312976; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.213 ADAMTS13 Zornitza Stark Publications for gene: ADAMTS13 were set to 11586351
Bleeding and Platelet Disorders v0.212 ADAMTS13 Zornitza Stark edited their review of gene: ADAMTS13: Changed publications: 11586351, 30312976
Bleeding and Platelet Disorders v0.212 ADAMTS13 Zornitza Stark Mode of inheritance for gene: ADAMTS13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.211 ADAMTS13 Zornitza Stark edited their review of gene: ADAMTS13: Changed phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3497 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Intellectual disability syndromic and non-syndromic v0.3497 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3497 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Intellectual disability syndromic and non-syndromic v0.3496 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Intellectual disability syndromic and non-syndromic v0.3495 AP4S1 Zornitza Stark Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3494 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6676 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Mendeliome v0.6676 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Mendeliome v0.6676 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Mendeliome v0.6675 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Mendeliome v0.6674 AP4S1 Zornitza Stark Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6673 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.166 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Hereditary Spastic Paraplegia v0.166 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.166 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Hereditary Spastic Paraplegia v0.165 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.165 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Hereditary Spastic Paraplegia v0.165 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.165 ARG1 Zornitza Stark Publications for gene: ARG1 were set to
Cerebellar and Pontocerebellar Hypoplasia v1.3 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.3 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.3 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 30924036
Phenotypes for gene: AIMP1 were set to Pontocerebellar hypoplasia
Review for gene: AIMP1 was set to RED
Added comment: Single individual reported with homozygous frameshift variant and PCH/simplified gyral pattern.

Note bi-allelic variants in this gene are typically associated with hypomyelinating leukodystrophy/neurodegeneration.
Sources: Literature
Regression v0.246 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Regression v0.246 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Regression v0.246 AIMP1 Zornitza Stark Classified gene: AIMP1 as Green List (high evidence)
Regression v0.246 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Regression v0.245 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 21092922; 24958424; 33402283; 32531460; 30486714; 30477741
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, MIM# 260600
Review for gene: AIMP1 was set to GREEN
Added comment: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.

Neurodegeneration is a feature.
Sources: Expert Review
Genetic Epilepsy v0.1035 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Genetic Epilepsy v0.1035 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1035 AIMP1 Zornitza Stark Phenotypes for gene: AIMP1 were changed from to Leukodystrophy, hypomyelinating, 3, MIM# 260600
Genetic Epilepsy v0.1034 AIMP1 Zornitza Stark Publications for gene: AIMP1 were set to
Genetic Epilepsy v0.1033 AIMP1 Zornitza Stark Mode of inheritance for gene: AIMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1032 AIMP1 Zornitza Stark reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 24958424, 33402283, 32531460, 30486714, 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3, MIM# 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3494 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Intellectual disability syndromic and non-syndromic v0.3494 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3494 AIMP1 Zornitza Stark Phenotypes for gene: AIMP1 were changed from to Intellectual disability; Leukodystrophy, hypomyelinating, 3, MIM# 260600
Intellectual disability syndromic and non-syndromic v0.3493 AIMP1 Zornitza Stark Publications for gene: AIMP1 were set to
Intellectual disability syndromic and non-syndromic v0.3492 AIMP1 Zornitza Stark Mode of inheritance for gene: AIMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3491 AIMP1 Zornitza Stark reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26173967, 21092922, 24958424, 33402283, 32531460, 30486714, 30477741; Phenotypes: Intellectual disability, Leukodystrophy, hypomyelinating, 3, MIM# 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6673 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Mendeliome v0.6673 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Mendeliome v0.6673 AIMP1 Zornitza Stark Phenotypes for gene: AIMP1 were changed from to Leukodystrophy, hypomyelinating, 3, MIM# 260600
Mendeliome v0.6672 AIMP1 Zornitza Stark Publications for gene: AIMP1 were set to
Mendeliome v0.6671 AIMP1 Zornitza Stark Mode of inheritance for gene: AIMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6670 AIMP1 Zornitza Stark reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 24958424, 33402283, 32531460, 30486714, 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3, MIM# 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.164 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Hereditary Spastic Paraplegia v0.164 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.164 AIMP1 Zornitza Stark Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 to Leukodystrophy, hypomyelinating, 3, MIM#260600
Hereditary Spastic Paraplegia v0.163 AIMP1 Zornitza Stark Publications for gene: AIMP1 were set to
Hereditary Spastic Paraplegia v0.162 AIMP1 Zornitza Stark reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 24958424, 33402283, 32531460, 30486714, 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3, MIM# 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.162 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Hereditary Spastic Paraplegia v0.162 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.162 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246; Spastic ataxia 5, autosomal recessive to Spastic ataxia 5, autosomal recessive, MIM# 614487; Spinocerebellar ataxia 28, MIM# 610246
Hereditary Spastic Paraplegia v0.161 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Hereditary Spastic Paraplegia v0.160 AFG3L2 Zornitza Stark Mode of pathogenicity for gene: AFG3L2 was changed from to Other
Hereditary Spastic Paraplegia v0.159 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22022284, 25401298, 20208537, 20725928, 33075064, 32248051, 30910913; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM# 614487, Spinocerebellar ataxia 28, MIM# 610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stroke v0.88 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Stroke v0.88 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Mendeliome v0.6670 UBA1 Zornitza Stark Publications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311; 33108101
Mendeliome v0.6669 UBA1 Zornitza Stark edited their review of gene: UBA1: Changed publications: 33690815; Changed phenotypes: VEXAS syndrome, somatic, MIM# 301054
Mendeliome v0.6669 UBA1 Zornitza Stark Tag somatic tag was added to gene: UBA1.
Stroke v0.88 HTRA1 Zornitza Stark Marked gene: HTRA1 as ready
Stroke v0.88 HTRA1 Zornitza Stark Gene: htra1 has been classified as Green List (High Evidence).
Stroke v0.88 HTRA1 Zornitza Stark Phenotypes for gene: HTRA1 were changed from Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 to CARASIL syndrome, MIM# 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779
Stroke v0.87 HTRA1 Zornitza Stark Publications for gene: HTRA1 were set to
Stroke v0.86 HTRA1 Zornitza Stark reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19387015, 26063658; Phenotypes: CARASIL syndrome, MIM# 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stroke v0.86 GLA Zornitza Stark Marked gene: GLA as ready
Stroke v0.86 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Stroke v0.86 GLA Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease to Fabry disease, MIM# 301500, MONDO:0010526
Stroke v0.85 GLA Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Stroke v0.85 FLNA Zornitza Stark Marked gene: FLNA as ready
Stroke v0.85 FLNA Zornitza Stark Gene: flna has been classified as Amber List (Moderate Evidence).
Stroke v0.85 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from Periventricular nodular heterotopia 1 to Heterotopia, periventricular, 1 , MIM#300049; Melnick-Needles syndrome 30, MIM#9350
Stroke v0.84 FLNA Zornitza Stark Publications for gene: FLNA were set to
Stroke v0.83 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Stroke v0.82 FLNA Zornitza Stark Classified gene: FLNA as Amber List (moderate evidence)
Stroke v0.82 FLNA Zornitza Stark Gene: flna has been classified as Amber List (Moderate Evidence).
Stroke v0.81 FLNA Zornitza Stark edited their review of gene: FLNA: Added comment: XLD. Stroke is said to be a feature of PVNH in OMIM but few documented reports found.; Changed rating: AMBER; Changed phenotypes: Heterotopia, periventricular, 1 , MIM#300049, Melnick-Needles syndrome 30, MIM#9350; Changed mode of inheritance: Other
Stroke v0.81 FLNA Zornitza Stark reviewed gene: FLNA: Rating: ; Mode of pathogenicity: None; Publications: 21031081; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6669 DSG3 Zornitza Stark Phenotypes for gene: DSG3 were changed from Mucosal blistering to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Mendeliome v0.6668 DSG3 Zornitza Stark edited their review of gene: DSG3: Changed phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Epidermolysis bullosa v1.1 DSG3 Zornitza Stark Phenotypes for gene: DSG3 were changed from Mucosal blistering to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Epidermolysis bullosa v1.0 DSG3 Zornitza Stark edited their review of gene: DSG3: Changed phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Congenital Heart Defect v0.93 WBP11 Zornitza Stark Marked gene: WBP11 as ready
Congenital Heart Defect v0.93 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.93 WBP11 Zornitza Stark Classified gene: WBP11 as Green List (high evidence)
Congenital Heart Defect v0.93 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.92 WBP11 Zornitza Stark gene: WBP11 was added
gene: WBP11 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Mendeliome v0.6668 WBP11 Zornitza Stark Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Mendeliome v0.6667 WBP11 Zornitza Stark reviewed gene: WBP11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.81 WBP11 Zornitza Stark Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.80 WBP11 Zornitza Stark edited their review of gene: WBP11: Changed phenotypes: Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227, malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Stroke v0.81 ENG Zornitza Stark Marked gene: ENG as ready
Stroke v0.81 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Stroke v0.81 ENG Zornitza Stark reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.81 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Stroke v0.81 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Stroke v0.81 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage to Brain small vessel disease with or without ocular anomalies MIM#175780; Brain Small Vessel Disease with Hemorrhage
Stroke v0.80 COL4A1 Zornitza Stark edited their review of gene: COL4A1: Changed phenotypes: Brain small vessel disease with or without ocular anomalies MIM#175780, Brain Small Vessel Disease with Hemorrhage
Stroke v0.80 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6667 CC2D1A Zornitza Stark Marked gene: CC2D1A as ready
Mendeliome v0.6667 CC2D1A Zornitza Stark Gene: cc2d1a has been classified as Green List (High Evidence).
Mendeliome v0.6667 CC2D1A Zornitza Stark Phenotypes for gene: CC2D1A were changed from to Autosomal recessive mental retardation, (MIM#608443)
Mendeliome v0.6666 CC2D1A Zornitza Stark Publications for gene: CC2D1A were set to
Mendeliome v0.6665 CC2D1A Zornitza Stark Mode of inheritance for gene: CC2D1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6664 CC2D1A Zornitza Stark reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25066123; Phenotypes: Autosomal recessive mental retardation, (MIM#608443); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6664 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Mendeliome v0.6664 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Mendeliome v0.6664 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from to Immunodeficiency 48, MIM# 269840; Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006
Intellectual disability syndromic and non-syndromic v0.3491 CC2D1A Zornitza Stark Marked gene: CC2D1A as ready
Intellectual disability syndromic and non-syndromic v0.3491 CC2D1A Zornitza Stark Gene: cc2d1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3491 CC2D1A Zornitza Stark Phenotypes for gene: CC2D1A were changed from to Autosomal recessive mental retardation, (MIM#608443)
Intellectual disability syndromic and non-syndromic v0.3490 CC2D1A Zornitza Stark Publications for gene: CC2D1A were set to
Intellectual disability syndromic and non-syndromic v0.3489 CC2D1A Zornitza Stark Mode of inheritance for gene: CC2D1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.177 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Combined Immunodeficiency v0.176 ZAP70 Zornitza Stark edited their review of gene: ZAP70: Changed publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381
Mendeliome v0.6663 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Mendeliome v0.6662 ZAP70 Zornitza Stark Mode of pathogenicity for gene: ZAP70 was changed from to Other
Mendeliome v0.6661 ZAP70 Zornitza Stark Mode of inheritance for gene: ZAP70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6660 ZAP70 Zornitza Stark reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381; Phenotypes: Immunodeficiency 48, MIM# 269840, Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark edited their review of gene: ZAP70: Changed rating: RED
Mendeliome v0.6660 GDF5 Michelle Torres reviewed gene: GDF5: Rating: RED; Mode of pathogenicity: None; Publications: 8589725, 33333243; Phenotypes: ? Hunter-Thompson type acromesomelic dysplasia (MIM#201250) AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3488 CC2D1A Michelle Torres edited their review of gene: CC2D1A: Added comment: 7 NMD predicted reported, no missense (ClinVar, Decipher, LOVD, PMID: 25066123). Severity of ID and presence of cognitive and social features, as well as seizures is variable inter and intra-familial (PMID: 25066123).; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3488 CC2D1A Michelle Torres reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25066123; Phenotypes: Autosomal recessive mental retardation, (MIM#608443), AR; Mode of inheritance: None
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Added comment: Comment when marking as ready: Single family.
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Gene: zap70 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Classified gene: ZAP70 as Red List (low evidence)
Inflammatory bowel disease v0.48 ZAP70 Zornitza Stark Gene: zap70 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.47 ZAP70 Lavvina Thiyagarajan gene: ZAP70 was added
gene: ZAP70 was added to Inflammatory bowel disease. Sources: Other
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZAP70 were set to 26783323
Phenotypes for gene: ZAP70 were set to Autoimmune disease, multisystem, infantile-onset, 2; inflammatory colitis
Penetrance for gene: ZAP70 were set to Complete
Review for gene: ZAP70 was set to AMBER
Added comment: 1 family described - 2 siblings of unrelated Caucasian parents with clinical findings and compound heterozygous missense mutations in ZAP70.
Sources: Other
Inflammatory bowel disease v0.47 NOD2 Lavvina Thiyagarajan reviewed gene: NOD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32463623; Phenotypes: Inflammatory bowel disease, Crohn's disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.134 CST3 Zornitza Stark Classified gene: CST3 as Amber List (moderate evidence)
Early-onset Dementia v0.134 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.133 CST3 Zornitza Stark Tag founder tag was added to gene: CST3.
Early-onset Dementia v0.133 CST3 Zornitza Stark reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.30 CST3 Zornitza Stark Marked gene: CST3 as ready
Vasculitis v0.30 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Vasculitis v0.30 CST3 Zornitza Stark Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, MIM# 105150
Vasculitis v0.29 CST3 Zornitza Stark Publications for gene: CST3 were set to
Vasculitis v0.28 CST3 Zornitza Stark Mode of inheritance for gene: CST3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.27 CST3 Zornitza Stark Classified gene: CST3 as Amber List (moderate evidence)
Vasculitis v0.27 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Vasculitis v0.26 CST3 Zornitza Stark Tag founder tag was added to gene: CST3.
Vasculitis v0.26 CST3 Zornitza Stark reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: 3495457; Phenotypes: Cerebral amyloid angiopathy, MIM# 105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6660 CST3 Zornitza Stark Marked gene: CST3 as ready
Mendeliome v0.6660 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6660 CST3 Zornitza Stark Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, MIM# 105150
Mendeliome v0.6659 CST3 Zornitza Stark Publications for gene: CST3 were set to
Mendeliome v0.6658 CST3 Zornitza Stark Mode of inheritance for gene: CST3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6657 CST3 Zornitza Stark Classified gene: CST3 as Amber List (moderate evidence)
Mendeliome v0.6657 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6656 CST3 Zornitza Stark Tag founder tag was added to gene: CST3.
Mendeliome v0.6656 CST3 Zornitza Stark reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: 3495457; Phenotypes: Cerebral amyloid angiopathy, MIM# 105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.244 CST3 Zornitza Stark Marked gene: CST3 as ready
Regression v0.244 CST3 Zornitza Stark Gene: cst3 has been classified as Red List (Low Evidence).
Regression v0.244 CST3 Zornitza Stark Classified gene: CST3 as Red List (low evidence)
Regression v0.244 CST3 Zornitza Stark Gene: cst3 has been classified as Red List (Low Evidence).
Regression v0.243 CST3 Zornitza Stark reviewed gene: CST3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Stroke v0.80 CST3 Zornitza Stark Tag founder tag was added to gene: CST3.
Stroke v0.80 CST3 Zornitza Stark Marked gene: CST3 as ready
Stroke v0.80 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Stroke v0.80 CST3 Zornitza Stark Phenotypes for gene: CST3 were changed from Hereditary cerebral amyloid angiopathy, Icelandic type, MIM#105150 to Cerebral amyloid angiopathy, MIM# 105150
Stroke v0.79 CST3 Zornitza Stark Phenotypes for gene: CST3 were changed from Hereditary cerebral amyloid angiopathy, Icelandic type to Hereditary cerebral amyloid angiopathy, Icelandic type, MIM#105150
Stroke v0.78 CST3 Zornitza Stark Publications for gene: CST3 were set to
Stroke v0.77 CST3 Zornitza Stark Classified gene: CST3 as Amber List (moderate evidence)
Stroke v0.77 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Stroke v0.76 CST3 Zornitza Stark reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: 3495457; Phenotypes: Cerebral amyloid angiopathy, MIM# 105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6656 NR3C1 Zornitza Stark Marked gene: NR3C1 as ready
Mendeliome v0.6656 NR3C1 Zornitza Stark Gene: nr3c1 has been classified as Green List (High Evidence).
Mendeliome v0.6656 NR3C1 Zornitza Stark Phenotypes for gene: NR3C1 were changed from to Glucocorticoid resistance, OMIM # 615962
Mendeliome v0.6655 NR3C1 Zornitza Stark Publications for gene: NR3C1 were set to
Mendeliome v0.6654 NR3C1 Zornitza Stark Mode of inheritance for gene: NR3C1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6653 NR3C1 Zornitza Stark reviewed gene: NR3C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12754700, 1704018, 8445027, 31995340, 30158362; Phenotypes: Glucocorticoid resistance, OMIM # 615962; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.20 NR3C1 Zornitza Stark Marked gene: NR3C1 as ready
Hypertension and Aldosterone disorders v0.20 NR3C1 Zornitza Stark Gene: nr3c1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.20 NR3C1 Chirag Patel Classified gene: NR3C1 as Green List (high evidence)
Hypertension and Aldosterone disorders v0.20 NR3C1 Chirag Patel Gene: nr3c1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.19 NR3C1 Chirag Patel gene: NR3C1 was added
gene: NR3C1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Literature
Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR3C1 were set to PubMed: 12754700, 1704018, 8445027, 31995340
Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance, OMIM # 615962
Review for gene: NR3C1 was set to GREEN
Added comment: Hurley et al. (1991) identified a heterozygous missense mutation in the GCR gene (D641V) in affected members of the kindred originally reported by Vingerhoeds et al. (1976) with generalized glucocorticoid deficiency.

Karl et al. (1993) identified heterozygosity for a 4-bp deletion in the GCR gene in all 3 affected members of a Dutch kindred with glucocorticoid resistance.

Bray and Cotton (2003) stated that a total of 15 missense, 3 nonsense, 3 frameshift, 1 splice site, and 2 alternatively spliced mutations had been reported in the NR3C1 gene to be associated with glucocorticoid resistance. Sixteen polymorphisms in the gene had also been reported.
Sources: Literature
Stroke v0.76 TTR Zornitza Stark Marked gene: TTR as ready
Stroke v0.76 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Stroke v0.76 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Amyloidogenic transthyretin amyloidosis to Amyloidosis, hereditary, transthyretin-related, MIM# 105210
Stroke v0.75 TTR Zornitza Stark Publications for gene: TTR were set to
Stroke v0.74 TTR Zornitza Stark reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32789836, 12771253; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM# 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.74 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Stroke v0.74 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Stroke v0.74 WFS1 Zornitza Stark Classified gene: WFS1 as Red List (low evidence)
Stroke v0.74 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Mendeliome v0.6653 YY1AP1 Zornitza Stark Publications for gene: YY1AP1 were set to
Mendeliome v0.6652 YY1AP1 Zornitza Stark commented on gene: YY1AP1: Grange syndrome: multiple arterial stenoses, severe early onset hypertension, fibromuscular dysplasia, variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Missense variant reported PMID: 31633303 with moyamoya like phenotype in adult case; fibroblasts suggest that the p.Pro360Leu variant decreases the stability of the YY1AP1 protein but most LOF. PMID: 30556293 non coding variants reported (intronic variants leading to aberrant splicing)
Mendeliome v0.6652 YY1AP1 Zornitza Stark edited their review of gene: YY1AP1: Changed publications: 31633303, 30356112, 31270375, 22987684, 16691574, 27939641, 30556293
Stroke v0.73 YY1AP1 Zornitza Stark Marked gene: YY1AP1 as ready
Stroke v0.73 YY1AP1 Zornitza Stark Gene: yy1ap1 has been classified as Green List (High Evidence).
Stroke v0.73 YY1AP1 Zornitza Stark Publications for gene: YY1AP1 were set to 31633303; 30356112; 31270375; 22987684; 16691574
Stroke v0.72 CTSA Zornitza Stark Marked gene: CTSA as ready
Stroke v0.72 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Stroke v0.72 CTSA Zornitza Stark Publications for gene: CTSA were set to 27664989; 31177426; 23175731
Stroke v0.71 CTSA Zornitza Stark Tag founder tag was added to gene: CTSA.
Stroke v0.71 CTSA Zornitza Stark Classified gene: CTSA as Green List (high evidence)
Stroke v0.71 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Stroke v0.70 CTSA Zornitza Stark changed review comment from: 19 individuals reported, but single founder variant, c.973C>T; p.R325C.

Bi-allelic variants in this gene are associated with galactosialidosis.; to: Borderline Green/Amber. 19 individuals reported, but single founder variant, c.973C>T; p.R325C.

Bi-allelic variants in this gene are associated with galactosialidosis.
Stroke v0.70 CTSA Zornitza Stark edited their review of gene: CTSA: Changed rating: GREEN
Stroke v0.70 CTSA Zornitza Stark reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: None; Publications: 32842921, 31177426; Phenotypes: Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.70 TTR Natasha Brown reviewed gene: TTR: Rating: ; Mode of pathogenicity: None; Publications: PMID: 32789836, 12771253; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.70 WFS1 Natasha Brown reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Stroke v0.70 YY1AP1 Natasha Brown reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31270375, 31633303, 27939641, 30556293; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.70 CTSA Natasha Brown reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32842921, 31177426; Phenotypes: cerebral microangiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.70 HBB Zornitza Stark Marked gene: HBB as ready
Stroke v0.70 HBB Zornitza Stark Gene: hbb has been classified as Green List (High Evidence).
Stroke v0.70 HBB Zornitza Stark Tag SV/CNV tag was added to gene: HBB.
Stroke v0.70 ABCA1 Zornitza Stark Marked gene: ABCA1 as ready
Stroke v0.70 ABCA1 Zornitza Stark Gene: abca1 has been classified as Green List (High Evidence).
Mendeliome v0.6652 NOS3 Zornitza Stark Marked gene: NOS3 as ready
Mendeliome v0.6652 NOS3 Zornitza Stark Gene: nos3 has been classified as Red List (Low Evidence).
Mendeliome v0.6652 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from to {Hypertension, susceptibility to}, MIM#145500; {Ischemic stroke, susceptibility to}, MIM# 601367; {Hypertension, pregnancy-induced}, MIM# 189800
Mendeliome v0.6651 NOS3 Zornitza Stark Publications for gene: NOS3 were set to
Mendeliome v0.6650 NOS3 Zornitza Stark Classified gene: NOS3 as Red List (low evidence)
Mendeliome v0.6650 NOS3 Zornitza Stark Gene: nos3 has been classified as Red List (Low Evidence).
Mendeliome v0.6649 NOS3 Zornitza Stark reviewed gene: NOS3: Rating: RED; Mode of pathogenicity: None; Publications: 24986538, 28084234, 33652340; Phenotypes: {Hypertension, susceptibility to}, MIM#145500, {Ischemic stroke, susceptibility to}, MIM# 601367, {Hypertension, pregnancy-induced}, MIM# 189800; Mode of inheritance: Unknown
Stroke v0.70 NOS3 Zornitza Stark Marked gene: NOS3 as ready
Stroke v0.70 NOS3 Zornitza Stark Gene: nos3 has been classified as Red List (Low Evidence).
Stroke v0.70 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from to {Ischemic stroke, susceptibility to} MIM#601367
Stroke v0.69 NOS3 Zornitza Stark Publications for gene: NOS3 were set to
Stroke v0.68 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Stroke v0.68 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Stroke v0.68 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia type to Citrullinemia, MIM# 215700
Stroke v0.67 ASS1 Zornitza Stark reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, MIM# 215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.67 APP Zornitza Stark Marked gene: APP as ready
Stroke v0.67 APP Zornitza Stark Gene: app has been classified as Green List (High Evidence).
Stroke v0.67 APP Zornitza Stark Phenotypes for gene: APP were changed from Cerebral amyloid angiopathy, APP-related to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714; Cerebral amyloid angiopathy, APP-related
Stroke v0.66 APP Zornitza Stark Publications for gene: APP were set to
Stroke v0.65 APP Zornitza Stark reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16178030, 11409420, 16612981; Phenotypes: Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.65 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Stroke v0.65 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Stroke v0.65 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from Polyarteritis nodosa; Sneddon syndrome 182410 to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688
Stroke v0.64 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Stroke v0.63 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32892503; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.63 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Stroke v0.63 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Stroke v0.63 ACVRL1 Zornitza Stark Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Stroke v0.62 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.62 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Stroke v0.62 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Stroke v0.62 ACAD9 Zornitza Stark changed review comment from: Well established gene-disease association, stroke, especially cerebellar stroke reported.; to: Well established gene-disease association, cerebellar stroke reported.
Stroke v0.62 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Stroke v0.62 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Stroke v0.62 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from Acyl-CoA dehydrogenase family, member 9, deficiency of to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Stroke v0.61 NOS3 Natasha Brown reviewed gene: NOS3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24986538, 28084234; Phenotypes: ; Mode of inheritance: Unknown
Stroke v0.61 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Stroke v0.60 ACAD9 Zornitza Stark edited their review of gene: ACAD9: Changed publications: 17564966
Stroke v0.60 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.60 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Stroke v0.60 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Stroke v0.60 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum, forme fruste to Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM# 177850
Stroke v0.59 ABCC6 Zornitza Stark Mode of inheritance for gene: ABCC6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stroke v0.58 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum, MIM# 264800, Pseudoxanthoma elasticum, forme fruste, MIM# 177850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.57 Zornitza Stark Panel name changed from Stroke_Adult to Stroke
Leukodystrophy v0.215 SDHB Zornitza Stark Marked gene: SDHB as ready
Leukodystrophy v0.215 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Leukodystrophy v0.215 SDHB Zornitza Stark Publications for gene: SDHB were set to
Leukodystrophy v0.214 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial Leukoencephalopathy; complex II deficiency to Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224; Complex II deficiency; mitochondrial leucoencephalopathy
Leukodystrophy v0.213 SDHB Zornitza Stark edited their review of gene: SDHB: Changed phenotypes: Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224, Complex II deficiency, mitochondrial leucoencephalopathy
Mitochondrial disease v0.583 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from Complex II deficiency; mitochondrial leucoencephalopathy to Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224; Complex II deficiency; mitochondrial leucoencephalopathy
Mitochondrial disease v0.582 SDHB Zornitza Stark edited their review of gene: SDHB: Changed phenotypes: Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224, Complex II deficiency, mitochondrial leucoencephalopathy
Additional findings_Paediatric v0.201 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Additional findings_Paediatric v0.201 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Microcephaly v0.544 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Microcephaly v0.544 CENPJ Zornitza Stark Gene: cenpj has been classified as Green List (High Evidence).
Microcephaly v0.544 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358
Microcephaly v0.543 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Microcephaly v0.542 CENPJ Zornitza Stark Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.541 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 16900296, 2097801822775483, 20522431, 32677750, 32549991, 30626697; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.201 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431
Additional findings_Paediatric v0.200 CDT1 Zornitza Stark Publications for gene: CDT1 were set to
Additional findings_Paediatric v0.199 CDT1 Zornitza Stark Classified gene: CDT1 as Green List (high evidence)
Additional findings_Paediatric v0.199 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.198 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6649 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Mendeliome v0.6649 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Mendeliome v0.6649 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431
Mendeliome v0.6648 CDT1 Zornitza Stark Publications for gene: CDT1 were set to
Mendeliome v0.6647 CDT1 Zornitza Stark Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6646 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.541 CDT1 Zornitza Stark changed review comment from: Established gene-disease association, microcephaly is part of the phenotype.; to: Established gene-disease association, more than 5 unrelated families reported. Microcephaly is part of the phenotype.
Microcephaly v0.541 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Microcephaly v0.541 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Microcephaly v0.541 CDT1 Zornitza Stark Publications for gene: CDT1 were set to
Microcephaly v0.540 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431
Microcephaly v0.539 CDT1 Zornitza Stark Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.538 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.134 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Autism v0.134 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Autism v0.134 DYRK1A Zornitza Stark Tag SV/CNV tag was added to gene: DYRK1A.
Autism v0.134 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7, MIM# 614104; MONDO:0013578
Autism v0.133 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Autism v0.132 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.131 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 21294719, 23160955, 23099646, 33159716; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104, MONDO:0013578; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1032 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Genetic Epilepsy v0.1032 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1032 DYRK1A Zornitza Stark Tag SV/CNV tag was added to gene: DYRK1A.
Genetic Epilepsy v0.1032 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7, MIM# 614104; MONDO:0013578
Microcephaly v0.538 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to 21294719; 23160955; 23099646; 33159716
Genetic Epilepsy v0.1031 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Microcephaly v0.537 DYRK1A Zornitza Stark edited their review of gene: DYRK1A: Changed publications: 21294719, 23160955, 23099646, 33159716, 25707398
Genetic Epilepsy v0.1030 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1029 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 21294719, 23160955, 23099646, 33159716; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104, MONDO:0013578; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6646 DYRK1A Zornitza Stark Tag SV/CNV tag was added to gene: DYRK1A.
Microcephaly v0.537 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Microcephaly v0.537 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Microcephaly v0.537 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7, MIM# 614104; MONDO:0013578
Microcephaly v0.536 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Microcephaly v0.535 DYRK1A Zornitza Stark Tag SV/CNV tag was added to gene: DYRK1A.
Microcephaly v0.535 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.534 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21294719, 23160955, 23099646, 33159716; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104, MONDO:0013578; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.253 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Callosome v0.253 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Callosome v0.253 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Callosome v0.252 CDK5RAP2 Zornitza Stark Publications for gene: CDK5RAP2 were set to
Callosome v0.251 CDK5RAP2 Zornitza Stark Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.250 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Red List (low evidence)
Callosome v0.250 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Callosome v0.249 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: RED; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.58 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Deafness_IsolatedAndComplex v1.58 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.58 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.58 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.57 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP2 were set to 15793586; 22887808; 23995685; 23726037; 27761245; 20460369; 32677750; 32015000
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Review for gene: CDK5RAP2 was set to GREEN
Added comment: More than 10 unrelated families and an animal model support gene-disease association. In addition to microcephaly and ID, a recent series of 7 deeply phenotyped individuals also reported small cochlea with incomplete partition type II was found in all cases, which was associated with progressive deafness in 4. Microphthalmia was also present in all along with retinal pigmentation changes and lipofuscin deposits. Finally, hypothalamic anomalies consisting of interhypothalamic adhesions, a congenital midline defect usually associated with holoprosencephaly, was detected in 5 cases.
Sources: Expert Review
Additional findings_Paediatric v0.198 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Additional findings_Paediatric v0.198 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.198 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from Microcephaly 3, primary, autosomal recessive to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Additional findings_Paediatric v0.197 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence)
Additional findings_Paediatric v0.197 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.196 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3488 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Intellectual disability syndromic and non-syndromic v0.3488 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3488 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Intellectual disability syndromic and non-syndromic v0.3487 CDK5RAP2 Zornitza Stark Publications for gene: CDK5RAP2 were set to
Intellectual disability syndromic and non-syndromic v0.3486 CDK5RAP2 Zornitza Stark Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3485 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.534 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Mendeliome v0.6646 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Mendeliome v0.6646 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Mendeliome v0.6646 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Mendeliome v0.6645 CDK5RAP2 Zornitza Stark Publications for gene: CDK5RAP2 were set to
Mendeliome v0.6644 CDK5RAP2 Zornitza Stark Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.533 CDK5RAP2 Zornitza Stark Publications for gene: CDK5RAP2 were set to
Mendeliome v0.6643 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.532 CDK5RAP2 Zornitza Stark Mode of inheritance for gene: CDK5RAP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.532 CDK5RAP2 Zornitza Stark Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.531 CDK5RAP2 Zornitza Stark edited their review of gene: CDK5RAP2: Changed phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488
Microcephaly v0.531 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.47 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Inflammatory bowel disease v0.47 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.47 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM#222470; Colitis; Pancolitis; Inflammatory bowel disease-like phenotype; Very Early Onset Inflammatory Bowel Disease
Inflammatory bowel disease v0.46 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Inflammatory bowel disease v0.45 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6643 UGT2B17 Zornitza Stark Marked gene: UGT2B17 as ready
Mendeliome v0.6643 UGT2B17 Zornitza Stark Gene: ugt2b17 has been classified as Red List (Low Evidence).
Mendeliome v0.6643 UGT2B17 Zornitza Stark Classified gene: UGT2B17 as Red List (low evidence)
Mendeliome v0.6643 UGT2B17 Zornitza Stark Gene: ugt2b17 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.44 TTC37 Lavvina Thiyagarajan reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 29334452, 27302973; Phenotypes: Trichohepatoenteric syndrome 1, Colitis, Pancolitis, Inflammatory bowel disease-like phenotype, Very Early Onset Inflammatory Bowel Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6642 UGT2B17 Ain Roesley reviewed gene: UGT2B17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cardiomyopathy_Paediatric v0.50 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Cardiomyopathy_Paediatric v0.50 PLD1 Zornitza Stark Gene: pld1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.50 PLD1 Zornitza Stark Classified gene: PLD1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.50 PLD1 Zornitza Stark Gene: pld1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.49 PLD1 Zornitza Stark Tag founder tag was added to gene: PLD1.
Cardiomyopathy_Paediatric v0.49 PLD1 Zornitza Stark gene: PLD1 was added
gene: PLD1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 27799408; 33645542
Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy
Review for gene: PLD1 was set to GREEN
Added comment: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).
Sources: Literature
Mendeliome v0.6642 PLD1 Zornitza Stark changed review comment from: Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy; to: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).
Mendeliome v0.6642 PLD1 Zornitza Stark Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM# 212093 to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy
Mendeliome v0.6641 PLD1 Zornitza Stark Publications for gene: PLD1 were set to 27799408
Mendeliome v0.6640 PLD1 Zornitza Stark Classified gene: PLD1 as Green List (high evidence)
Mendeliome v0.6640 PLD1 Zornitza Stark Gene: pld1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.91 PLD1 Zornitza Stark Tag founder tag was added to gene: PLD1.
Mendeliome v0.6639 PLD1 Zornitza Stark reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799408, 33645542; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.91 PLD1 Zornitza Stark Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM# 212093 to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy
Congenital Heart Defect v0.90 PLD1 Zornitza Stark Publications for gene: PLD1 were set to 27799408
Congenital Heart Defect v0.89 PLD1 Zornitza Stark Classified gene: PLD1 as Green List (high evidence)
Congenital Heart Defect v0.89 PLD1 Zornitza Stark Gene: pld1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.88 PLD1 Zornitza Stark edited their review of gene: PLD1: Added comment: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).; Changed rating: GREEN; Changed publications: 27799408, 33645542; Changed phenotypes: Cardiac valvular defect, developmental, MIM# 212093
Skeletal Dysplasia_Fetal v0.49 DONSON Zornitza Stark Marked gene: DONSON as ready
Skeletal Dysplasia_Fetal v0.49 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.49 DONSON Zornitza Stark Classified gene: DONSON as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.49 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.48 DONSON Zornitza Stark gene: DONSON was added
gene: DONSON was added to Skeletal Dysplasia_Fetal. Sources: Expert Review
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DONSON were set to 28191891; 28630177; 28191891
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619
Review for gene: DONSON was set to GREEN
Added comment: MISSLA, MIM# 617604 is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly (-2.4 to -10.7 SD), variable short stature (-1.2 SD to -4 SD, although 1 individual had stature of -8.4 SD), and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development. At least 20 unrelated families reported.

Microcephaly-micromelia syndrome (MIM#251230), is a more severe disorder that usually results in intrauterine or perinatal death. Multiple affected individuals reported with homozygous c.1047-9A-G variant, from different ethnicities.
Sources: Expert Review
Skeletal dysplasia v0.86 DONSON Zornitza Stark Marked gene: DONSON as ready
Skeletal dysplasia v0.86 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Skeletal dysplasia v0.86 DONSON Zornitza Stark Classified gene: DONSON as Green List (high evidence)
Skeletal dysplasia v0.86 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Skeletal dysplasia v0.85 DONSON Zornitza Stark gene: DONSON was added
gene: DONSON was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DONSON were set to 28191891; 28630177; 28191891
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230
Review for gene: DONSON was set to GREEN
Added comment: MISSLA, MIM# 617604 is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly (-2.4 to -10.7 SD), variable short stature (-1.2 SD to -4 SD, although 1 individual had stature of -8.4 SD), and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development. At least 20 unrelated families reported.

Microcephaly-micromelia syndrome (MIM#251230), is a more severe disorder that usually results in intrauterine or perinatal death. Multiple affected individuals reported with homozygous c.1047-9A-G variant, from different ethnicities.
Sources: Expert Review
Mendeliome v0.6639 DONSON Zornitza Stark Marked gene: DONSON as ready
Mendeliome v0.6639 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Mendeliome v0.6639 DONSON Zornitza Stark Phenotypes for gene: DONSON were changed from to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619
Mendeliome v0.6638 DONSON Zornitza Stark Publications for gene: DONSON were set to
Mendeliome v0.6637 DONSON Zornitza Stark Mode of inheritance for gene: DONSON was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6636 DONSON Zornitza Stark reviewed gene: DONSON: Rating: GREEN; Mode of pathogenicity: None; Publications: 28191891, 28630177, 28191891; Phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230, MONDO:0009619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.531 DONSON Zornitza Stark Phenotypes for gene: DONSON were changed from Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230 to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619
Microcephaly v0.530 DONSON Zornitza Stark Marked gene: DONSON as ready
Microcephaly v0.530 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Microcephaly v0.530 DONSON Zornitza Stark Phenotypes for gene: DONSON were changed from to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230
Microcephaly v0.529 DONSON Zornitza Stark Publications for gene: DONSON were set to
Microcephaly v0.528 DONSON Zornitza Stark Mode of inheritance for gene: DONSON was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.527 DONSON Zornitza Stark reviewed gene: DONSON: Rating: GREEN; Mode of pathogenicity: None; Publications: 28191891, 28630177, 28191891]; Phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.527 ATRX Zornitza Stark Marked gene: ATRX as ready
Microcephaly v0.527 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Microcephaly v0.527 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580; Alpha-thalassemia/mental retardation syndrome, MIM# 301040
Microcephaly v0.526 ATRX Zornitza Stark Mode of inheritance for gene: ATRX 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)
Microcephaly v0.525 ATRX Zornitza Stark reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580, Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6636 SQOR Zornitza Stark Marked gene: SQOR as ready
Mendeliome v0.6636 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6636 SQOR Zornitza Stark Phenotypes for gene: SQOR were changed from Leigh-like disorder to Leigh-like disorder; Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Mendeliome v0.6635 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mendeliome v0.6635 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6634 SQOR Zornitza Stark edited their review of gene: SQOR: Changed phenotypes: Leigh-like disorder, Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Mitochondrial disease v0.582 SQOR Zornitza Stark Phenotypes for gene: SQOR were changed from Leigh-like disorder to Leigh-like disorder; Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Mitochondrial disease v0.581 SQOR Zornitza Stark edited their review of gene: SQOR: Changed phenotypes: Leigh-like disorder, Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Hydrops fetalis v0.201 CTSA Zornitza Stark Marked gene: CTSA as ready
Hydrops fetalis v0.201 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Hydrops fetalis v0.201 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from to Galactosialidosis, MIM# 256540
Hydrops fetalis v0.200 CTSA Zornitza Stark Publications for gene: CTSA were set to
Hydrops fetalis v0.199 CTSA Zornitza Stark Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.198 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8514852, 8968752; Phenotypes: Galactosialidosis, MIM# 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.67 CTSA Zornitza Stark Marked gene: CTSA as ready
Lysosomal Storage Disorder v0.67 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.67 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from to Galactosialidosis, MIM# 256540
Lysosomal Storage Disorder v0.66 CTSA Zornitza Stark Publications for gene: CTSA were set to
Lysosomal Storage Disorder v0.65 CTSA Zornitza Stark Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.64 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8514852, 8968752; Phenotypes: Galactosialidosis, MIM# 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.190 SYCP2L Zornitza Stark Marked gene: SYCP2L as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.190 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.190 SYCP2L Zornitza Stark Classified gene: SYCP2L as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.190 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.189 SYCP2L Zornitza Stark gene: SYCP2L was added
gene: SYCP2L was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency
Review for gene: SYCP2L was set to AMBER
Added comment: - PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.
In vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing.
Sources: Literature
Glycogen Storage Diseases v1.0 Zornitza Stark promoted panel to version 1.0
Glycogen Storage Diseases v0.85 PGAM2 Zornitza Stark Marked gene: PGAM2 as ready
Glycogen Storage Diseases v0.85 PGAM2 Zornitza Stark Gene: pgam2 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.85 PGAM2 Zornitza Stark Phenotypes for gene: PGAM2 were changed from to Glycogen storage disease X, MIM# 261670
Glycogen Storage Diseases v0.84 PGAM2 Zornitza Stark Publications for gene: PGAM2 were set to
Glycogen Storage Diseases v0.83 PGAM2 Zornitza Stark Mode of inheritance for gene: PGAM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.82 PGAM2 Zornitza Stark reviewed gene: PGAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8447317; Phenotypes: Glycogen storage disease X, MIM# 261670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v0.83 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency 300653 to Phosphoglycerate kinase 1 deficiency 300653; MONDO:0010392
Mendeliome v0.6634 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency, MIM# 300653 to Phosphoglycerate kinase 1 deficiency, MIM# 300653; MONDO:0010392
Glycogen Storage Diseases v0.82 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency, MIM# 300653 to Phosphoglycerate kinase 1 deficiency, MIM# 300653; MONDO:0010392
Intellectual disability syndromic and non-syndromic v0.3485 PGK1 Zornitza Stark Marked gene: PGK1 as ready
Intellectual disability syndromic and non-syndromic v0.3485 PGK1 Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3485 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from to Phosphoglycerate kinase 1 deficiency, MIM# 300653; MONDO:0010392
Intellectual disability syndromic and non-syndromic v0.3484 PGK1 Zornitza Stark Mode of inheritance for gene: PGK1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3483 PGK1 Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 6933565, 1547346, 7577653, 9512313; Phenotypes: Phosphoglycerate kinase 1 deficiency, MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6633 PGK1 Zornitza Stark Marked gene: PGK1 as ready
Mendeliome v0.6633 PGK1 Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence).
Mendeliome v0.6633 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from to Phosphoglycerate kinase 1 deficiency, MIM# 300653
Mendeliome v0.6632 PGK1 Zornitza Stark Publications for gene: PGK1 were set to
Mendeliome v0.6631 PGK1 Zornitza Stark Mode of inheritance for gene: PGK1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6630 PGK1 Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 6933565, 1547346, 7577653, 9512313; Phenotypes: Phosphoglycerate kinase 1 deficiency, MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glycogen Storage Diseases v0.81 PGK1 Zornitza Stark Marked gene: PGK1 as ready
Glycogen Storage Diseases v0.81 PGK1 Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.81 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from to Phosphoglycerate kinase 1 deficiency, MIM# 300653
Glycogen Storage Diseases v0.80 PGK1 Zornitza Stark Publications for gene: PGK1 were set to
Glycogen Storage Diseases v0.79 PGK1 Zornitza Stark Mode of inheritance for gene: PGK1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glycogen Storage Diseases v0.78 PGK1 Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 6933565, 1547346, 7577653, 9512313; Phenotypes: Phosphoglycerate kinase 1 deficiency, MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6630 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Mendeliome v0.6630 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Mendeliome v0.6630 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921; Glycogen storage disorder XIV
Mendeliome v0.6629 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Mendeliome v0.6628 PGM1 Zornitza Stark Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6627 PGM1 Zornitza Stark reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19625727, 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921, Glycogen storage disorder XIV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.78 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Glycogen Storage Diseases v0.78 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.78 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921; Glycogen storage disorder XIV
Glycogen Storage Diseases v0.77 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Glycogen Storage Diseases v0.76 PGM1 Zornitza Stark Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.75 PGM1 Zornitza Stark reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19625727, 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921, Glycogen storage disorder XIV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6627 PHKA1 Zornitza Stark Mode of inheritance for gene: PHKA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6626 PHKA1 Zornitza Stark edited their review of gene: PHKA1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6626 PHKA1 Zornitza Stark Marked gene: PHKA1 as ready
Mendeliome v0.6626 PHKA1 Zornitza Stark Gene: phka1 has been classified as Green List (High Evidence).
Mendeliome v0.6626 PHKA1 Zornitza Stark Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, MIM# 300559
Mendeliome v0.6625 PHKA1 Zornitza Stark Publications for gene: PHKA1 were set to
Mendeliome v0.6624 PHKA1 Zornitza Stark Mode of inheritance for gene: PHKA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6623 PHKA1 Zornitza Stark reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874115, 12825073, 9731190; Phenotypes: Muscle glycogenosis, MIM# 300559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glycogen Storage Diseases v0.75 PHKA1 Zornitza Stark Marked gene: PHKA1 as ready
Glycogen Storage Diseases v0.75 PHKA1 Zornitza Stark Gene: phka1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.75 PHKA1 Zornitza Stark Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, MIM# 300559
Glycogen Storage Diseases v0.74 PHKA1 Zornitza Stark Publications for gene: PHKA1 were set to
Glycogen Storage Diseases v0.73 PHKA1 Zornitza Stark Mode of inheritance for gene: PHKA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glycogen Storage Diseases v0.72 PHKA1 Zornitza Stark reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874115, 12825073, 9731190; Phenotypes: Muscle glycogenosis, MIM# 300559; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6623 PHKB Zornitza Stark Marked gene: PHKB as ready
Mendeliome v0.6623 PHKB Zornitza Stark Gene: phkb has been classified as Green List (High Evidence).
Mendeliome v0.6623 PHKB Zornitza Stark Phenotypes for gene: PHKB were changed from to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868
Mendeliome v0.6622 PHKB Zornitza Stark Publications for gene: PHKB were set to
Mendeliome v0.6621 PHKB Zornitza Stark Mode of inheritance for gene: PHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6620 PHKB Zornitza Stark reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9215682, 25266922, 30659246; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750, Glycogen storage disease IXb, MONDO:0009868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.72 PHKB Zornitza Stark Marked gene: PHKB as ready
Glycogen Storage Diseases v0.72 PHKB Zornitza Stark Gene: phkb has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.72 PHKB Zornitza Stark Phenotypes for gene: PHKB were changed from to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868
Glycogen Storage Diseases v0.71 PHKB Zornitza Stark Publications for gene: PHKB were set to
Glycogen Storage Diseases v0.70 PHKB Zornitza Stark Mode of inheritance for gene: PHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.69 PHKB Zornitza Stark reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9215682, 25266922, 30659246; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750, Glycogen storage disease IXb; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6620 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
Mendeliome v0.6620 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Green List (High Evidence).
Mendeliome v0.6620 PHKG2 Zornitza Stark Phenotypes for gene: PHKG2 were changed from to Glycogen storage disease IXc, MIM# 613027
Mendeliome v0.6619 PHKG2 Zornitza Stark Publications for gene: PHKG2 were set to
Mendeliome v0.6618 PHKG2 Zornitza Stark Mode of inheritance for gene: PHKG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6617 PHKG2 Zornitza Stark reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896567, 9384616, 10905889; Phenotypes: Glycogen storage disease IXc, MIM# 613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.69 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
Glycogen Storage Diseases v0.69 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.4 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
Liver Failure_Paediatric v1.4 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.4 PHKG2 Zornitza Stark Classified gene: PHKG2 as Green List (high evidence)
Liver Failure_Paediatric v1.4 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.69 PHKG2 Zornitza Stark Phenotypes for gene: PHKG2 were changed from to Glycogen storage disease IXc, MIM# 613027
Liver Failure_Paediatric v1.3 PHKG2 Zornitza Stark gene: PHKG2 was added
gene: PHKG2 was added to Liver Failure_Paediatric. Sources: Expert Review
Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHKG2 were set to 8896567; 9384616; 10905889
Phenotypes for gene: PHKG2 were set to Glycogen storage disease IXc, MIM# 613027
Review for gene: PHKG2 was set to GREEN
Added comment: Glycogen storage disease IXc is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis.
Sources: Expert Review
Glycogen Storage Diseases v0.68 PHKG2 Zornitza Stark Publications for gene: PHKG2 were set to
Glycogen Storage Diseases v0.67 PHKG2 Zornitza Stark Mode of inheritance for gene: PHKG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.66 PHKG2 Zornitza Stark reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896567, 9384616, 10905889; Phenotypes: Glycogen storage disease IXc, MIM# 613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.66 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Glycogen Storage Diseases v0.66 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.66 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Glycogen storage disease of heart, lethal congenital, MIM# 261740
Glycogen Storage Diseases v0.65 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to
Glycogen Storage Diseases v0.64 PRKAG2 Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glycogen Storage Diseases v0.63 PRKAG2 Zornitza Stark reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877279, 17667862, 32646569; Phenotypes: Glycogen storage disease of heart, lethal congenital, MIM# 261740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Liver Failure_Paediatric v1.2 PYGL Zornitza Stark Marked gene: PYGL as ready
Liver Failure_Paediatric v1.2 PYGL Zornitza Stark Gene: pygl has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.2 PYGL Zornitza Stark Classified gene: PYGL as Green List (high evidence)
Liver Failure_Paediatric v1.2 PYGL Zornitza Stark Gene: pygl has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.1 PYGL Zornitza Stark gene: PYGL was added
gene: PYGL was added to Liver Failure_Paediatric. Sources: Literature
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGL were set to 32892177
Phenotypes for gene: PYGL were set to Glycogen storage disease VI, MIM# 232700
Review for gene: PYGL was set to GREEN
Added comment: Progression to cirrhosis reported.
Sources: Literature
Mendeliome v0.6617 PYGL Zornitza Stark Marked gene: PYGL as ready
Mendeliome v0.6617 PYGL Zornitza Stark Gene: pygl has been classified as Green List (High Evidence).
Mendeliome v0.6617 PYGL Zornitza Stark Phenotypes for gene: PYGL were changed from to Glycogen storage disease VI, MIM# 232700
Mendeliome v0.6616 PYGL Zornitza Stark Publications for gene: PYGL were set to
Mendeliome v0.6615 PYGL Zornitza Stark Mode of inheritance for gene: PYGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6614 PYGL Zornitza Stark reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 9529348, 9536091, 33505429, 32961316, 32892177; Phenotypes: Glycogen storage disease VI, MIM# 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.63 PYGL Zornitza Stark Marked gene: PYGL as ready
Glycogen Storage Diseases v0.63 PYGL Zornitza Stark Gene: pygl has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.63 PYGL Zornitza Stark Phenotypes for gene: PYGL were changed from to Glycogen storage disease VI, MIM# 232700
Glycogen Storage Diseases v0.62 PYGL Zornitza Stark Publications for gene: PYGL were set to
Glycogen Storage Diseases v0.61 PYGL Zornitza Stark Mode of inheritance for gene: PYGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.60 PYGL Zornitza Stark reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 9529348, 9536091, 33505429, 32961316, 32892177; Phenotypes: Glycogen storage disease VI, MIM# 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1029 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Genetic Epilepsy v0.1029 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1029 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Genetic Epilepsy v0.1028 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Genetic Epilepsy v0.1027 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1026 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.243 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Regression v0.243 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Regression v0.243 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Regression v0.242 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Regression v0.241 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.240 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6614 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Mendeliome v0.6614 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Mendeliome v0.6614 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Mendeliome v0.6613 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Mendeliome v0.6612 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6611 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.60 NHLRC1 Zornitza Stark changed review comment from: Gene is involved in regulating glycogen synthesis. Abnormal intracellular glycogen accumulation is part of the pathogenesis of this disorder.

Well established gene-disease association, multiple families reported.; to: Gene is involved in regulating glycogen synthesis. Abnormal intracellular glycogen accumulation is part of the pathogenesis of this disorder.

Well established gene-disease association, multiple families reported.

The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans.
Glycogen Storage Diseases v0.60 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Glycogen Storage Diseases v0.60 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.60 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Glycogen Storage Diseases v0.59 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Glycogen Storage Diseases v0.58 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.57 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6611 LDHA Zornitza Stark Tag SV/CNV tag was added to gene: LDHA.
Mendeliome v0.6611 LDHA Zornitza Stark Marked gene: LDHA as ready
Mendeliome v0.6611 LDHA Zornitza Stark Gene: ldha has been classified as Green List (High Evidence).
Mendeliome v0.6611 LDHA Zornitza Stark Phenotypes for gene: LDHA were changed from to Glycogen storage disease XI, MIM# 612933
Mendeliome v0.6610 LDHA Zornitza Stark Publications for gene: LDHA were set to
Mendeliome v0.6609 LDHA Zornitza Stark Mode of inheritance for gene: LDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6608 LDHA Zornitza Stark reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2334430, 1959923, 8327147; Phenotypes: Glycogen storage disease XI, MIM# 612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.57 LDHA Zornitza Stark Marked gene: LDHA as ready
Glycogen Storage Diseases v0.57 LDHA Zornitza Stark Gene: ldha has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.57 LDHA Zornitza Stark Phenotypes for gene: LDHA were changed from to Glycogen storage disease XI, MIM# 612933
Glycogen Storage Diseases v0.56 LDHA Zornitza Stark Publications for gene: LDHA were set to
Glycogen Storage Diseases v0.55 LDHA Zornitza Stark Mode of inheritance for gene: LDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.54 LDHA Zornitza Stark Tag SV/CNV tag was added to gene: LDHA.
Glycogen Storage Diseases v0.54 LDHA Zornitza Stark reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2334430, 1959923, 8327147; Phenotypes: Glycogen storage disease XI, MIM# 612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3483 SIAH1 Zornitza Stark Marked gene: SIAH1 as ready
Intellectual disability syndromic and non-syndromic v0.3483 SIAH1 Zornitza Stark Gene: siah1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3483 SIAH1 Zornitza Stark Classified gene: SIAH1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3483 SIAH1 Zornitza Stark Gene: siah1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3482 SIAH1 Zornitza Stark gene: SIAH1 was added
gene: SIAH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Review for gene: SIAH1 was set to GREEN
Added comment: - PMID: 32430360 (2021) - Five unrelated individuals with shared features of developmental delay, infantile hypotonia, dysmorphic features and laryngomalacia. All had speech delay and where cognitive assessment was age appropriate individuals exhibited learning difficulties. Trio WES revealed distinct de novo variants in SIAH1. In vitro assays demonstrated that SIAH1 mutants induce loss of Wnt stimulatory activity.
Sources: Literature
Mendeliome v0.6608 SIAH1 Zornitza Stark Marked gene: SIAH1 as ready
Mendeliome v0.6608 SIAH1 Zornitza Stark Gene: siah1 has been classified as Green List (High Evidence).
Mendeliome v0.6608 SIAH1 Zornitza Stark Classified gene: SIAH1 as Green List (high evidence)
Mendeliome v0.6608 SIAH1 Zornitza Stark Gene: siah1 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.6607 RPL18 Zornitza Stark Marked gene: RPL18 as ready
Mendeliome v0.6607 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6607 RPL18 Zornitza Stark Classified gene: RPL18 as Amber List (moderate evidence)
Mendeliome v0.6607 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6606 RPL18 Zornitza Stark gene: RPL18 was added
gene: RPL18 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL18 were set to 28280134; 32075953
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM# 618310
Review for gene: RPL18 was set to AMBER
Added comment: One family and a zebrafish model.
Sources: Expert list
Diamond Blackfan anaemia v0.81 RPL18 Zornitza Stark Marked gene: RPL18 as ready
Diamond Blackfan anaemia v0.81 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.81 RPL18 Zornitza Stark Classified gene: RPL18 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.81 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.80 RPL18 Zornitza Stark gene: RPL18 was added
gene: RPL18 was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL18 were set to 28280134; 32075953
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM# 618310
Review for gene: RPL18 was set to AMBER
Added comment: One family and a zebrafish model.
Sources: Expert list
Mendeliome v0.6605 RPS15A Zornitza Stark Marked gene: RPS15A as ready
Mendeliome v0.6605 RPS15A Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence).
Mendeliome v0.6605 RPS15A Zornitza Stark gene: RPS15A was added
gene: RPS15A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15A were set to 27909223
Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313
Review for gene: RPS15A was set to RED
Added comment: Single family reported.
Sources: Expert list
Diamond Blackfan anaemia v0.79 RPS15A Zornitza Stark Marked gene: RPS15A as ready
Diamond Blackfan anaemia v0.79 RPS15A Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.79 RPS15A Zornitza Stark gene: RPS15A was added
gene: RPS15A was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15A were set to 27909223
Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313
Review for gene: RPS15A was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.6604 RPL35 Zornitza Stark Marked gene: RPL35 as ready
Mendeliome v0.6604 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
Mendeliome v0.6604 RPL35 Zornitza Stark gene: RPL35 was added
gene: RPL35 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35 were set to 28280134
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM# 618312
Review for gene: RPL35 was set to RED
Added comment: Single family reported.
Sources: Expert list
Diamond Blackfan anaemia v0.78 RPL35 Zornitza Stark Marked gene: RPL35 as ready
Diamond Blackfan anaemia v0.78 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.78 RPL35 Zornitza Stark gene: RPL35 was added
gene: RPL35 was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35 were set to 28280134
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM# 618312
Review for gene: RPL35 was set to RED
Added comment: Single family reported.
Sources: Expert list
Diamond Blackfan anaemia v0.77 Zornitza Stark removed gene:GATA1 from the panel
Diamond Blackfan anaemia v0.76 Zornitza Stark removed gene:ADA2 from the panel
Bone Marrow Failure v0.196 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Bone Marrow Failure v0.196 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.196 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939
Bone Marrow Failure v0.195 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Bone Marrow Failure v0.194 RPS7 Zornitza Stark Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.193 RPS7 Zornitza Stark reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563, MONDO:0012939; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6603 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Mendeliome v0.6603 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Mendeliome v0.6603 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939
Mendeliome v0.6602 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Mendeliome v0.6601 RPS7 Zornitza Stark Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6600 RPS7 Zornitza Stark reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563, MONDO:0012939; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.75 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Diamond Blackfan anaemia v0.75 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.75 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939
Diamond Blackfan anaemia v0.74 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Diamond Blackfan anaemia v0.73 RPS7 Zornitza Stark Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.72 RPS7 Zornitza Stark reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563, MONDO:0012939; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.193 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Bone Marrow Failure v0.193 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.193 RPS26 Zornitza Stark Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217
Bone Marrow Failure v0.192 RPS26 Zornitza Stark Publications for gene: RPS26 were set to
Bone Marrow Failure v0.191 RPS26 Zornitza Stark Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.190 RPS26 Zornitza Stark reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23812780, 24942156; Phenotypes: Diamond-Blackfan anemia 10, MIM# 613309, MONDO:0013217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6600 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Mendeliome v0.6600 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Mendeliome v0.6600 RPS26 Zornitza Stark Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217
Mendeliome v0.6599 RPS26 Zornitza Stark Publications for gene: RPS26 were set to
Mendeliome v0.6598 RPS26 Zornitza Stark Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6597 RPS26 Zornitza Stark reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23812780, 24942156; Phenotypes: Diamond-Blackfan anemia 10, MIM# 613309, MONDO:0013217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.72 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Diamond Blackfan anaemia v0.72 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.72 RPS26 Zornitza Stark Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217
Diamond Blackfan anaemia v0.71 RPS26 Zornitza Stark Publications for gene: RPS26 were set to
Diamond Blackfan anaemia v0.70 RPS26 Zornitza Stark Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.69 RPS26 Zornitza Stark reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23812780, 24942156; Phenotypes: Diamond-Blackfan anemia 10, MIM# 613309, MONDO:0013217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.190 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Bone Marrow Failure v0.190 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.190 RPS24 Zornitza Stark Phenotypes for gene: RPS24 were changed from to Diamond-blackfan anemia 3, MIM# 610629; MONDO:0012529
Bone Marrow Failure v0.189 RPS24 Zornitza Stark Publications for gene: RPS24 were set to
Bone Marrow Failure v0.188 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.187 RPS24 Zornitza Stark reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186470, 23812780, 25946618; Phenotypes: Diamond-blackfan anemia 3, MIM# 610629, MONDO:0012529; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6597 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Mendeliome v0.6597 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Mendeliome v0.6597 RPS24 Zornitza Stark Phenotypes for gene: RPS24 were changed from to Diamond-blackfan anemia 3, MIM# 610629; MONDO:0012529
Mendeliome v0.6596 RPS24 Zornitza Stark Publications for gene: RPS24 were set to
Mendeliome v0.6595 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6594 RPS24 Zornitza Stark reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186470, 23812780, 25946618; Phenotypes: Diamond-blackfan anemia 3, MIM# 610629, MONDO:0012529; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.69 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Diamond Blackfan anaemia v0.69 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.69 RPS24 Zornitza Stark Phenotypes for gene: RPS24 were changed from to Diamond-blackfan anemia 3, MIM# 610629; MONDO:0012529
Diamond Blackfan anaemia v0.68 RPS24 Zornitza Stark Publications for gene: RPS24 were set to
Diamond Blackfan anaemia v0.67 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.66 RPS24 Zornitza Stark reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186470, 23812780, 25946618; Phenotypes: Diamond-blackfan anemia 3, MIM# 610629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.76 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Radial Ray Abnormalities v0.76 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.76 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
Radial Ray Abnormalities v0.75 RPS19 Zornitza Stark Publications for gene: RPS19 were set to
Radial Ray Abnormalities v0.74 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.73 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: 9988267, 10590074; Phenotypes: Diamond-Blackfan anemia 1, MIM# 105650, MONDO:0007110; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6594 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from Diamond-Blackfan anemia 1, MIM# 105650 to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
Bone Marrow Failure v0.187 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Bone Marrow Failure v0.187 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.187 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
Bone Marrow Failure v0.186 RPS19 Zornitza Stark Publications for gene: RPS19 were set to
Diamond Blackfan anaemia v0.66 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from Diamond-Blackfan anemia 1, MIM# 105650 to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
Diamond Blackfan anaemia v0.65 RPS19 Zornitza Stark edited their review of gene: RPS19: Changed phenotypes: Diamond-Blackfan anemia 1, MIM# 105650, MONDO:0007110
Bone Marrow Failure v0.185 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.184 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: 9988267, 10590074; Phenotypes: Diamond-Blackfan anemia 1, MIM# 105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6593 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Mendeliome v0.6593 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Mendeliome v0.6593 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM# 105650
Mendeliome v0.6592 RPS19 Zornitza Stark Publications for gene: RPS19 were set to
Mendeliome v0.6591 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6590 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: 9988267, 10590074; Phenotypes: Diamond-Blackfan anemia 1, MIM# 105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.65 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Diamond Blackfan anaemia v0.65 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.65 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM# 105650
Diamond Blackfan anaemia v0.64 RPS19 Zornitza Stark Publications for gene: RPS19 were set to
Diamond Blackfan anaemia v0.63 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.62 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: 9988267, 10590074; Phenotypes: Diamond-Blackfan anemia 1, MIM# 105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.62 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Diamond Blackfan anaemia v0.62 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.62 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anemia 9, MIM# 613308
Diamond Blackfan anaemia v0.61 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Diamond Blackfan anaemia v0.60 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.59 RPS10 Zornitza Stark reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23718193, 25946618; Phenotypes: Diamond-Blackfan anemia 9, MIM# 613308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6590 ACKR3 Zornitza Stark Phenotypes for gene: ACKR3 were changed from Oculomotor synkinesis; Ptosis to Oculomotor-abducens synkinesis, MIM# 619215
Mendeliome v0.6589 ACKR3 Zornitza Stark reviewed gene: ACKR3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculomotor-abducens synkinesis, MIM# 619215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6589 SIAH1 Arina Puzriakova gene: SIAH1 was added
gene: SIAH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Review for gene: SIAH1 was set to GREEN
Added comment: - PMID: 32430360 (2021) - Five unrelated individuals with shared features of developmental delay, infantile hypotonia, dysmorphic features and laryngomalacia. All had speech delay and where cognitive assessment was age appropriate individuals exhibited learning difficulties. Trio WES revealed distinct de novo variants in SIAH1. In vitro assays demonstrated that SIAH1 mutants induce loss of Wnt stimulatory activity.
Sources: Literature
Mendeliome v0.6589 SYCP2L Zornitza Stark Marked gene: SYCP2L as ready
Mendeliome v0.6589 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6589 SYCP2L Zornitza Stark Classified gene: SYCP2L as Amber List (moderate evidence)
Mendeliome v0.6589 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6588 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Mendeliome v0.6588 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Mendeliome v0.6588 RPL5 Zornitza Stark Phenotypes for gene: RPL5 were changed from to Diamond-Blackfan anemia 6, MIM# 612561; MONDO:0012937
Mendeliome v0.6587 RPL5 Zornitza Stark Publications for gene: RPL5 were set to
Mendeliome v0.6586 RPL5 Zornitza Stark Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6585 RPL5 Zornitza Stark reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 6, MIM# 612561, MONDO:0012937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.56 RPL5 Zornitza Stark edited their review of gene: RPL5: Changed phenotypes: Diamond-Blackfan anemia 6, MIM# 612561, MONDO:0012937
Diamond Blackfan anaemia v0.56 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Diamond Blackfan anaemia v0.56 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.56 RPL5 Zornitza Stark Publications for gene: RPL5 were set to
Diamond Blackfan anaemia v0.55 RPL5 Zornitza Stark Phenotypes for gene: RPL5 were changed from to Diamond-Blackfan anemia 6, MIM# 612561; MONDO:0012937
Diamond Blackfan anaemia v0.54 RPL5 Zornitza Stark Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.53 RPL5 Zornitza Stark reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 6, MIM# 612561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.184 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Bone Marrow Failure v0.184 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Bone Marrow Failure v0.184 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anemia 5, MIM# 612528
Bone Marrow Failure v0.183 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Bone Marrow Failure v0.182 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.181 RPL35A Zornitza Stark reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6585 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
Mendeliome v0.6585 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Mendeliome v0.6585 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Mendeliome v0.6585 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anemia 5, MIM# 612528
Mendeliome v0.6584 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Mendeliome v0.6583 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6582 SYCP2L Arina Puzriakova gene: SYCP2L was added
gene: SYCP2L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYCP2L were set to 32303603
Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency
Review for gene: SYCP2L was set to AMBER
Added comment: - PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.
In vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing.
Sources: Literature
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark changed review comment from: Over 50 unrelated individuals reported.; to: Over 50 unrelated individuals reported. Large deletions common.
Mendeliome v0.6582 RPL35A Zornitza Stark reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
Diamond Blackfan anaemia v0.53 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anemia 5, MIM# 612528
Diamond Blackfan anaemia v0.52 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Diamond Blackfan anaemia v0.51 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.50 RPL35A Zornitza Stark reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6582 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Mendeliome v0.6582 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Mendeliome v0.6582 RPL27 Zornitza Stark Phenotypes for gene: RPL27 were changed from to Diamond-Blackfan anemia 16, MIM# 617408
Mendeliome v0.6581 RPL27 Zornitza Stark Publications for gene: RPL27 were set to
Mendeliome v0.6580 RPL27 Zornitza Stark Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6579 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Mendeliome v0.6579 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Mendeliome v0.6578 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.181 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Bone Marrow Failure v0.181 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.181 RPL27 Zornitza Stark Phenotypes for gene: RPL27 were changed from to Diamond-Blackfan anemia 16, MIM# 617408
Bone Marrow Failure v0.180 RPL27 Zornitza Stark Publications for gene: RPL27 were set to
Bone Marrow Failure v0.179 RPL27 Zornitza Stark Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.178 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Bone Marrow Failure v0.178 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.177 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.50 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Diamond Blackfan anaemia v0.50 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.50 RPL27 Zornitza Stark Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.49 RPL27 Zornitza Stark Publications for gene: RPL27 were set to
Diamond Blackfan anaemia v0.48 RPL27 Zornitza Stark Phenotypes for gene: RPL27 were changed from to Diamond-Blackfan anemia 16, MIM# 617408
Diamond Blackfan anaemia v0.47 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Diamond Blackfan anaemia v0.47 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.47 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Diamond Blackfan anaemia v0.47 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.46 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.177 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Bone Marrow Failure v0.177 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.177 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
Bone Marrow Failure v0.176 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Bone Marrow Failure v0.175 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.174 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562, MONDO:0012938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6578 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Mendeliome v0.6578 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Mendeliome v0.6578 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
Mendeliome v0.6577 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Mendeliome v0.6576 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6575 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562, MONDO:0012938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.46 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Diamond Blackfan anaemia v0.46 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.46 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
Diamond Blackfan anaemia v0.45 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Diamond Blackfan anaemia v0.44 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.43 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562, MONDO:0012938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.43 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Diamond Blackfan anaemia v0.43 GATA1 Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.43 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367; Thrombocytopenia with beta-thalassemia, X-linked, MIM# 314050; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835
Diamond Blackfan anaemia v0.42 GATA1 Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.41 GATA1 Zornitza Stark Classified gene: GATA1 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.41 GATA1 Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.40 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM# 314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.40 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Diamond Blackfan anaemia v0.40 ADA2 Zornitza Stark Gene: ada2 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.40 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688
Diamond Blackfan anaemia v0.39 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Diamond Blackfan anaemia v0.38 ADA2 Zornitza Stark Classified gene: ADA2 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.38 ADA2 Zornitza Stark Gene: ada2 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.37 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Diamond Blackfan anaemia v0.37 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.6575 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6574 PSAP Zornitza Stark edited their review of gene: PSAP: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6574 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 to Gastrointestinal defects and immunodeficiency syndrome, 243150; Very Early Onset Inflammatory Bowel Disease (VEOIBD)
Mendeliome v0.6573 TTC7A Zornitza Stark Publications for gene: TTC7A were set to 30553809; 28936210
Mendeliome v0.6572 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819, 24292712, 23830146, 29174094, 31743734; Phenotypes: Very Early Onset Inflammatory Bowel Disease (VEOIBD); Mode of inheritance: None
Inflammatory bowel disease v0.44 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 to Gastrointestinal defects and immunodeficiency syndrome, 243150; Very Early Onset Inflammatory Bowel Disease (VEOIBD)
Inflammatory bowel disease v0.43 TTC7A Zornitza Stark Publications for gene: TTC7A were set to 30553809; 28936210
Mendeliome v0.6572 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Mendeliome v0.6572 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Mendeliome v0.6572 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Mendeliome v0.6571 CLCN4 Zornitza Stark Publications for gene: CLCN4 were set to
Mendeliome v0.6570 CLCN4 Zornitza Stark Mode of inheritance for gene: CLCN4 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 v0.6569 CLCN4 Zornitza Stark reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844; Phenotypes: Raynaud-Claes syndrome, MIM#300114, intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Autism v0.131 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Autism v0.131 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Autism v0.131 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar to Raynaud-Claes syndrome, MIM# 300114; autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar
Autism v0.130 CLCN4 Zornitza Stark Classified gene: CLCN4 as Green List (high evidence)
Autism v0.130 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Proteinuria v0.156 KIRREL1 Zornitza Stark Phenotypes for gene: KIRREL1 were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 23, MIM# 619201
Proteinuria v0.155 KIRREL1 Zornitza Stark edited their review of gene: KIRREL1: Changed phenotypes: Nephrotic syndrome, type 23, MIM# 619201
Mendeliome v0.6569 KIRREL1 Zornitza Stark Phenotypes for gene: KIRREL1 were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 23, MIM# 619201
Mendeliome v0.6568 KIRREL1 Zornitza Stark edited their review of gene: KIRREL1: Changed phenotypes: Nephrotic syndrome, type 23, MIM# 619201
Autism v0.129 CLCN4 Elizabeth Palmer gene: CLCN4 was added
gene: CLCN4 was added to Autism. Sources: Literature
Mode of inheritance for gene: CLCN4 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: CLCN4 were set to PMID: 27550844
Phenotypes for gene: CLCN4 were set to autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar
Penetrance for gene: CLCN4 were set to Complete
Review for gene: CLCN4 was set to GREEN
gene: CLCN4 was marked as current diagnostic
Added comment: In PMID: 27550844 significant behavioral or mental health issues were noted in 19 (66%) males: hetero-aggressive behavior was reported in 8 males, auto-aggressive behavior in 3 males, repetitive autistic or obsessive–compulsive like behaviors in 7 males and hyperactivity in 3 males.
Sources: Literature
Skeletal Dysplasia_Fetal v0.47 EN1 Zornitza Stark Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark changed review comment from: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
Sources: Literature; to: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Literature
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark edited their review of gene: EN1: Changed phenotypes: ENDOVE syndrome, limb-only type, MIM# 619217, ENDOVE syndrome, limb-brain type, MIM# 619218
Mendeliome v0.6568 EN1 Zornitza Stark Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Mendeliome v0.6567 EN1 Zornitza Stark changed review comment from: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
Sources: Literature; to: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Literature
Mendeliome v0.6567 EN1 Zornitza Stark edited their review of gene: EN1: Changed phenotypes: ENDOVE syndrome, limb-only type, MIM# 619217, ENDOVE syndrome, limb-brain type, MIM# 619218
Inflammatory bowel disease v0.42 TTC7A Lavvina Thiyagarajan reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819, 24292712, 23830146, 29174094, 31743734; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150, Very Early Onset Inflammatory Bowel Disease (VEOIBD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.84 EN1 Zornitza Stark Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Skeletal dysplasia v0.83 EN1 Zornitza Stark changed review comment from: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.

Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.

Mouse model recapitulated the phenotype.
Sources: Literature; to: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.

Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.

Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Literature
Skeletal dysplasia v0.83 EN1 Zornitza Stark edited their review of gene: EN1: Changed phenotypes: ENDOVE syndrome, limb-only type, MIM# 619217, ENDOVE syndrome, limb-brain type, MIM# 619218
Inflammatory bowel disease v0.42 TTC7A Lavvina Thiyagarajan Deleted their review
Inflammatory bowel disease v0.42 TTC7A Lavvina Thiyagarajan reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150, Very Early Onset Inflammatory Bowel Disease (VEOIBD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6567 EN1 Zornitza Stark Tag SV/CNV tag was added to gene: EN1.
Tag 5'UTR tag was added to gene: EN1.
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark Marked gene: EN1 as ready
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark Classified gene: EN1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.45 EN1 Zornitza Stark gene: EN1 was added
gene: EN1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
SV/CNV, 5'UTR tags were added to gene: EN1.
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217
Review for gene: EN1 was set to GREEN
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
Sources: Literature
Mendeliome v0.6567 EN1 Zornitza Stark Marked gene: EN1 as ready
Mendeliome v0.6567 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Mendeliome v0.6567 EN1 Zornitza Stark Classified gene: EN1 as Green List (high evidence)
Mendeliome v0.6567 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Mendeliome v0.6566 EN1 Zornitza Stark gene: EN1 was added
gene: EN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217
Review for gene: EN1 was set to GREEN
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
Sources: Literature
Skeletal dysplasia v0.83 EN1 Zornitza Stark Marked gene: EN1 as ready
Skeletal dysplasia v0.83 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.83 EN1 Zornitza Stark Classified gene: EN1 as Green List (high evidence)
Skeletal dysplasia v0.83 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.82 EN1 Zornitza Stark gene: EN1 was added
gene: EN1 was added to Skeletal dysplasia. Sources: Literature
SV/CNV, 5'UTR tags were added to gene: EN1.
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217
Review for gene: EN1 was set to GREEN
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.

Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.

Mouse model recapitulated the phenotype.
Sources: Literature
Hydrocephalus_Ventriculomegaly v0.79 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Hydrocephalus_Ventriculomegaly v0.79 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.79 EEF2 Zornitza Stark Classified gene: EEF2 as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.79 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.78 EEF2 Zornitza Stark gene: EEF2 was added
gene: EEF2 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus
Review for gene: EEF2 was set to GREEN
Added comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature
Macrocephaly_Megalencephaly v0.59 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Macrocephaly_Megalencephaly v0.59 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.59 EEF2 Zornitza Stark Classified gene: EEF2 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.59 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.58 EEF2 Zornitza Stark gene: EEF2 was added
gene: EEF2 was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus
Review for gene: EEF2 was set to GREEN
Added comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3481 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Intellectual disability syndromic and non-syndromic v0.3481 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3481 EEF2 Zornitza Stark Classified gene: EEF2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3481 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3480 EEF2 Zornitza Stark gene: EEF2 was added
gene: EEF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus
Review for gene: EEF2 was set to GREEN
Added comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature
Regression v0.240 EEF2 Zornitza Stark changed review comment from: Single family reported.; to: Single family reported, adult onset disorder.
Mendeliome v0.6565 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from Neurodevelopmental disorder; macrocephaly; hydrocephalus; Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder, macrocephaly, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306
Mendeliome v0.6564 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from Neurodevelopmental disorder, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder; macrocephaly; hydrocephalus; Spinocerebellar ataxia 26, MIM#609306
Mendeliome v0.6563 EEF2 Zornitza Stark edited their review of gene: EEF2: Added comment: Phenotype reported in PMID 33355653 is distinct from the adult-onset SCA reported in PMID: 23001565. Evidence for association with SCA remains limited.; Changed rating: GREEN; Changed publications: 33355653; Changed phenotypes: Neurodevelopmental disorder, macrocephaly, hydrocephalus
Mendeliome v0.6563 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306
Mendeliome v0.6562 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from Spinocerebellar ataxia 26 to Spinocerebellar ataxia 26, MIM#609306
Mendeliome v0.6561 EEF2 Zornitza Stark Publications for gene: EEF2 were set to 15732118; 23001565
Mendeliome v0.6560 EEF2 Zornitza Stark Classified gene: EEF2 as Green List (high evidence)
Mendeliome v0.6560 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Mendeliome v0.6559 MKRN3 Zornitza Stark Marked gene: MKRN3 as ready
Mendeliome v0.6559 MKRN3 Zornitza Stark Gene: mkrn3 has been classified as Green List (High Evidence).
Mendeliome v0.6559 MKRN3 Zornitza Stark Phenotypes for gene: MKRN3 were changed from to Precocious puberty, central, 2, MIM# 615346
Mendeliome v0.6558 MKRN3 Zornitza Stark Publications for gene: MKRN3 were set to
Mendeliome v0.6557 MKRN3 Zornitza Stark Mode of inheritance for gene: MKRN3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6556 MKRN3 Zornitza Stark Tag SV/CNV tag was added to gene: MKRN3.
Tag 5'UTR tag was added to gene: MKRN3.
Differences of Sex Development v0.202 MKRN3 Zornitza Stark Tag SV/CNV tag was added to gene: MKRN3.
Tag 5'UTR tag was added to gene: MKRN3.
Mendeliome v0.6556 MKRN3 Zornitza Stark reviewed gene: MKRN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31687022, 31041429, 31636607, 32480405; Phenotypes: Precocious puberty, central, 2, MIM# 615346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.202 MKRN3 Zornitza Stark Phenotypes for gene: MKRN3 were changed from central precocious puberty to Precocious puberty, central, 2, MIM# 615346
Differences of Sex Development v0.201 MKRN3 Zornitza Stark Classified gene: MKRN3 as Green List (high evidence)
Differences of Sex Development v0.201 MKRN3 Zornitza Stark Gene: mkrn3 has been classified as Green List (High Evidence).
Mendeliome v0.6556 ACSL5 Zornitza Stark Marked gene: ACSL5 as ready
Mendeliome v0.6556 ACSL5 Zornitza Stark Gene: acsl5 has been classified as Red List (Low Evidence).
Mendeliome v0.6556 ACSL5 Zornitza Stark gene: ACSL5 was added
gene: ACSL5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACSL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSL5 were set to 33191500
Phenotypes for gene: ACSL5 were set to severe FTT (no OMIM #)
Review for gene: ACSL5 was set to RED
Added comment: 6 individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Autozygosity mapping and WES identified homozygous variant (c.1358C>A:p.(Thr453Lys) in ACSL5. Segregated with affected individuals. Functional in vitro analysis of the ACSL5 variant by immunofluorescence, western blotting and enzyme assay suggested that Thr453Lys is a loss‐of‐function mutation without any remaining activity. Affected individuals were treated with total parenteral nutrition or medium‐chain triglyceride‐based formula restricted in long‐chain triglycerides. They responded well and follow up suggests that treatment is only required during early life.
Sources: Literature
Fatty Acid Oxidation Defects v1.1 ACSL5 Zornitza Stark Marked gene: ACSL5 as ready
Fatty Acid Oxidation Defects v1.1 ACSL5 Zornitza Stark Gene: acsl5 has been classified as Red List (Low Evidence).
Mendeliome v0.6555 GDF5 Zornitza Stark Marked gene: GDF5 as ready
Mendeliome v0.6555 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Mendeliome v0.6555 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from to Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)
Mendeliome v0.6554 GDF5 Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.44 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from to Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900)
Skeletal Dysplasia_Fetal v0.43 GDF5 Zornitza Stark Publications for gene: GDF5 were set to
Skeletal Dysplasia_Fetal v0.42 GDF5 Zornitza Stark Mode of pathogenicity for gene: GDF5 was changed from to Other
Skeletal Dysplasia_Fetal v0.41 GDF5 Zornitza Stark Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.40 GDF5 Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33333243; Phenotypes: Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6554 GDF5 Zornitza Stark Publications for gene: GDF5 were set to
Mendeliome v0.6553 GDF5 Zornitza Stark Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.77 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to
Hydrocephalus_Ventriculomegaly v0.76 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Changed publications: 33205811, 28934391, 28934391
Arthrogryposis v0.254 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Arthrogryposis v0.254 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.254 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Amber List (moderate evidence)
Arthrogryposis v0.254 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.253 KIDINS220 Zornitza Stark gene: KIDINS220 was added
gene: KIDINS220 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391
Phenotypes for gene: KIDINS220 were set to cerebral ventriculomegaly; limb contractures
Review for gene: KIDINS220 was set to AMBER
Added comment: 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.

Note mono-allelic variants are associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296.
Sources: Literature
Mendeliome v0.6552 EEF2 Eleanor Williams reviewed gene: EEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23001565, 33355653; Phenotypes: Spinocerebellar ataxia 26 MIM#609306; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hydrocephalus_Ventriculomegaly v0.76 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Hydrocephalus_Ventriculomegaly v0.76 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.76 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.76 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.75 KIDINS220 Zornitza Stark gene: KIDINS220 was added
gene: KIDINS220 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIDINS220 were set to cerebral ventriculomegaly; limb contractures
Review for gene: KIDINS220 was set to AMBER
Added comment: 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.

Note mono-allelic variants are associated with ID/spastic paraplegia.
Sources: Literature
Mendeliome v0.6552 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Mendeliome v0.6552 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Mendeliome v0.6552 KIDINS220 Zornitza Stark Phenotypes for gene: KIDINS220 were changed from to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; cerebral ventriculomegaly; limb contractures
Mendeliome v0.6551 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to
Mendeliome v0.6550 KIDINS220 Zornitza Stark Mode of inheritance for gene: KIDINS220 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6549 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6549 MYO15A Zornitza Stark Phenotypes for gene: MYO15A were changed from Deafness, autosomal recessive 3, MIM# 600316 to Deafness, autosomal recessive 3, MIM# 600316; autosomal recessive nonsyndromic deafness 3 MONDO:0010860
Mendeliome v0.6548 MYO15A Zornitza Stark Publications for gene: MYO15A were set to 27375115; 26226137; 23208854; 19309289; 9603735; 10915760
Deafness_IsolatedAndComplex v1.56 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101 to Deafness, autosomal recessive 30, MIM# 607101; dominant deafness
Deafness_IsolatedAndComplex v1.55 MYO3A Zornitza Stark Publications for gene: MYO3A were set to 21165622; 26754646; 23990876
Deafness_IsolatedAndComplex v1.54 MYO3A Zornitza Stark Mode of inheritance for gene: MYO3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.53 MYO3A Zornitza Stark changed review comment from: Multiple families and animal model data.; to: Multiple families and animal model data support association of bi-allelic variants and deafness.

Variants in this gene has also been associated with autosomal dominant hearing loss in an African American family (PMID: 26841241 Grati et al 2016) and 2 large, remotely-related Brazilian families (PMID: 29880844 - Dantas et al 2018, same variant reported in the 2 families): association of mono-allelic variants with deafness is limited/moderate.
Deafness_IsolatedAndComplex v1.53 MYO3A Zornitza Stark edited their review of gene: MYO3A: Changed publications: 21165622, 26754646, 23990876, 33078831, 26841241, 29880844; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6547 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from to Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774; dominant deafness
Mendeliome v0.6546 MYO3A Zornitza Stark Publications for gene: MYO3A were set to
Mendeliome v0.6545 MYO3A Zornitza Stark Mode of inheritance for gene: MYO3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6544 MYO3A Zornitza Stark reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21165622, 26754646, 23990876; Phenotypes: Deafness, autosomal recessive 30, MIM# 607101; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6544 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Mendeliome v0.6544 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Mendeliome v0.6544 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from to Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome; Deafness
Mendeliome v0.6543 COL9A3 Zornitza Stark Publications for gene: COL9A3 were set to
Mendeliome v0.6542 COL9A3 Zornitza Stark Mode of inheritance for gene: COL9A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6541 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450842, 31090205, 24273071, 10090888, 15551337; Phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969, Stickler syndrome, Deafness; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6541 DLK1 Zornitza Stark Marked gene: DLK1 as ready
Mendeliome v0.6541 DLK1 Zornitza Stark Gene: dlk1 has been classified as Green List (High Evidence).
Mendeliome v0.6541 DLK1 Zornitza Stark Classified gene: DLK1 as Green List (high evidence)
Mendeliome v0.6541 DLK1 Zornitza Stark Gene: dlk1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.200 DLK1 Zornitza Stark edited their review of gene: DLK1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.6540 DLK1 Zornitza Stark gene: DLK1 was added
gene: DLK1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: DLK1 were set to 28324015; 30462238
Phenotypes for gene: DLK1 were set to central precocious puberty
Review for gene: DLK1 was set to GREEN
Added comment: PMID: 30462238 "three frameshift mutations of DLK1 (p.Gly199Alafs*11, p.Val271Cysfs*14, and p.Pro160Leufs*50) in five women from three families with CPP. Segregation analysis was consistent with the maternal imprinting of DLK1". PMID: 28324015 single large family, only affected females, central precocious puberty all carrying paternally inherited LOF variant (del/dup of 5'UTR and exon 1) absent DLK1 expression in all affected. Unclear if males affected as none reported to date.
Sources: Expert Review
Differences of Sex Development v0.200 DLK1 Zornitza Stark Marked gene: DLK1 as ready
Differences of Sex Development v0.200 DLK1 Zornitza Stark Gene: dlk1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.200 DLK1 Zornitza Stark Phenotypes for gene: DLK1 were changed from to central precocious puberty
Differences of Sex Development v0.199 DLK1 Zornitza Stark Publications for gene: DLK1 were set to
Differences of Sex Development v0.198 DLK1 Zornitza Stark Classified gene: DLK1 as Green List (high evidence)
Differences of Sex Development v0.198 DLK1 Zornitza Stark Gene: dlk1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.197 DLK1 Zornitza Stark reviewed gene: DLK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324015, 30462238; Phenotypes: central precocious puberty; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3479 DLK1 Zornitza Stark Marked gene: DLK1 as ready
Intellectual disability syndromic and non-syndromic v0.3479 DLK1 Zornitza Stark Added comment: Comment when marking as ready: Association with central precocious puberty but not ID.
Intellectual disability syndromic and non-syndromic v0.3479 DLK1 Zornitza Stark Gene: dlk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3479 DLK1 Zornitza Stark Classified gene: DLK1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3479 DLK1 Zornitza Stark Gene: dlk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3478 DLK1 Zornitza Stark Publications for gene: DLK1 were set to PMID: 28324015
Intellectual disability syndromic and non-syndromic v0.3477 DLK1 Zornitza Stark Classified gene: DLK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3477 DLK1 Zornitza Stark Gene: dlk1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.197 MKRN3 Natasha Brown Marked gene: MKRN3 as ready
Differences of Sex Development v0.197 MKRN3 Natasha Brown Gene: mkrn3 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.197 MKRN3 Natasha Brown changed review comment from: PMID: 31687022 4 novel missense, c.1138G > A (p.Glu380Lys), c.1420T > A (p.Leu474Met), c.673C > G (p.Leu225Val), and c.1071C > G (p.Ile357Met) in two sporadic cases and three familial cases. ACMG: (p.Glu380Lys and p.Ile357Met) = LP, but (p.Leu474Met) (p.Leu225Val) are VUS.
PMID: 31636607 3 novel promotor variants found in 6 unrelated females; significant reduction of MKRN3 promoter activity using luciferase assays.
PMID: 32480405 - 2 females with whole gene deletions of MKRN3
PMID: 31041429 systematic review/meta analysis: "Patients with MKRN3 mutations presented with signs and symptoms of early reactivation of the hypothalamic-pituitary-gonadal axis, represented by precocious development of sexual characteristics, BA advancement, and pubertal levels of basal or poststimulated LH"
Sources: Literature; to: PMID: 23738509: four (3fs; 1missense) novel heterozygous mutations in MKRN3, in 5 of the 15 families; both sexes were affected; mouse model confirms low expression.
PMID: 31687022 4 novel missense, c.1138G > A (p.Glu380Lys), c.1420T > A (p.Leu474Met), c.673C > G (p.Leu225Val), and c.1071C > G (p.Ile357Met) in two sporadic cases and three familial cases. ACMG: (p.Glu380Lys and p.Ile357Met) = LP, but (p.Leu474Met) (p.Leu225Val) are VUS.
PMID: 31636607 3 novel promotor variants found in 6 unrelated females; significant reduction of MKRN3 promoter activity using luciferase assays.
PMID: 32480405 - 2 females with whole gene deletions of MKRN3
PMID: 31041429 systematic review/meta analysis: "Patients with MKRN3 mutations presented with signs and symptoms of early reactivation of the hypothalamic-pituitary-gonadal axis, represented by precocious development of sexual characteristics, BA advancement, and pubertal levels of basal or poststimulated LH"
Sources: Literature
Differences of Sex Development v0.197 MKRN3 Natasha Brown gene: MKRN3 was added
gene: MKRN3 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: MKRN3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MKRN3 were set to PMID: 31687022; 31041429; 31636607; 32480405
Phenotypes for gene: MKRN3 were set to central precocious puberty
Penetrance for gene: MKRN3 were set to unknown
Review for gene: MKRN3 was set to GREEN
Added comment: PMID: 31687022 4 novel missense, c.1138G > A (p.Glu380Lys), c.1420T > A (p.Leu474Met), c.673C > G (p.Leu225Val), and c.1071C > G (p.Ile357Met) in two sporadic cases and three familial cases. ACMG: (p.Glu380Lys and p.Ile357Met) = LP, but (p.Leu474Met) (p.Leu225Val) are VUS.
PMID: 31636607 3 novel promotor variants found in 6 unrelated females; significant reduction of MKRN3 promoter activity using luciferase assays.
PMID: 32480405 - 2 females with whole gene deletions of MKRN3
PMID: 31041429 systematic review/meta analysis: "Patients with MKRN3 mutations presented with signs and symptoms of early reactivation of the hypothalamic-pituitary-gonadal axis, represented by precocious development of sexual characteristics, BA advancement, and pubertal levels of basal or poststimulated LH"
Sources: Literature
Differences of Sex Development v0.196 DLK1 Natasha Brown gene: DLK1 was added
gene: DLK1 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: DLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Penetrance for gene: DLK1 were set to unknown
Intellectual disability syndromic and non-syndromic v0.3476 DLK1 Natasha Brown reviewed gene: DLK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28324015, PMID: 30462238; Phenotypes: central precocious puberty; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.3476 DLK1 Natasha Brown Source Genetic Health Queensland was removed from DLK1.
Source Literature was added to DLK1.
Mode of inheritance for gene DLK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: DLK1 were changed from to central precocious puberty
Penetrance for gene DLK1 was set from to None
Publications for gene DLK1 were changed from PMID: 28324015 to PMID: 28324015
Fatty Acid Oxidation Defects v1.1 ACSL5 Chirag Patel gene: ACSL5 was added
gene: ACSL5 was added to Fatty Acid Oxidation Defects. Sources: Literature
Mode of inheritance for gene: ACSL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSL5 were set to PMID: 33191500
Phenotypes for gene: ACSL5 were set to severe FTT (no OMIM #)
Review for gene: ACSL5 was set to RED
Added comment: 6 individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Autozygosity mapping and WES identified homozygous variant (c.1358C>A:p.(Thr453Lys) in ACSL5. Segregated with affected individuals.

Functional in vitro analysis of the ACSL5 variant by immunofluorescence, western blotting and enzyme assay suggested that Thr453Lys is a loss‐of‐function mutation without any remaining activity.

Affected individuals were treated with total parenteral nutrition or medium‐chain triglyceride‐based formula restricted in long‐chain triglycerides. They responded well and follow up suggests that treatment is only required during early life.
Sources: Literature
Mendeliome v0.6539 GDF5 Ain Roesley reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33333243; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pain syndromes v0.16 DST Bryony Thompson Marked gene: DST as ready
Pain syndromes v0.16 DST Bryony Thompson Gene: dst has been classified as Green List (High Evidence).
Pain syndromes v0.16 DST Bryony Thompson Classified gene: DST as Green List (high evidence)
Pain syndromes v0.16 DST Bryony Thompson Gene: dst has been classified as Green List (High Evidence).
Pain syndromes v0.15 DST Bryony Thompson gene: DST was added
gene: DST was added to Pain syndromes. Sources: Other
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 28468842; 32528525; 22522446; 30371979
Phenotypes for gene: DST were set to Neuropathy, hereditary sensory and autonomic, type VI MIM#614653
Review for gene: DST was set to GREEN
gene: DST was marked as current diagnostic
Added comment: At least 4 unrelated families reported with pain insensitivity as a feature of the condition.
Sources: Other
Mendeliome v0.6539 KIDINS220 Eleanor Williams reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 33205811, 28934391, 22048169; Phenotypes: cerebral ventriculomegaly, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6539 MYO15A Eleanor Williams reviewed gene: MYO15A: Rating: ; Mode of pathogenicity: None; Publications: 33078831; Phenotypes: Deafness, autosomal recessive 3 OMIM:600316, autosomal recessive nonsyndromic deafness 3 MONDO:0010860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6539 MYO3A Eleanor Williams reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33078831, 26841241, 29880844; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101, autosomal recessive nonsyndromic deafness 30 MONDO:0011774; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6539 COL9A3 Eleanor Williams reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33078831, 15917166; Phenotypes: autosomal recessive non-syndromic hearing impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.525 EIF5A Zornitza Stark Marked gene: EIF5A as ready
Microcephaly v0.525 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Microcephaly v0.525 EIF5A Zornitza Stark Classified gene: EIF5A as Green List (high evidence)
Microcephaly v0.525 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Microcephaly v0.524 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3475 EIF5A Zornitza Stark Marked gene: EIF5A as ready
Intellectual disability syndromic and non-syndromic v0.3475 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3475 EIF5A Zornitza Stark Classified gene: EIF5A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3475 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3474 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Literature
Mendeliome v0.6539 EIF5A Zornitza Stark Marked gene: EIF5A as ready
Mendeliome v0.6539 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Mendeliome v0.6539 EIF5A Zornitza Stark Classified gene: EIF5A as Green List (high evidence)
Mendeliome v0.6539 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Mendeliome v0.6538 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3473 POLRMT Zornitza Stark Marked gene: POLRMT as ready
Intellectual disability syndromic and non-syndromic v0.3473 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3473 POLRMT Zornitza Stark Classified gene: POLRMT as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3473 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3472 POLRMT Zornitza Stark gene: POLRMT was added
gene: POLRMT was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLRMT were set to 33602924
Phenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia
Review for gene: POLRMT was set to GREEN
Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.
Sources: Literature
Mendeliome v0.6537 POLRMT Zornitza Stark Marked gene: POLRMT as ready
Mendeliome v0.6537 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mendeliome v0.6537 POLRMT Zornitza Stark Classified gene: POLRMT as Green List (high evidence)
Mendeliome v0.6537 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mendeliome v0.6536 POLRMT Zornitza Stark gene: POLRMT was added
gene: POLRMT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLRMT were set to 33602924
Phenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia
Review for gene: POLRMT was set to GREEN
Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.
Sources: Literature
Mitochondrial disease v0.581 POLRMT Zornitza Stark Marked gene: POLRMT as ready
Mitochondrial disease v0.581 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mitochondrial disease v0.581 POLRMT Zornitza Stark Publications for gene: POLRMT were set to
Mitochondrial disease v0.580 POLRMT Zornitza Stark Classified gene: POLRMT as Green List (high evidence)
Mitochondrial disease v0.580 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mitochondrial disease v0.579 POLRMT Zornitza Stark edited their review of gene: POLRMT: Changed publications: 33602924
Mitochondrial disease v0.579 POLRMT Zornitza Stark gene: POLRMT was added
gene: POLRMT was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia
Review for gene: POLRMT was set to GREEN
Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.
Sources: Literature
Differences of Sex Development v0.195 CYP19A1 Zornitza Stark Marked gene: CYP19A1 as ready
Differences of Sex Development v0.195 CYP19A1 Zornitza Stark Gene: cyp19a1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.195 CYP19A1 Zornitza Stark Phenotypes for gene: CYP19A1 were changed from to Aromatase deficiency (MIM#613546), AR; Aromatase excess syndrome (MIM#139300), AD
Differences of Sex Development v0.194 CYP19A1 Zornitza Stark Publications for gene: CYP19A1 were set to
Differences of Sex Development v0.193 CYP19A1 Zornitza Stark Mode of inheritance for gene: CYP19A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.192 CYP19A1 Zornitza Stark Tag SV/CNV tag was added to gene: CYP19A1.
Differences of Sex Development v0.192 CYP19A1 Teresa Zhao reviewed gene: CYP19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164303, 25264451; Phenotypes: Aromatase deficiency (MIM#613546), AR, Aromatase excess syndrome (MIM#139300), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.98 PERP Zornitza Stark Phenotypes for gene: PERP were changed from Erythrokeratoderma, no OMIM # yet to Olmsted syndrome 2, MIM# 619208; Erythrokeratodermia variabilis et progressiva 7, MIM# 619209
Palmoplantar Keratoderma and Erythrokeratoderma v0.97 PERP Zornitza Stark Publications for gene: PERP were set to PMID: 31898316
Palmoplantar Keratoderma and Erythrokeratoderma v0.96 PERP Zornitza Stark Mode of inheritance for gene: PERP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.95 PERP Zornitza Stark Classified gene: PERP as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.95 PERP Zornitza Stark Gene: perp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.94 PERP Zornitza Stark Deleted their comment
Palmoplantar Keratoderma and Erythrokeratoderma v0.94 PERP Zornitza Stark edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair. Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6535 PERP Zornitza Stark Phenotypes for gene: PERP were changed from Erythrokeratoderma, no OMIM # yet to Olmsted syndrome 2, MIM# 619208; Erythrokeratodermia variabilis et progressiva 7, MIM# 619209
Mendeliome v0.6534 PERP Zornitza Stark Publications for gene: PERP were set to 31898316
Mendeliome v0.6533 PERP Zornitza Stark Mode of inheritance for gene: PERP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6532 PERP Zornitza Stark Classified gene: PERP as Green List (high evidence)
Mendeliome v0.6532 PERP Zornitza Stark Gene: perp has been classified as Green List (High Evidence).
Mendeliome v0.6531 PERP Zornitza Stark edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair.

Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6531 KARS Zornitza Stark edited their review of gene: KARS: Changed phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Deafness, autosomal recessive 89, MIM# 613916, Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Mendeliome v0.6531 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916 to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Deafness_IsolatedAndComplex v1.53 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Deafness, autosomal recessive 89, MIM# 613916 to Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196; Deafness, autosomal recessive 89, MIM# 613916
Deafness_IsolatedAndComplex v1.52 KARS Zornitza Stark edited their review of gene: KARS: Changed phenotypes: Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Deafness_IsolatedAndComplex v1.52 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6530 KARS Zornitza Stark Marked gene: KARS as ready
Mendeliome v0.6530 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Mendeliome v0.6530 KARS Zornitza Stark Phenotypes for gene: KARS were changed from to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916
Mendeliome v0.6529 KARS Zornitza Stark Publications for gene: KARS were set to
Mendeliome v0.6528 KARS Zornitza Stark Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6527 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 31618474, 28887846, 25330800, 29615062, 30252186, 28496994, 23768514, 14975237; Phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Deafness, autosomal recessive 89, MIM# 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3471 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly
Intellectual disability syndromic and non-syndromic v0.3471 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly
Intellectual disability syndromic and non-syndromic v0.3470 KARS Zornitza Stark edited their review of gene: KARS: Changed phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Combined mitochondrial oxidative phosphorylation deficiency, epilepsy, intellectual disability, microcephaly
Leukodystrophy v0.213 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Deafness, autosomal recessive 89, MIM# 613916; Leukodystrophy to Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Leukodystrophy v0.212 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.578 APOO Zornitza Stark Marked gene: APOO as ready
Mitochondrial disease v0.578 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.578 APOO Zornitza Stark Classified gene: APOO as Amber List (moderate evidence)
Mitochondrial disease v0.578 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.577 APOO Zornitza Stark gene: APOO was added
gene: APOO was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: APOO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: APOO were set to 32439808
Phenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Review for gene: APOO was set to AMBER
Added comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture.
Phenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors.
Functional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies.
Sources: Literature
Mendeliome v0.6527 APOO Zornitza Stark reviewed gene: APOO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6527 APOO Zornitza Stark Marked gene: APOO as ready
Mendeliome v0.6527 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6527 APOO Zornitza Stark Classified gene: APOO as Amber List (moderate evidence)
Mendeliome v0.6527 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6526 APOO Arina Puzriakova gene: APOO was added
gene: APOO was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: APOO 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: APOO were set to 32439808
Phenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Review for gene: APOO was set to RED
Added comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture.
Phenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors.
Functional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies.
Sources: Literature
Mendeliome v0.6526 AMH Zornitza Stark Tag founder tag was added to gene: AMH.
Differences of Sex Development v0.192 AMH Zornitza Stark Tag founder tag was added to gene: AMH.
Mendeliome v0.6526 ECE1 Zornitza Stark Marked gene: ECE1 as ready
Mendeliome v0.6526 ECE1 Zornitza Stark Gene: ece1 has been classified as Red List (Low Evidence).
Mendeliome v0.6526 ECE1 Zornitza Stark Phenotypes for gene: ECE1 were changed from to Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
Mendeliome v0.6525 ECE1 Zornitza Stark Publications for gene: ECE1 were set to
Mendeliome v0.6524 ECE1 Zornitza Stark Mode of inheritance for gene: ECE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6523 ECE1 Zornitza Stark Classified gene: ECE1 as Red List (low evidence)
Mendeliome v0.6523 ECE1 Zornitza Stark Gene: ece1 has been classified as Red List (Low Evidence).
Mendeliome v0.6522 ECE1 Zornitza Stark reviewed gene: ECE1: Rating: RED; Mode of pathogenicity: None; Publications: 9915973, 9449665, 9449664; Phenotypes: Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hirschsprung disease v0.12 ECE1 Zornitza Stark Marked gene: ECE1 as ready
Hirschsprung disease v0.12 ECE1 Zornitza Stark Gene: ece1 has been classified as Red List (Low Evidence).
Hirschsprung disease v0.12 ECE1 Zornitza Stark Phenotypes for gene: ECE1 were changed from ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870 to Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
Mendeliome v0.6522 AMH Seb Lunke Marked gene: AMH as ready
Mendeliome v0.6522 AMH Seb Lunke Gene: amh has been classified as Green List (High Evidence).
Mendeliome v0.6522 AMH Seb Lunke Phenotypes for gene: AMH were changed from to Persistent Mullerian duct syndrome, type I (MIM#261550)
Mendeliome v0.6521 AMH Seb Lunke Publications for gene: AMH were set to
Mendeliome v0.6520 AMH Seb Lunke Mode of inheritance for gene: AMH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6519 AMH Seb Lunke reviewed gene: AMH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32172781; Phenotypes: Persistent Mullerian duct syndrome, type I (MIM#261550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.192 AMH Seb Lunke Marked gene: AMH as ready
Differences of Sex Development v0.192 AMH Seb Lunke Added comment: Comment when marking as ready: 64 different alleles have been discovered in 79 families. There is a common 27-bp deletion in the kinase domain in caucasians.
Differences of Sex Development v0.192 AMH Seb Lunke Gene: amh has been classified as Green List (High Evidence).
Differences of Sex Development v0.192 AMH Seb Lunke Phenotypes for gene: AMH were changed from to Persistent Mullerian duct syndrome, type I (MIM#261550)
Differences of Sex Development v0.191 AMH Seb Lunke Publications for gene: AMH were set to
Differences of Sex Development v0.190 AMH Seb Lunke Mode of inheritance for gene: AMH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hirschsprung disease v0.11 ECE1 Chirag Patel gene: ECE1 was added
gene: ECE1 was added to Hirschsprung disease. Sources: Literature
Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ECE1 were set to PMID: 9915973; 9449665; 9449664
Phenotypes for gene: ECE1 were set to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
Review for gene: ECE1 was set to RED
Added comment: 1 patient reported in 1999: skip-lesions Hirschsprung disease, cardiac defects, craniofacial abnormalities, other dysmorphic/digit features, and autonomic dysfunction. A heterozygous variant (R742C) was identified, but parents were not available for testing. The activity of the mutant ECE-1 was 4.7% of that of wild-type ECE-1. The variant was thought to lead to the phenotype by resulting in reduced levels of EDN1 and EDN3. Ece1−/− mice exhibit neonatal lethality due to craniofacial and cardiac defects identical to those seen in Edn1−/− mice. In addition, Ece1−/− newborns lack enteric ganglia in the terminal colons, so Ece1 knockout mice seem to present a combination of features characteristic for the Edn1 and Edn3 knockout mice.
Sources: Literature
Differences of Sex Development v0.189 AMH Teresa Zhao reviewed gene: AMH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32172781; Phenotypes: Persistent Mullerian duct syndrome, type I (MIM#261550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6519 PAX4 Zornitza Stark Marked gene: PAX4 as ready
Mendeliome v0.6519 PAX4 Zornitza Stark Gene: pax4 has been classified as Green List (High Evidence).
Mendeliome v0.6519 PAX4 Zornitza Stark Phenotypes for gene: PAX4 were changed from to Maturity-onset diabetes of the young, type IX MIM#612225; Diabetes mellitus, type 2, MIM# 125853
Mendeliome v0.6518 PAX4 Zornitza Stark Publications for gene: PAX4 were set to
Mendeliome v0.6517 PAX4 Zornitza Stark Mode of inheritance for gene: PAX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6516 PAX4 Zornitza Stark reviewed gene: PAX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17426099, 14561778, 25951767, 21263211; Phenotypes: Maturity-onset diabetes of the young, type IX MIM#612225, Diabetes mellitus, type 2, MIM# 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6516 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Mendeliome v0.6516 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
Mendeliome v0.6516 PCBD1 Zornitza Stark Phenotypes for gene: PCBD1 were changed from to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Mendeliome v0.6515 PCBD1 Zornitza Stark Publications for gene: PCBD1 were set to
Mendeliome v0.6514 PCBD1 Zornitza Stark Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6513 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204001; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6513 SPTAN1 Zornitza Stark changed review comment from: At least 4 unrelated families reported.; to: At least 4 unrelated families reported with DEE phenotype.
Genetic Epilepsy v0.1026 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Genetic Epilepsy v0.1026 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1026 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477
Genetic Epilepsy v0.1025 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to
Genetic Epilepsy v0.1024 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1023 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6513 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Mendeliome v0.6513 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Green List (High Evidence).
Mendeliome v0.6513 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477; hereditary motor neuropathy
Mendeliome v0.6512 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to
Mendeliome v0.6511 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6510 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6510 PSAP Zornitza Stark changed review comment from: Well established gene-disease association. Phenotype expansion with early-onset PD reported.; to: Well established gene-disease association for bi-allelic variants. Early-onset PD reported with mono-allelic variants.
Mendeliome v0.6510 PSAP Zornitza Stark Publications for gene: PSAP were set to
Mendeliome v0.6509 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Parkinson disease, AD to Parkinson disease, AD; Combined SAP deficiency 611721; Gaucher disease, atypical, MIM# 610539; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900
Mendeliome v0.6508 PSAP Zornitza Stark changed review comment from: Well established gene-disease association. Phenotype expansion reported with early-onset PD reported.; to: Well established gene-disease association. Phenotype expansion with early-onset PD reported.
Mendeliome v0.6508 PSAP Zornitza Stark reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32201884; Phenotypes: Combined SAP deficiency 611721, Gaucher disease, atypical, MIM# 610539, Krabbe disease, atypical, MIM# 611722, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6508 ACTL9 Zornitza Stark Marked gene: ACTL9 as ready
Mendeliome v0.6508 ACTL9 Zornitza Stark Gene: actl9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3470 SPEN Zornitza Stark Phenotypes for gene: SPEN were changed from Developmental disorders to Intellectual disability; autism; congenital anomalies
Mendeliome v0.6508 SPEN Zornitza Stark Phenotypes for gene: SPEN were changed from Developmental disorders to Intellectual disability; autism; congenital anomalies
Cerebral vascular malformations v0.17 ANGPTL6 Zornitza Stark Marked gene: ANGPTL6 as ready
Cerebral vascular malformations v0.17 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.17 ANGPTL6 Zornitza Stark Classified gene: ANGPTL6 as Green List (high evidence)
Cerebral vascular malformations v0.17 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.16 ANGPTL6 Zornitza Stark gene: ANGPTL6 was added
gene: ANGPTL6 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: ANGPTL6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPTL6 were set to 29304371; 33106390
Phenotypes for gene: ANGPTL6 were set to Cerebral aneurysm
Review for gene: ANGPTL6 was set to GREEN
Added comment: Six unrelated families reported.
Sources: Literature
Mendeliome v0.6507 NLRP3 Zornitza Stark Phenotypes for gene: NLRP3 were changed from to Familial cold inflammatory syndrome 1, MIM#120100; Muckle-Wells syndrome, MIM#191900; CINCA syndrome, MIM#607115; Deafness, autosomal dominant 34, with or without inflammation, MIM#617772; Keratoendothelitis fugax hereditaria, MIM#148200
Mendeliome v0.6506 NLRP3 Zornitza Stark Mode of pathogenicity for gene: NLRP3 was changed from to Other
Mendeliome v0.6505 IRF4 Bryony Thompson Marked gene: IRF4 as ready
Mendeliome v0.6505 IRF4 Bryony Thompson Gene: irf4 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.176 IRF4 Bryony Thompson Marked gene: IRF4 as ready
Combined Immunodeficiency v0.176 IRF4 Bryony Thompson Gene: irf4 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.176 IRF4 Bryony Thompson Classified gene: IRF4 as Amber List (moderate evidence)
Combined Immunodeficiency v0.176 IRF4 Bryony Thompson Gene: irf4 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.175 IRF4 Bryony Thompson gene: IRF4 was added
gene: IRF4 was added to Combined Immunodeficiency. Sources: Other
Mode of inheritance for gene: IRF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF4 were set to 29408330
Phenotypes for gene: IRF4 were set to Combined immunodeficiency
Review for gene: IRF4 was set to AMBER
Added comment: A single case with a homozygous splice variant inherited by uniparental isodisomy, and previously reported supporting null animal models.
Sources: Other
Mendeliome v0.6505 IRF4 Bryony Thompson Phenotypes for gene: IRF4 were changed from Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724 to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724; Combined immunodeficiency
Mendeliome v0.6504 IRF4 Bryony Thompson Publications for gene: IRF4 were set to 29537367
Mendeliome v0.6503 IRF4 Bryony Thompson Mode of inheritance for gene: IRF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6502 IRF4 Bryony Thompson Classified gene: IRF4 as Amber List (moderate evidence)
Mendeliome v0.6502 IRF4 Bryony Thompson Added comment: Comment on list classification: Single case and mouse model for recessive combined immunodeficiency
Mendeliome v0.6502 IRF4 Bryony Thompson Gene: irf4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6501 IRF4 Bryony Thompson reviewed gene: IRF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29408330; Phenotypes: Combined immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.2 MED27 Alison Yeung Classified gene: MED27 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.2 MED27 Alison Yeung Gene: med27 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.1 MED27 Alison Yeung gene: MED27 was added
gene: MED27 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia
Review for gene: MED27 was set to GREEN
gene: MED27 was marked as current diagnostic
Added comment: 16 patients from 11 families reported
Sources: Literature
Dystonia and Chorea v0.170 MED27 Alison Yeung Classified gene: MED27 as Green List (high evidence)
Dystonia and Chorea v0.170 MED27 Alison Yeung Gene: med27 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.169 MED27 Alison Yeung gene: MED27 was added
gene: MED27 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia
Review for gene: MED27 was set to GREEN
gene: MED27 was marked as current diagnostic
Added comment: 16 patients from 11 families reported
Sources: Literature
Monogenic Diabetes v0.9 PCBD1 Alison Yeung Marked gene: PCBD1 as ready
Monogenic Diabetes v0.9 PCBD1 Alison Yeung Gene: pcbd1 has been classified as Green List (High Evidence).
Mendeliome v0.6501 PCBD1 Michelle Torres edited their review of gene: PCBD1: Added comment: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY; Changed phenotypes: MODY, Hyperphenylalaninemia, BH4-deficient, D 264070
Monogenic Diabetes v0.9 PAX4 Seb Lunke Marked gene: PAX4 as ready
Monogenic Diabetes v0.9 PAX4 Seb Lunke Gene: pax4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.9 PAX4 Seb Lunke Phenotypes for gene: PAX4 were changed from Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young to Maturity-onset diabetes of the young, type IX MIM#612225
Monogenic Diabetes v0.8 PAX4 Seb Lunke Publications for gene: PAX4 were set to
Monogenic Diabetes v0.7 PAX4 Seb Lunke Classified gene: PAX4 as Green List (high evidence)
Monogenic Diabetes v0.7 PAX4 Seb Lunke Gene: pax4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.6 PAX4 Seb Lunke reviewed gene: PAX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17426099, 14561778, 25951767, 21263211; Phenotypes: Maturity-onset diabetes of the young, type IX MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6501 SPEN Alison Yeung Classified gene: SPEN as Green List (high evidence)
Mendeliome v0.6501 SPEN Alison Yeung Gene: spen has been classified as Green List (High Evidence).
Monogenic Diabetes v0.6 PCBD1 Michelle Torres reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24848070, 24204001; Phenotypes: MODY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.101 PSAP Seb Lunke Marked gene: PSAP as ready
Early-onset Parkinson disease v0.101 PSAP Seb Lunke Gene: psap has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.101 PSAP Seb Lunke Phenotypes for gene: PSAP were changed from parkinson's disease to Parkinson Disease, AD
Early-onset Parkinson disease v0.100 PSAP Seb Lunke Classified gene: PSAP as Green List (high evidence)
Early-onset Parkinson disease v0.100 PSAP Seb Lunke Added comment: Comment on list classification: Described onset between 33 and 60yrs
Early-onset Parkinson disease v0.100 PSAP Seb Lunke Gene: psap has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.99 PSAP Seb Lunke Classified gene: PSAP as Green List (high evidence)
Early-onset Parkinson disease v0.99 PSAP Seb Lunke Gene: psap has been classified as Green List (High Evidence).
Mendeliome v0.6500 SPTAN1 Alison Yeung Added comment: Comment on mode of inheritance: phenotype expansion
Mendeliome v0.6500 SPTAN1 Alison Yeung Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.211 MAST2 Seb Lunke Marked gene: MAST2 as ready
Bleeding and Platelet Disorders v0.211 MAST2 Seb Lunke Gene: mast2 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.211 MAST2 Seb Lunke Classified gene: MAST2 as Red List (low evidence)
Bleeding and Platelet Disorders v0.211 MAST2 Seb Lunke Gene: mast2 has been classified as Red List (Low Evidence).
Mendeliome v0.6499 PSAP Seb Lunke Marked gene: PSAP as ready
Mendeliome v0.6499 PSAP Seb Lunke Gene: psap has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.98 PSAP Ain Roesley changed review comment from: 6 affecteds from 3 families. Age of onset ranges from 33-60.
Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration
Sources: Literature; to: - 6 affecteds from 3 families. Age of onset ranges from 33-60.
- 2x missense and 1 inframe del
- Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration
Sources: Literature
Mendeliome v0.6499 PSAP Seb Lunke Phenotypes for gene: PSAP were changed from to Parkinson disease, AD
Mendeliome v0.6498 PSAP Seb Lunke Mode of inheritance for gene: PSAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.98 PSAP Ain Roesley gene: PSAP was added
gene: PSAP was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: PSAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSAP were set to 32201884
Phenotypes for gene: PSAP were set to parkinson's disease
Penetrance for gene: PSAP were set to unknown
Review for gene: PSAP was set to GREEN
Added comment: 6 affecteds from 3 families. Age of onset ranges from 33-60.
Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration
Sources: Literature
Mendeliome v0.6497 ACTL9 Alison Yeung Classified gene: ACTL9 as Green List (high evidence)
Mendeliome v0.6497 ACTL9 Alison Yeung Gene: actl9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3469 SPEN Alison Yeung Classified gene: SPEN as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3469 SPEN Alison Yeung Gene: spen has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3469 SPEN Alison Yeung Classified gene: SPEN as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3469 SPEN Alison Yeung Gene: spen has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.210 MAST2 Elena Savva gene: MAST2 was added
gene: MAST2 was added to Bleeding and Platelet Disorders. Sources: Literature
Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST2 were set to PMID: 33465109
Phenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis
Review for gene: MAST2 was set to RED
Added comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.

RNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets
Sources: Literature
Mendeliome v0.6496 MAST2 Seb Lunke Marked gene: MAST2 as ready
Mendeliome v0.6496 MAST2 Seb Lunke Gene: mast2 has been classified as Red List (Low Evidence).
Mendeliome v0.6496 MAST2 Seb Lunke Classified gene: MAST2 as Red List (low evidence)
Mendeliome v0.6496 MAST2 Seb Lunke Gene: mast2 has been classified as Red List (Low Evidence).
Mendeliome v0.6495 SPEN Chern Lim reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33596411; Phenotypes: Developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.6495 ANGPTL6 Alison Yeung Classified gene: ANGPTL6 as Green List (high evidence)
Mendeliome v0.6495 ANGPTL6 Alison Yeung Gene: angptl6 has been classified as Green List (High Evidence).
Mendeliome v0.6494 SPTAN1 Melanie Marty changed review comment from: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients; to: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients. Functional studies show NMD and reduced protein levels in patient cells.
Mendeliome v0.6494 PCBD1 Michelle Torres changed review comment from: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY; to: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY
Mendeliome v0.6494 EPAS1 Seb Lunke Marked gene: EPAS1 as ready
Mendeliome v0.6494 EPAS1 Seb Lunke Gene: epas1 has been classified as Green List (High Evidence).
Mendeliome v0.6494 EPAS1 Seb Lunke Phenotypes for gene: EPAS1 were changed from to Familial erythrocytosis (MIM#4611783), AD
Mendeliome v0.6493 EPAS1 Seb Lunke Publications for gene: EPAS1 were set to
Mendeliome v0.6492 NLRP3 Alison Yeung Classified gene: NLRP3 as Green List (high evidence)
Mendeliome v0.6492 NLRP3 Alison Yeung Gene: nlrp3 has been classified as Green List (High Evidence).
Mendeliome v0.6491 NLRP3 Alison Yeung Publications for gene: NLRP3 were set to
Mendeliome v0.6490 PCBD1 Michelle Torres changed review comment from: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY; to: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY
Mendeliome v0.6490 EPAS1 Seb Lunke Added comment: Comment on mode of pathogenicity: Gain-of-function
Mendeliome v0.6490 EPAS1 Seb Lunke Mode of pathogenicity for gene: EPAS1 was changed from to Other
Mendeliome v0.6489 NLRP3 Alison Yeung Mode of inheritance for gene: NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6488 EPAS1 Seb Lunke Mode of inheritance for gene: EPAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6487 NLRP3 Alison Yeung Marked gene: NLRP3 as ready
Mendeliome v0.6487 NLRP3 Alison Yeung Gene: nlrp3 has been classified as Green List (High Evidence).
Mendeliome v0.6487 PCBD1 Michelle Torres reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24848070, 24204001; Phenotypes: MODY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3468 MED27 Alison Yeung Marked gene: MED27 as ready
Intellectual disability syndromic and non-syndromic v0.3468 MED27 Alison Yeung Gene: med27 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3468 MED27 Alison Yeung Classified gene: MED27 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3468 MED27 Alison Yeung Gene: med27 has been classified as Green List (High Evidence).
Mendeliome v0.6487 SPTAN1 Melanie Marty reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33578420, 31332438; Phenotypes: hereditary motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3467 MED27 Alison Yeung gene: MED27 was added
gene: MED27 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia
Review for gene: MED27 was set to GREEN
gene: MED27 was marked as current diagnostic
Added comment: 16 patients from 11 families reported
Sources: Literature
Mendeliome v0.6487 MED27 Alison Yeung Marked gene: MED27 as ready
Mendeliome v0.6487 MED27 Alison Yeung Gene: med27 has been classified as Green List (High Evidence).
Mendeliome v0.6487 MED27 Alison Yeung Classified gene: MED27 as Green List (high evidence)
Mendeliome v0.6487 MED27 Alison Yeung Gene: med27 has been classified as Green List (High Evidence).
Mendeliome v0.6486 PSAP Ain Roesley reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32201884; Phenotypes: parkinson's disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6486 MED27 Alison Yeung Deleted their comment
Mendeliome v0.6486 MED27 Alison Yeung gene: MED27 was added
gene: MED27 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia
Review for gene: MED27 was set to GREEN
gene: MED27 was marked as current diagnostic
Added comment: 16 patients from 11 families with balletic variants
Sources: Literature
Mendeliome v0.6485 ACTL9 Elena Savva gene: ACTL9 was added
gene: ACTL9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACTL9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL9 were set to PMID: 33626338
Phenotypes for gene: ACTL9 were set to Fertilization failure; male infertility
Review for gene: ACTL9 was set to GREEN
Added comment: Three families with homozygous pathogenic variants (two missense, one PTC). Single affected in each family. Functional analysis from patients shows all sperm had morphological defects, protein had reduced binding to ACTL7A
All variants very rare in gnomAD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3466 SPEN Chern Lim reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33596411; Phenotypes: Developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.6485 MAST2 Elena Savva gene: MAST2 was added
gene: MAST2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST2 were set to PMID: 33465109
Phenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis
Review for gene: MAST2 was set to RED
Added comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.

RNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets
Sources: Literature
Mendeliome v0.6485 ANGPTL6 Seb Lunke reviewed gene: ANGPTL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33106390; Phenotypes: Cerebral aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6485 EPAS1 Teresa Zhao reviewed gene: EPAS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27292716, 19208626; Phenotypes: Familial erythrocytosis (MIM#4611783), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Diabetes Insipidus v1.0 Bryony Thompson promoted panel to version 1.0
Mendeliome v0.6485 NLRP3 Elena Savva reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25038238; Phenotypes: Familial cold inflammatory syndrome 1, MIM#120100, Muckle-Wells syndrome, MIM#191900, CINCA syndrome, MIM#607115, Deafness, autosomal dominant 34, with or without inflammation, MIM#617772, Keratoendothelitis fugax hereditaria, MIM#148200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6485 AGPS Zornitza Stark Marked gene: AGPS as ready
Mendeliome v0.6485 AGPS Zornitza Stark Gene: agps has been classified as Green List (High Evidence).
Mendeliome v0.6485 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121
Mendeliome v0.6484 AGPS Zornitza Stark Publications for gene: AGPS were set to
Mendeliome v0.6483 AGPS Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6482 AGPS Zornitza Stark reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9553082, 8611652, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6482 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Mendeliome v0.6482 BANF1 Zornitza Stark Gene: banf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6482 BANF1 Zornitza Stark Phenotypes for gene: BANF1 were changed from to Nestor-Guillermo progeria syndrome, MIM# 614008
Mendeliome v0.6481 BANF1 Zornitza Stark Publications for gene: BANF1 were set to
Mendeliome v0.6480 BANF1 Zornitza Stark Mode of inheritance for gene: BANF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6479 BANF1 Zornitza Stark Classified gene: BANF1 as Amber List (moderate evidence)
Mendeliome v0.6479 BANF1 Zornitza Stark Gene: banf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6478 BANF1 Zornitza Stark reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.25 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Lipodystrophy_Lipoatrophy v0.25 BANF1 Zornitza Stark Gene: banf1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.25 BANF1 Zornitza Stark Phenotypes for gene: BANF1 were changed from to Nestor-Guillermo progeria syndrome, MIM# 614008
Lipodystrophy_Lipoatrophy v0.24 BANF1 Zornitza Stark Publications for gene: BANF1 were set to
Lipodystrophy_Lipoatrophy v0.23 BANF1 Zornitza Stark Mode of inheritance for gene: BANF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.22 BANF1 Zornitza Stark Classified gene: BANF1 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.22 BANF1 Zornitza Stark Gene: banf1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.21 BANF1 Zornitza Stark reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.21 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Lipodystrophy_Lipoatrophy v0.21 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.21 AKT2 Zornitza Stark Phenotypes for gene: AKT2 were changed from to Hypoinsulinemic hypoglycemia with hemihypertrophy 240900
Lipodystrophy_Lipoatrophy v0.20 AKT2 Zornitza Stark Publications for gene: AKT2 were set to
Lipodystrophy_Lipoatrophy v0.19 AKT2 Zornitza Stark Mode of inheritance for gene: AKT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.18 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27408773, 21979934]; Phenotypes: Hypoinsulinemic hypoglycemia with hemihypertrophy 240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glycogen Storage Diseases v0.54 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Glycogen Storage Diseases v0.54 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.54 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM# 300257
Glycogen Storage Diseases v0.53 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 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)
Glycogen Storage Diseases v0.52 LAMP2 Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Glycogen Storage Diseases v0.52 GYG1 Zornitza Stark Marked gene: GYG1 as ready
Glycogen Storage Diseases v0.52 GYG1 Zornitza Stark Gene: gyg1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.52 GYG1 Zornitza Stark Phenotypes for gene: GYG1 were changed from to Glycogen storage disease XV, MIM# 613507; Polyglucosan body myopathy 2, MIM# 616199
Glycogen Storage Diseases v0.51 GYG1 Zornitza Stark Publications for gene: GYG1 were set to
Glycogen Storage Diseases v0.50 GYG1 Zornitza Stark Mode of inheritance for gene: GYG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.49 GYG1 Zornitza Stark edited their review of gene: GYG1: Changed rating: GREEN
Glycogen Storage Diseases v0.49 GYG1 Zornitza Stark reviewed gene: GYG1: Rating: ; Mode of pathogenicity: None; Publications: 31791869, 20357282, 27718144; Phenotypes: Glycogen storage disease XV, MIM# 613507, Polyglucosan body myopathy 2, MIM# 616199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6478 FOXP2 Zornitza Stark Marked gene: FOXP2 as ready
Mendeliome v0.6478 FOXP2 Zornitza Stark Gene: foxp2 has been classified as Green List (High Evidence).
Mendeliome v0.6478 FOXP2 Zornitza Stark Phenotypes for gene: FOXP2 were changed from to Speech-language disorder-1, MIM# 602081
Mendeliome v0.6477 FOXP2 Zornitza Stark Publications for gene: FOXP2 were set to
Mendeliome v0.6476 FOXP2 Zornitza Stark Mode of inheritance for gene: FOXP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6475 FOXP2 Zornitza Stark reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877281, 15983371, 27336128; Phenotypes: Speech-language disorder-1, MIM# 602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6475 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Mendeliome v0.6475 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Mendeliome v0.6475 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from to Polydactyly, postaxial, types A1 and B, MIM#174200; Greig cephalopolysyndactyly syndrome MIM#175700; Polydactyly, preaxial, type IV MIM#174700; Pallister-Hall syndrome MIM#146510
Mendeliome v0.6474 GLI3 Zornitza Stark Publications for gene: GLI3 were set to
Mendeliome v0.6473 GLI3 Zornitza Stark Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6472 KIF22 Zornitza Stark Marked gene: KIF22 as ready
Mendeliome v0.6472 KIF22 Zornitza Stark Gene: kif22 has been classified as Green List (High Evidence).
Mendeliome v0.6472 KIF22 Zornitza Stark Publications for gene: KIF22 were set to 22152677; 22152678
Mendeliome v0.6471 KIF22 Zornitza Stark reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: 25256152; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6471 KIF22 Zornitza Stark Phenotypes for gene: KIF22 were changed from to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546
Mendeliome v0.6470 KIF22 Zornitza Stark Publications for gene: KIF22 were set to
Mendeliome v0.6469 KIF22 Zornitza Stark Mode of inheritance for gene: KIF22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6468 ANKZF1 Bryony Thompson Marked gene: ANKZF1 as ready
Mendeliome v0.6468 ANKZF1 Bryony Thompson Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6468 ANKZF1 Bryony Thompson Classified gene: ANKZF1 as Amber List (moderate evidence)
Mendeliome v0.6468 ANKZF1 Bryony Thompson Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6467 ANKZF1 Bryony Thompson gene: ANKZF1 was added
gene: ANKZF1 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: ANKZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKZF1 were set to 28302725
Phenotypes for gene: ANKZF1 were set to Infantile-onset inflammatory bowel disease
Review for gene: ANKZF1 was set to AMBER
Added comment: Two unrelated cases (1 homozygous and 1 compound heterozygous), and supporting in vitro and yeast assays indicating that loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity.
Sources: Other
Inflammatory bowel disease v0.42 ANKZF1 Bryony Thompson Marked gene: ANKZF1 as ready
Inflammatory bowel disease v0.42 ANKZF1 Bryony Thompson Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.42 ANKZF1 Bryony Thompson Classified gene: ANKZF1 as Amber List (moderate evidence)
Inflammatory bowel disease v0.42 ANKZF1 Bryony Thompson Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.41 ANKZF1 Bryony Thompson gene: ANKZF1 was added
gene: ANKZF1 was added to Inflammatory bowel disease. Sources: Other
Mode of inheritance for gene: ANKZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKZF1 were set to 28302725
Phenotypes for gene: ANKZF1 were set to Infantile-onset inflammatory bowel disease
Review for gene: ANKZF1 was set to AMBER
Added comment: Two unrelated cases (1 homozygous and 1 compound heterozygous), and supporting in vitro and yeast assays indicating that loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity.
Sources: Other
Mendeliome v0.6466 ANGPT1 Bryony Thompson Classified gene: ANGPT1 as Amber List (moderate evidence)
Mendeliome v0.6466 ANGPT1 Bryony Thompson Gene: angpt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6465 ANGPT1 Bryony Thompson gene: ANGPT1 was added
gene: ANGPT1 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPT1 were set to 28601681; 24852101; 30689269; 10617467; 8980224
Phenotypes for gene: ANGPT1 were set to Hereditary angioedema
Review for gene: ANGPT1 was set to AMBER
Added comment: A missense variant (A119S) identified in 4 affected individuals in a single family. Supportive data in patient cells, functional assays of the variant, and animal models (both overexpression and null) for the gene.
Sources: Other
Hereditary angioedema v0.5 ANGPT1 Bryony Thompson Classified gene: ANGPT1 as Amber List (moderate evidence)
Hereditary angioedema v0.5 ANGPT1 Bryony Thompson Gene: angpt1 has been classified as Amber List (Moderate Evidence).
Hereditary angioedema v0.4 ANGPT1 Bryony Thompson gene: ANGPT1 was added
gene: ANGPT1 was added to Hereditary angioedema. Sources: Other
Mode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPT1 were set to 28601681; 24852101; 30689269; 10617467; 8980224
Phenotypes for gene: ANGPT1 were set to Hereditary angioedema
Review for gene: ANGPT1 was set to AMBER
Added comment: A missense variant (A119S) identified in 4 affected individuals in a single family. Supportive data in patient cells, functional assays of the variant, and animal models (both overexpression and null) for the gene.
Sources: Other
Intellectual disability syndromic and non-syndromic v0.3466 FOXP2 Zornitza Stark Marked gene: FOXP2 as ready
Intellectual disability syndromic and non-syndromic v0.3466 FOXP2 Zornitza Stark Gene: foxp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3466 FOXP2 Zornitza Stark Phenotypes for gene: FOXP2 were changed from to Speech-language disorder-1, MIM# 602081
Intellectual disability syndromic and non-syndromic v0.3465 FOXP2 Zornitza Stark Publications for gene: FOXP2 were set to
Intellectual disability syndromic and non-syndromic v0.3464 FOXP2 Zornitza Stark Mode of inheritance for gene: FOXP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3463 FOXP2 Zornitza Stark reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877281, 15983371, 27336128; Phenotypes: Speech-language disorder-1, MIM# 602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.14 FAAHP1 Bryony Thompson Marked gene: FAAHP1 as ready
Pain syndromes v0.14 FAAHP1 Bryony Thompson Gene: faahp1 has been classified as Red List (Low Evidence).
Pain syndromes v0.14 FAAHP1 Bryony Thompson Mode of inheritance for gene: FAAHP1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Pain syndromes v0.13 FAAHP1 Bryony Thompson Classified gene: FAAHP1 as Red List (low evidence)
Pain syndromes v0.13 FAAHP1 Bryony Thompson Gene: faahp1 has been classified as Red List (Low Evidence).
Pain syndromes v0.12 FAAHP1 Bryony Thompson reviewed gene: FAAHP1: Rating: RED; Mode of pathogenicity: None; Publications: 30929760; Phenotypes: pain insensitivity; Mode of inheritance: Unknown
Pain syndromes v0.12 CLTCL1 Bryony Thompson Marked gene: CLTCL1 as ready
Pain syndromes v0.12 CLTCL1 Bryony Thompson Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.12 CLTCL1 Bryony Thompson Publications for gene: CLTCL1 were set to 26068709
Pain syndromes v0.11 CLTCL1 Bryony Thompson Classified gene: CLTCL1 as Amber List (moderate evidence)
Pain syndromes v0.11 CLTCL1 Bryony Thompson Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.10 CLTCL1 Bryony Thompson reviewed gene: CLTCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26068709, 29402896; Phenotypes: pain insensitivity, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6464 CLTCL1 Bryony Thompson Marked gene: CLTCL1 as ready
Mendeliome v0.6464 CLTCL1 Bryony Thompson Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6464 CLTCL1 Bryony Thompson Classified gene: CLTCL1 as Amber List (moderate evidence)
Mendeliome v0.6464 CLTCL1 Bryony Thompson Added comment: Comment on list classification: A single family, but also some compelling functional data for an association with insensitivity to pain.
Mendeliome v0.6464 CLTCL1 Bryony Thompson Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6463 CLTCL1 Bryony Thompson changed review comment from: PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.

PMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system

Other reports of associations with limited evidence:
PMID: 22511880 - Identified as a candidate gene in an autism study, but the homozygous variant (reported as R125C, but actually R1165C) has 40 homozygotes in gnomAD v2.1. And many of the other compound heterozygous candidate variants in the study are too common in gnomAD v2.1, with many homozygotes present. The missense reported in the pain insensitivity family Glu330Lys was reported with another rare missense variant (Glu1310Lys) in one of the autism cases, but no other phenotype information was provided.

PMID: 31354784 - a single case with infantile spasm reported with compound het missense (Met1316Val & Arg1165Cys), but both are very common in gnomAD v2.1 with 33,000 and 40 homozygotes, respectively.
Sources: Literature; to: PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.

PMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system.

Other reports of associations with limited evidence:
PMID: 22511880 - Identified as a candidate gene in an autism study, but the homozygous variant (reported as R125C, but actually R1165C) has 40 homozygotes in gnomAD v2.1. And many of the other compound heterozygous candidate variants in the study are too common in gnomAD v2.1, with many homozygotes present. The missense reported in the pain insensitivity family Glu330Lys was reported with another rare missense variant (Glu1310Lys) in one of the autism cases, but no other phenotype information was provided.

PMID: 31354784 - a single case with infantile spasm reported with compound het missense (Met1316Val & Arg1165Cys), but both are very common in gnomAD v2.1 with 33,000 and 40 homozygotes, respectively.
Sources: Literature
Mendeliome v0.6463 CLTCL1 Bryony Thompson gene: CLTCL1 was added
gene: CLTCL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLTCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLTCL1 were set to 26068709; 29402896; 22511880; 31354784
Phenotypes for gene: CLTCL1 were set to Congenital insensitivity to pain
Review for gene: CLTCL1 was set to AMBER
Added comment: PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.

PMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system

Other reports of associations with limited evidence:
PMID: 22511880 - Identified as a candidate gene in an autism study, but the homozygous variant (reported as R125C, but actually R1165C) has 40 homozygotes in gnomAD v2.1. And many of the other compound heterozygous candidate variants in the study are too common in gnomAD v2.1, with many homozygotes present. The missense reported in the pain insensitivity family Glu330Lys was reported with another rare missense variant (Glu1310Lys) in one of the autism cases, but no other phenotype information was provided.

PMID: 31354784 - a single case with infantile spasm reported with compound het missense (Met1316Val & Arg1165Cys), but both are very common in gnomAD v2.1 with 33,000 and 40 homozygotes, respectively.
Sources: Literature
Mendeliome v0.6462 KIF22 Elena Savva reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22152677, 22152678; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.6462 GLI3 Elena Savva reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32591344, 18000979, 24736735; Phenotypes: Polydactyly, postaxial, types A1 and B, MIM#174200, Greig cephalopolysyndactyly syndrome MIM#175700, Polydactyly, preaxial, type IV MIM#174700, Pallister-Hall syndrome MIM#146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Pain syndromes v0.10 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.188 C14orf39 Zornitza Stark Phenotypes for gene: C14orf39 were changed from Premature ovarian insufficiency to Premature ovarian failure 18, MIM# 619203
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark reviewed gene: C14orf39: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Premature ovarian failure 18, MIM# 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6462 C14orf39 Zornitza Stark Phenotypes for gene: C14orf39 were changed from Azoospermia; Premature ovarian insufficiency to Spermatogenic failure 52, MIM# 619202; Premature ovarian failure 18 619203
Mendeliome v0.6461 C14orf39 Zornitza Stark reviewed gene: C14orf39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 52, MIM# 619202, Premature ovarian failure 18 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.10 SLC7A6OS Zornitza Stark Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191
Progressive Myoclonic Epilepsy v0.9 SLC7A6OS Zornitza Stark edited their review of gene: SLC7A6OS: Changed phenotypes: Epilepsy, progressive myoclonic, 12, MIM# 619191
Mendeliome v0.6461 SLC7A6OS Zornitza Stark Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191
Mendeliome v0.6460 SLC7A6OS Zornitza Stark edited their review of gene: SLC7A6OS: Changed phenotypes: Epilepsy, progressive myoclonic, 12, MIM# 619191
Genetic Epilepsy v0.1023 SLC7A6OS Zornitza Stark Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191; Progressive myoclonus epilepsy
Genetic Epilepsy v0.1022 SLC7A6OS Zornitza Stark edited their review of gene: SLC7A6OS: Changed phenotypes: Epilepsy, progressive myoclonic, 12, MIM# 619191, Progressive myoclonus epilepsy
Glycogen Storage Diseases v0.49 PHKA2 Daniel Flanagan reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10330341; Phenotypes: Glycogen storage disease, type IXa1, Glycogen storage disease, type IXa2; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glycogen Storage Diseases v0.49 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Glycogen Storage Diseases v0.49 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.49 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500
Glycogen Storage Diseases v0.48 GBE1 Zornitza Stark Publications for gene: GBE1 were set to
Glycogen Storage Diseases v0.47 GBE1 Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.46 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8613547; Phenotypes: Glycogen storage disease IV, MIM# 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6460 G6PC Zornitza Stark Marked gene: G6PC as ready
Mendeliome v0.6460 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Mendeliome v0.6460 G6PC Zornitza Stark Phenotypes for gene: G6PC were changed from to Glycogen storage disease Ia, MIM# 232200
Mendeliome v0.6459 G6PC Zornitza Stark Publications for gene: G6PC were set to
Mendeliome v0.6458 G6PC Zornitza Stark Mode of inheritance for gene: G6PC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6457 G6PC Zornitza Stark reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 8733042; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.46 G6PC Zornitza Stark Marked gene: G6PC as ready
Glycogen Storage Diseases v0.46 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.46 G6PC Zornitza Stark Phenotypes for gene: G6PC were changed from to Glycogen storage disease Ia, MIM# 232200
Glycogen Storage Diseases v0.45 G6PC Zornitza Stark Publications for gene: G6PC were set to
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan reviewed gene: ALPI: Rating: AMBER; Mode of pathogenicity: None; Publications: 32084423; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.44 G6PC Zornitza Stark Mode of inheritance for gene: G6PC was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.44 G6PC Zornitza Stark Mode of inheritance for gene: G6PC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.43 G6PC Zornitza Stark reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 8733042; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.43 FBP1 Zornitza Stark Marked gene: FBP1 as ready
Glycogen Storage Diseases v0.43 FBP1 Zornitza Stark Gene: fbp1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.43 FBP1 Zornitza Stark Phenotypes for gene: FBP1 were changed from to Fructose-1,6-bisphosphatase deficiency, MIM# 229700
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan Deleted their review
Glycogen Storage Diseases v0.42 FBP1 Zornitza Stark Publications for gene: FBP1 were set to
Glycogen Storage Diseases v0.41 FBP1 Zornitza Stark Mode of inheritance for gene: FBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.40 FBP1 Zornitza Stark reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9382095; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.40 EPM2A Zornitza Stark Marked gene: EPM2A as ready
Glycogen Storage Diseases v0.40 EPM2A Zornitza Stark Gene: epm2a has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.40 EPM2A Zornitza Stark Phenotypes for gene: EPM2A were changed from to Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan changed review comment from: 2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication in 2020 regarding ALPI but no new individuals described.; to: 2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication (PMID: 32084423) in 2020 but no new individuals identified (patient described has previously been reported).
Glycogen Storage Diseases v0.39 EPM2A Zornitza Stark Publications for gene: EPM2A were set to
Glycogen Storage Diseases v0.38 EPM2A Zornitza Stark Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.37 EPM2A Zornitza Stark reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771710; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.40 ALPI Lavvina Thiyagarajan changed review comment from: 3 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional (3rd) individual described in recent (2020) publication with bi-allelic variants in ALPI.; to: 2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication in 2020 regarding ALPI but no new individuals described.
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Marked gene: ALPI as ready
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Added comment: Comment when marking as ready: Family reported in PMID 32084423 is actually already previously reported.
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Inflammatory bowel disease v0.40 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6457 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Mendeliome v0.6457 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6456 ALPI Zornitza Stark changed review comment from: Third family reported 2020, PMID 32084423.; to: Family reported 2020, PMID 32084423 is actually already previously reported.
Mendeliome v0.6456 ALPI Zornitza Stark edited their review of gene: ALPI: Changed rating: AMBER
Mendeliome v0.6456 NMNAT2 Bryony Thompson Marked gene: NMNAT2 as ready
Mendeliome v0.6456 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6456 NMNAT2 Bryony Thompson Marked gene: NMNAT2 as ready
Mendeliome v0.6456 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6456 NMNAT2 Bryony Thompson Classified gene: NMNAT2 as Amber List (moderate evidence)
Mendeliome v0.6456 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6455 NMNAT2 Bryony Thompson gene: NMNAT2 was added
gene: NMNAT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363; 25271157; 20126265
Phenotypes for gene: NMNAT2 were set to polyneuropathy; erythromelalgia
Review for gene: NMNAT2 was set to AMBER
Added comment: A single family with siblings with a homozygous variant that confers a partial loss of function. Strong supporting functional evidence that the gene plays a key role in axonal survival.
Sources: Literature
Pain syndromes v0.9 NMNAT2 Bryony Thompson Publications for gene: NMNAT2 were set to 31132363
Pain syndromes v0.8 NMNAT2 Bryony Thompson Marked gene: NMNAT2 as ready
Pain syndromes v0.8 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.8 NMNAT2 Bryony Thompson Classified gene: NMNAT2 as Amber List (moderate evidence)
Pain syndromes v0.8 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.7 NMNAT2 Bryony Thompson reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31132363, 25271157, 20126265; Phenotypes: Polyneuropathy with erythromelalgia; Mode of inheritance: None
Mendeliome v0.6454 CCT5 Bryony Thompson Phenotypes for gene: CCT5 were changed from to Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840
Mendeliome v0.6453 CCT5 Bryony Thompson Publications for gene: CCT5 were set to
Mendeliome v0.6452 CCT5 Bryony Thompson Mode of inheritance for gene: CCT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.7 CCT5 Bryony Thompson Marked gene: CCT5 as ready
Pain syndromes v0.7 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.7 CCT5 Bryony Thompson Classified gene: CCT5 as Amber List (moderate evidence)
Pain syndromes v0.7 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.6 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891, 12874111; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.6 NAGLU Bryony Thompson Marked gene: NAGLU as ready
Pain syndromes v0.6 NAGLU Bryony Thompson Gene: naglu has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.6 NAGLU Bryony Thompson reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: None; Publications: 25818867; Phenotypes: ?Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.6 MPV17 Bryony Thompson Marked gene: MPV17 as ready
Pain syndromes v0.6 MPV17 Bryony Thompson Gene: mpv17 has been classified as Red List (Low Evidence).
Pain syndromes v0.6 MPV17 Bryony Thompson Classified gene: MPV17 as Red List (low evidence)
Pain syndromes v0.6 MPV17 Bryony Thompson Gene: mpv17 has been classified as Red List (Low Evidence).
Pain syndromes v0.5 MPV17 Bryony Thompson reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: 22508010, 29282788; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.5 TRPA1 Bryony Thompson Marked gene: TRPA1 as ready
Pain syndromes v0.5 TRPA1 Bryony Thompson Gene: trpa1 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.5 TRPA1 Bryony Thompson Classified gene: TRPA1 as Amber List (moderate evidence)
Pain syndromes v0.5 TRPA1 Bryony Thompson Gene: trpa1 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.4 TRPA1 Bryony Thompson reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28436534, 20547126; Phenotypes: ?Episodic pain syndrome, familial, 1 MIM#615040, Cramp-fasciculation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6451 USF1 Bryony Thompson Marked gene: USF1 as ready
Mendeliome v0.6451 USF1 Bryony Thompson Gene: usf1 has been classified as Red List (Low Evidence).
Mendeliome v0.6451 USF1 Bryony Thompson Classified gene: USF1 as Red List (low evidence)
Mendeliome v0.6451 USF1 Bryony Thompson Gene: usf1 has been classified as Red List (Low Evidence).
Mendeliome v0.6450 USF1 Bryony Thompson reviewed gene: USF1: Rating: RED; Mode of pathogenicity: None; Publications: 14991056, 16076849, 31725952; Phenotypes: Hyperlipidemia, familial combined, susceptibility to MIM#602491; Mode of inheritance: Unknown
Hereditary Neuropathy v0.107 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Hereditary Neuropathy v0.107 PDXK Bryony Thompson Added comment: Comment on list classification: Additional family identified
Hereditary Neuropathy v0.107 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.106 PDXK Bryony Thompson Publications for gene: PDXK were set to 31187503
Optic Atrophy v0.131 PDXK Bryony Thompson Publications for gene: PDXK were set to 31187503
Optic Atrophy v0.130 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Optic Atrophy v0.130 PDXK Bryony Thompson Added comment: Comment on list classification: Additional family identified
Optic Atrophy v0.130 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Mendeliome v0.6450 PDXK Bryony Thompson Publications for gene: PDXK were set to 31187503
Mendeliome v0.6449 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Mendeliome v0.6449 PDXK Bryony Thompson Added comment: Comment on list classification: Additional family published in 2020
Mendeliome v0.6449 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Mendeliome v0.6447 LIPI Bryony Thompson Marked gene: LIPI as ready
Mendeliome v0.6447 LIPI Bryony Thompson Gene: lipi has been classified as Red List (Low Evidence).
Mendeliome v0.6447 LIPI Bryony Thompson Classified gene: LIPI as Red List (low evidence)
Mendeliome v0.6447 LIPI Bryony Thompson Gene: lipi has been classified as Red List (Low Evidence).
Mendeliome v0.6446 LIPI Bryony Thompson reviewed gene: LIPI: Rating: RED; Mode of pathogenicity: None; Publications: 12719377; Phenotypes: Hypertriglycidaemia, familial; Mode of inheritance: Unknown
Mendeliome v0.6446 GALNT12 Bryony Thompson Marked gene: GALNT12 as ready
Mendeliome v0.6446 GALNT12 Bryony Thompson Gene: galnt12 has been classified as Red List (Low Evidence).
Mendeliome v0.6446 GALNT12 Bryony Thompson Classified gene: GALNT12 as Red List (low evidence)
Mendeliome v0.6446 GALNT12 Bryony Thompson Gene: galnt12 has been classified as Red List (Low Evidence).
Mendeliome v0.6445 GALNT12 Bryony Thompson reviewed gene: GALNT12: Rating: RED; Mode of pathogenicity: None; Publications: 19617566, 30523343, 29749045; Phenotypes: Colorectal cancer, susceptibility to, 1 MIM#608812; Mode of inheritance: Unknown
Mendeliome v0.6445 C1GALT1C1 Bryony Thompson Tag somatic tag was added to gene: C1GALT1C1.
Mendeliome v0.6445 ABCG2 Bryony Thompson Marked gene: ABCG2 as ready
Mendeliome v0.6445 ABCG2 Bryony Thompson Gene: abcg2 has been classified as Red List (Low Evidence).
Mendeliome v0.6445 ABCG2 Bryony Thompson Classified gene: ABCG2 as Red List (low evidence)
Mendeliome v0.6445 ABCG2 Bryony Thompson Gene: abcg2 has been classified as Red List (Low Evidence).
Mendeliome v0.6444 ABCG2 Bryony Thompson reviewed gene: ABCG2: Rating: RED; Mode of pathogenicity: None; Publications: 22246505, 20368174, 26810134; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6444 SAT1 Bryony Thompson Marked gene: SAT1 as ready
Mendeliome v0.6444 SAT1 Bryony Thompson Gene: sat1 has been classified as Red List (Low Evidence).
Mendeliome v0.6444 SAT1 Bryony Thompson Classified gene: SAT1 as Red List (low evidence)
Mendeliome v0.6444 SAT1 Bryony Thompson Gene: sat1 has been classified as Red List (Low Evidence).
Mendeliome v0.6443 SAT1 Bryony Thompson reviewed gene: SAT1: Rating: RED; Mode of pathogenicity: None; Publications: 12215835, 20672378, 9228047; Phenotypes: Keratosis follicularis spinulosa decalvans; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinitis pigmentosa v0.82 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Retinitis pigmentosa v0.82 DHDDS Zornitza Stark Added comment: Comment when marking as ready: Gene is associated with multiple phenotypes, RP only reported in association with this founder Jewish Ashkenazi variant.
Retinitis pigmentosa v0.82 DHDDS Zornitza Stark Gene: dhdds has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.82 DHDDS Zornitza Stark Classified gene: DHDDS as Amber List (moderate evidence)
Retinitis pigmentosa v0.82 DHDDS Zornitza Stark Gene: dhdds has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6443 ALPI Zornitza Stark Publications for gene: ALPI were set to 29567797
Mendeliome v0.6442 ALPI Zornitza Stark Classified gene: ALPI as Green List (high evidence)
Mendeliome v0.6442 ALPI Zornitza Stark Gene: alpi has been classified as Green List (High Evidence).
Mendeliome v0.6441 ALPI Zornitza Stark edited their review of gene: ALPI: Added comment: Third family reported 2020, PMID 32084423.; Changed rating: GREEN; Changed publications: 29567797, 32084423
Inflammatory bowel disease v0.39 ALPI Zornitza Stark Publications for gene: ALPI were set to 29567797
Inflammatory bowel disease v0.38 ALPI Zornitza Stark Classified gene: ALPI as Green List (high evidence)
Inflammatory bowel disease v0.38 ALPI Zornitza Stark Gene: alpi has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.37 ALPI Lavvina Thiyagarajan changed review comment from: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper) - in addition to 2 unrelated individuals from previous review.
; to: 3 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional (3rd) individual described in recent (2020) publication with bi-allelic variants in ALPI.
Inflammatory bowel disease v0.37 ALPI Lavvina Thiyagarajan changed review comment from: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper); to: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper) - in addition to 2 unrelated individuals from previous review.
Inflammatory bowel disease v0.37 ALPI Lavvina Thiyagarajan reviewed gene: ALPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32084423; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6441 MIR5004 Bryony Thompson Marked gene: MIR5004 as ready
Mendeliome v0.6441 MIR5004 Bryony Thompson Gene: mir5004 has been classified as Red List (Low Evidence).
Mendeliome v0.6441 MIR5004 Bryony Thompson Classified gene: MIR5004 as Red List (low evidence)
Mendeliome v0.6441 MIR5004 Bryony Thompson Gene: mir5004 has been classified as Red List (Low Evidence).
Stroke v0.56 Zornitza Stark Panel name changed from Stroke to Stroke_Adult
Retinitis pigmentosa v0.81 DHDDS Elena Savva reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32272552, 33077723; Phenotypes: Retinitis pigmentosa 59 MIM#613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6440 MIR5004 Bryony Thompson reviewed gene: MIR5004: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.3463 TOGARAM1 Zornitza Stark Marked gene: TOGARAM1 as ready
Intellectual disability syndromic and non-syndromic v0.3463 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3463 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3463 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3462 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439; 32453716
Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185
Review for gene: TOGARAM1 was set to GREEN
Added comment: Six families reported with features of ciliopathy, including molar tooth sign consistent with Joubert syndrome. In some of the families the disorder presented prenatally; however, severe ID in survivors including absent speech.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.104 TOGARAM1 Zornitza Stark Marked gene: TOGARAM1 as ready
Joubert syndrome and other neurological ciliopathies v0.104 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.104 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.104 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.103 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439; 32453716
Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185
Review for gene: TOGARAM1 was set to GREEN
Added comment: Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.3 TOGARAM1 Zornitza Stark Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM# 619185; Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Anophthalmia_Microphthalmia_Coloboma v1.2 TOGARAM1 Zornitza Stark Publications for gene: TOGARAM1 were set to 32747439
Anophthalmia_Microphthalmia_Coloboma v1.1 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v1.1 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.0 TOGARAM1 Zornitza Stark edited their review of gene: TOGARAM1: Added comment: Additional family with microphthalmia as part of a ciliopathy phenotype reported in PMID 32453716.; Changed rating: AMBER; Changed publications: 32747439, 32453716
Mendeliome v0.6440 TOGARAM1 Zornitza Stark Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM# 619185
Mendeliome v0.6439 TOGARAM1 Zornitza Stark Publications for gene: TOGARAM1 were set to 32747439
Mendeliome v0.6438 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Green List (high evidence)
Mendeliome v0.6438 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Mendeliome v0.6437 TOGARAM1 Zornitza Stark reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32453716; Phenotypes: Joubert syndrome 37, MIM# 619185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.229 TOGARAM1 Zornitza Stark edited their review of gene: TOGARAM1: Changed phenotypes: Joubert syndrome 37, MIM# 619185
Ciliopathies v0.229 TOGARAM1 Zornitza Stark Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM# 619185
Ciliopathies v0.228 TOGARAM1 Zornitza Stark Publications for gene: TOGARAM1 were set to 32747439
Ciliopathies v0.227 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Green List (high evidence)
Ciliopathies v0.227 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Ciliopathies v0.226 TOGARAM1 Zornitza Stark edited their review of gene: TOGARAM1: Added comment: PMID 32453716: 5 unrelated individuals with Joubert syndrome.; Changed rating: GREEN; Changed publications: 32747439, 32453716
Glycogen Storage Diseases v0.37 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Glycogen Storage Diseases v0.37 ALDOB Zornitza Stark Gene: aldob has been classified as Red List (Low Evidence).
Glycogen Storage Diseases v0.37 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, MIM# 229600
Glycogen Storage Diseases v0.36 ALDOB Zornitza Stark Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.35 ALDOB Zornitza Stark Classified gene: ALDOB as Red List (low evidence)
Glycogen Storage Diseases v0.35 ALDOB Zornitza Stark Gene: aldob has been classified as Red List (Low Evidence).
Glycogen Storage Diseases v0.34 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6437 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Mendeliome v0.6437 ALDOA Zornitza Stark Gene: aldoa has been classified as Green List (High Evidence).
Mendeliome v0.6437 ALDOA Zornitza Stark Phenotypes for gene: ALDOA were changed from to Glycogen storage disease XII , MIM#611881
Mendeliome v0.6436 ALDOA Zornitza Stark Publications for gene: ALDOA were set to
Mendeliome v0.6435 ALDOA Zornitza Stark Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6434 ALDOA Zornitza Stark reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7331996, 8598869, 25392908; Phenotypes: Glycogen storage disease XII , MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.34 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Glycogen Storage Diseases v0.34 ALDOA Zornitza Stark Gene: aldoa has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.34 ALDOA Zornitza Stark Phenotypes for gene: ALDOA were changed from to Glycogen storage disease XII , MIM#611881
Glycogen Storage Diseases v0.33 ALDOA Zornitza Stark Publications for gene: ALDOA were set to
Glycogen Storage Diseases v0.32 ALDOA Zornitza Stark Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.31 ALDOA Zornitza Stark reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7331996, 8598869, 25392908; Phenotypes: Glycogen storage disease XII , MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Stationary Night Blindness v0.9 RDH5 Zornitza Stark Mode of inheritance for gene: RDH5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6434 RDH5 Zornitza Stark Marked gene: RDH5 as ready
Mendeliome v0.6434 RDH5 Zornitza Stark Gene: rdh5 has been classified as Green List (High Evidence).
Mendeliome v0.6434 RDH5 Zornitza Stark Phenotypes for gene: RDH5 were changed from to Fundus albipunctatus (MIM#136880)
Mendeliome v0.6433 RDH5 Zornitza Stark Publications for gene: RDH5 were set to
Mendeliome v0.6432 RDH5 Zornitza Stark Mode of inheritance for gene: RDH5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6431 RPGRIP1 Zornitza Stark Marked gene: RPGRIP1 as ready
Mendeliome v0.6431 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Mendeliome v0.6431 RPGRIP1 Zornitza Stark Phenotypes for gene: RPGRIP1 were changed from to Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382)
Mendeliome v0.6430 RPGRIP1 Zornitza Stark Publications for gene: RPGRIP1 were set to
Mendeliome v0.6429 RPGRIP1 Zornitza Stark Mode of inheritance for gene: RPGRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6428 RPGRIP1 Ain Roesley reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33308271, 31666973; Phenotypes: Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6428 IRX4 Zornitza Stark Marked gene: IRX4 as ready
Mendeliome v0.6428 IRX4 Zornitza Stark Gene: irx4 has been classified as Red List (Low Evidence).
Mendeliome v0.6428 IRX4 Zornitza Stark Phenotypes for gene: IRX4 were changed from to Ventricular septal defect
Mendeliome v0.6427 IRX4 Zornitza Stark Publications for gene: IRX4 were set to
Mendeliome v0.6426 IRX4 Zornitza Stark Mode of inheritance for gene: IRX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6425 IRX4 Zornitza Stark Classified gene: IRX4 as Red List (low evidence)
Mendeliome v0.6425 IRX4 Zornitza Stark Gene: irx4 has been classified as Red List (Low Evidence).
Mendeliome v0.6424 IRX4 Zornitza Stark reviewed gene: IRX4: Rating: RED; Mode of pathogenicity: None; Publications: 21544582; Phenotypes: Ventricular septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6424 AKAP6 Zornitza Stark Marked gene: AKAP6 as ready
Mendeliome v0.6424 AKAP6 Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6424 AKAP6 Zornitza Stark Phenotypes for gene: AKAP6 were changed from to Intellectual disability
Mendeliome v0.6423 AKAP6 Zornitza Stark Publications for gene: AKAP6 were set to
Mendeliome v0.6422 AKAP6 Zornitza Stark Mode of inheritance for gene: AKAP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6421 AKAP6 Zornitza Stark Classified gene: AKAP6 as Amber List (moderate evidence)
Mendeliome v0.6421 AKAP6 Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6420 ASCC3 Bryony Thompson Marked gene: ASCC3 as ready
Mendeliome v0.6420 ASCC3 Bryony Thompson Gene: ascc3 has been classified as Green List (High Evidence).
Mendeliome v0.6420 ASCC3 Bryony Thompson Classified gene: ASCC3 as Green List (high evidence)
Mendeliome v0.6420 ASCC3 Bryony Thompson Gene: ascc3 has been classified as Green List (High Evidence).
Mendeliome v0.6419 ASCC3 Bryony Thompson gene: ASCC3 was added
gene: ASCC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Phenotypes for gene: ASCC3 were set to Neuromuscular syndrome; congenital myopathy
Review for gene: ASCC3 was set to GREEN
Added comment: 11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue.
Sources: Literature
Mendeliome v0.6418 RDH5 Ain Roesley reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32232344; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v0.252 HS2ST1 Zornitza Stark Marked gene: HS2ST1 as ready
Arthrogryposis v0.252 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.252 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis
Arthrogryposis v0.251 HS2ST1 Zornitza Stark edited their review of gene: HS2ST1: Changed phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194, Intellectual disability, dysmorphic features, congenital anomalies, arthrogryposis
Miscellaneous Metabolic Disorders v1.1 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism
Miscellaneous Metabolic Disorders v1.0 HS2ST1 Zornitza Stark reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3461 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies
Intellectual disability syndromic and non-syndromic v0.3460 HS2ST1 Zornitza Stark reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6418 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from Intellectual disability; dysmorphic features; congenital anomalies to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Intellectual disability; dysmorphic features; congenital anomalies
Mendeliome v0.6417 HS2ST1 Zornitza Stark reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3460 UBR7 Zornitza Stark Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Intellectual disability syndromic and non-syndromic v0.3459 UBR7 Zornitza Stark edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features
Genetic Epilepsy v0.1022 UBR7 Zornitza Stark Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Genetic Epilepsy v0.1021 UBR7 Zornitza Stark edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features
Mendeliome v0.6417 UBR7 Zornitza Stark Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Mendeliome v0.6416 UBR7 Zornitza Stark edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features
Congenital Heart Defect v0.88 UBR7 Zornitza Stark Phenotypes for gene: UBR7 were changed from Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features to Li-Campeau syndrome, MIM# 619189; Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Congenital Heart Defect v0.87 UBR7 Zornitza Stark edited their review of gene: UBR7: Changed phenotypes: Li-Campeau syndrome, MIM# 619189, Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features
Intellectual disability syndromic and non-syndromic v0.3459 ZNF292 Zornitza Stark Phenotypes for gene: ZNF292 were changed from Intellectual disability; autism; ADHD to Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; autism; ADHD
Intellectual disability syndromic and non-syndromic v0.3458 ZNF292 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.3458 ZNF292 Zornitza Stark edited their review of gene: ZNF292: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6416 ZNF292 Zornitza Stark Phenotypes for gene: ZNF292 were changed from Intellectual disability; Autism; ADHD to Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; Autism; ADHD
Mendeliome v0.6415 ZNF292 Zornitza Stark edited their review of gene: ZNF292: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 63, MIM# 619188, Intellectual disability, Autism, ADHD
Usher Syndrome v1.2 ARSG Bryony Thompson Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023
Usher Syndrome v1.1 ARSG Bryony Thompson Classified gene: ARSG as Green List (high evidence)
Usher Syndrome v1.1 ARSG Bryony Thompson Added comment: Comment on list classification: 2 additional families reported, upgraded to green
Usher Syndrome v1.1 ARSG Bryony Thompson Gene: arsg has been classified as Green List (High Evidence).
Usher Syndrome v1.0 ARSG Bryony Thompson reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174, 29300381, 32455177, 26975023; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6415 ARSG Bryony Thompson Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023; 32455177
Mendeliome v0.6414 ARSG Bryony Thompson Classified gene: ARSG as Green List (high evidence)
Mendeliome v0.6414 ARSG Bryony Thompson Added comment: Comment on list classification: 2 additional families reported, upgraded to green
Mendeliome v0.6414 ARSG Bryony Thompson Gene: arsg has been classified as Green List (High Evidence).
Mendeliome v0.6413 ARSG Bryony Thompson reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174, 29300381, 32455177, 26975023; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3458 LMNB2 Zornitza Stark Phenotypes for gene: LMNB2 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability to Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly; Global developmental delay; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3457 LMNB2 Zornitza Stark reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 27, primary, autosomal dominant, MIM# 619180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.523 LMNB2 Zornitza Stark Phenotypes for gene: LMNB2 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability to Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly; Global developmental delay; Intellectual disability
Microcephaly v0.522 LMNB2 Zornitza Stark reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 27, primary, autosomal dominant, MIM# 619180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6413 LMNB2 Zornitza Stark Phenotypes for gene: LMNB2 were changed from {Lipodystrophy, partial, acquired, susceptibility to} 608709; Congenital microcephaly, Intellectual disability to {Lipodystrophy, partial, acquired, susceptibility to} 608709; Microcephaly 27, primary, autosomal dominant, MIM# 619180; Congenital microcephaly, Intellectual disability
Mendeliome v0.6412 LMNB2 Zornitza Stark edited their review of gene: LMNB2: Changed phenotypes: {Lipodystrophy, partial, acquired, susceptibility to} 608709, Microcephaly 27, primary, autosomal dominant, MIM# 619180, Congenital microcephaly, Intellectual disability
Autonomic neuropathy v0.42 LMNB1 Zornitza Stark Tag SV/CNV tag was added to gene: LMNB1.
Intellectual disability syndromic and non-syndromic v0.3457 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Microcephaly v0.522 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis
Microcephaly v0.521 LMNB1 Zornitza Stark edited their review of gene: LMNB1: Changed phenotypes: Microcephaly 26, primary, autosomal dominant, MIM# 619179, Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis
Mendeliome v0.6412 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Mendeliome v0.6411 LMNB1 Zornitza Stark edited their review of gene: LMNB1: Changed phenotypes: Microcephaly 26, primary, autosomal dominant, MIM# 619179, Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis, Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Intellectual disability syndromic and non-syndromic v0.3456 FGF13 Zornitza Stark Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy
Intellectual disability syndromic and non-syndromic v0.3455 FGF13 Zornitza Stark edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy
Genetic Epilepsy v0.1021 FGF13 Zornitza Stark Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy
Genetic Epilepsy v0.1020 FGF13 Zornitza Stark edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy
Mendeliome v0.6411 FGF13 Zornitza Stark Phenotypes for gene: FGF13 were changed from Intellectual disability; epilepsy to Developmental and epileptic encephalopathy 90, MIM# 301058; Intellectual disability; epilepsy
Mendeliome v0.6410 FGF13 Zornitza Stark edited their review of gene: FGF13: Changed phenotypes: Developmental and epileptic encephalopathy 90, MIM# 301058, Intellectual disability, epilepsy
Mendeliome v0.6410 CRYM Zornitza Stark Marked gene: CRYM as ready
Mendeliome v0.6410 CRYM Zornitza Stark Gene: crym has been classified as Green List (High Evidence).
Mendeliome v0.6410 CRYM Zornitza Stark Phenotypes for gene: CRYM were changed from to Deafness, autosomal dominant 40 MIM#616357
Mendeliome v0.6409 CRYM Zornitza Stark Publications for gene: CRYM were set to
Mendeliome v0.6408 CRYM Zornitza Stark Mode of inheritance for gene: CRYM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.52 CRYM Zornitza Stark Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689
Deafness_IsolatedAndComplex v1.51 CRYM Zornitza Stark Classified gene: CRYM as Green List (high evidence)
Deafness_IsolatedAndComplex v1.51 CRYM Zornitza Stark Gene: crym has been classified as Green List (High Evidence).
Mendeliome v0.6407 CRYM Paul De Fazio reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378, 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Deafness_IsolatedAndComplex v1.50 CRYM Paul De Fazio reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.6407 HARS Zornitza Stark Marked gene: HARS as ready
Mendeliome v0.6407 HARS Zornitza Stark Gene: hars has been classified as Green List (High Evidence).
Mendeliome v0.6407 HARS Zornitza Stark Phenotypes for gene: HARS were changed from Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625 to Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625; Usher syndrome type 3B MIM#614504; Multisystemic ataxic syndrome
Mendeliome v0.6406 HARS Zornitza Stark Publications for gene: HARS were set to 26072516
Mendeliome v0.6405 HARS Zornitza Stark Mode of inheritance for gene: HARS 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 v0.6404 HARS Elena Savva reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32333447, 32940403, 26072516; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625, Usher syndrome type 3B MIM#614504, Multisystemic ataxic syndrome; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6404 CFAP47 Zornitza Stark Phenotypes for gene: CFAP47 were changed from asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF) to Spermatogenic failure, X-linked, 3, MIM# 301059; asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)
Mendeliome v0.6403 CFAP47 Zornitza Stark edited their review of gene: CFAP47: Changed phenotypes: Spermatogenic failure, X-linked, 3, MIM# 301059
Mendeliome v0.6403 PSMG2 Zornitza Stark Phenotypes for gene: PSMG2 were changed from CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy to Proteasome-associated autoinflammatory syndrome 4, MIM# 619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Mendeliome v0.6402 PSMG2 Zornitza Stark edited their review of gene: PSMG2: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 4, MIM# 619183, CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy
Autoinflammatory Disorders v0.103 PSMG2 Zornitza Stark Phenotypes for gene: PSMG2 were changed from CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy to Proteasome-associated autoinflammatory syndrome 4, MIM# 619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Autoinflammatory Disorders v0.102 PSMG2 Zornitza Stark edited their review of gene: PSMG2: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 4, MIM# 619183, CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy
Mendeliome v0.6402 PSMB10 Zornitza Stark Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
Mendeliome v0.6401 PSMB10 Zornitza Stark edited their review of gene: PSMB10: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
Autoinflammatory Disorders v0.102 PSMB10 Zornitza Stark Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
Autoinflammatory Disorders v0.101 PSMB10 Zornitza Stark edited their review of gene: PSMB10: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175, Autoinflammatory syndrome
Mendeliome v0.6401 PMVK Zornitza Stark Marked gene: PMVK as ready
Mendeliome v0.6401 PMVK Zornitza Stark Gene: pmvk has been classified as Green List (High Evidence).
Mendeliome v0.6401 PMVK Zornitza Stark Classified gene: PMVK as Green List (high evidence)
Mendeliome v0.6401 PMVK Zornitza Stark Gene: pmvk has been classified as Green List (High Evidence).
Mendeliome v0.6400 PMVK Zornitza Stark gene: PMVK was added
gene: PMVK was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 26202976
Phenotypes for gene: PMVK were set to Porokeratosis 1, multiple types, MIM# 175800
Review for gene: PMVK was set to GREEN
Added comment: At least 9 individuals reported.
Sources: Expert Review
Mosaic skin disorders v1.0 Zornitza Stark promoted panel to version 1.0
Mosaic skin disorders v0.41 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease; Tasmanian Clinical Genetics Service
Mosaic skin disorders v0.40 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Mosaic skin disorders v0.40 CARD14 Zornitza Stark Gene: card14 has been classified as Red List (Low Evidence).
Mosaic skin disorders v0.40 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from ILVEN (submitted 2 cases) to Inflammatory linear verrucous epidermal naevus
Mosaic skin disorders v0.39 CARD14 Zornitza Stark changed review comment from: Cannot find evidence for somatic mosaicism.; to: Unpublished data.
Mosaic skin disorders v0.39 CARD14 Zornitza Stark edited their review of gene: CARD14: Changed phenotypes: Inflammatory linear verrucous epidermal naevus
Mosaic skin disorders v0.39 CARD14 Zornitza Stark reviewed gene: CARD14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pityriasis rubra pilaris, MIM# 173200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.39 TEK Zornitza Stark Marked gene: TEK as ready
Mosaic skin disorders v0.39 TEK Zornitza Stark Gene: tek has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.39 TEK Zornitza Stark reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27519652; Phenotypes: Venous malformations, multiple cutaneous and mucosal, 600195; Mode of inheritance: None
Mosaic skin disorders v0.39 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Mosaic skin disorders v0.39 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.39 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from Cardio-facio-cutaneous syndrome to vascular malformations
Mosaic skin disorders v0.38 TSC2 Zornitza Stark Tag somatic tag was added to gene: TSC2.
Mosaic skin disorders v0.38 TSC1 Zornitza Stark Tag somatic tag was added to gene: TSC1.
Mosaic skin disorders v0.38 PIK3R2 Zornitza Stark Tag somatic tag was added to gene: PIK3R2.
Mosaic skin disorders v0.38 NF2 Zornitza Stark Tag somatic tag was added to gene: NF2.
Mosaic skin disorders v0.38 NF1 Zornitza Stark Tag somatic tag was added to gene: NF1.
Mosaic skin disorders v0.38 MTOR Zornitza Stark Tag somatic tag was added to gene: MTOR.
Mosaic skin disorders v0.38 MAP3K3 Zornitza Stark Tag somatic tag was added to gene: MAP3K3.
Mosaic skin disorders v0.38 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Mosaic skin disorders v0.38 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mosaic skin disorders v0.37 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Mosaic skin disorders v0.37 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.37 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254
Mosaic skin disorders v0.36 TSC2 Zornitza Stark Classified gene: TSC2 as Green List (high evidence)
Mosaic skin disorders v0.36 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.35 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.35 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Mosaic skin disorders v0.35 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.35 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100
Mosaic skin disorders v0.34 TSC1 Zornitza Stark Classified gene: TSC1 as Green List (high evidence)
Mosaic skin disorders v0.34 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.33 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.33 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Mosaic skin disorders v0.33 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.33 PIK3R2 Zornitza Stark Phenotypes for gene: PIK3R2 were changed from to Megalencephaly syndromes
Mosaic skin disorders v0.32 PIK3R2 Zornitza Stark Classified gene: PIK3R2 as Green List (high evidence)
Mosaic skin disorders v0.32 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.31 PIK3R2 Zornitza Stark reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly syndromes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.31 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Mosaic skin disorders v0.31 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.31 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly syndromes
Mosaic skin disorders v0.30 AKT3 Zornitza Stark Publications for gene: AKT3 were set to PMID: 22729224
Mosaic skin disorders v0.29 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly syndromes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.29 AKT3 Zornitza Stark Tag somatic tag was added to gene: AKT3.
Mosaic skin disorders v0.29 AKT3 Zornitza Stark Classified gene: AKT3 as Green List (high evidence)
Mosaic skin disorders v0.29 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.28 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Mosaic skin disorders v0.28 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Mosaic skin disorders v0.28 PTPN11 Zornitza Stark Classified gene: PTPN11 as Red List (low evidence)
Mosaic skin disorders v0.28 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Mosaic skin disorders v0.27 PTPN11 Zornitza Stark reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mosaic skin disorders v0.27 PMVK Zornitza Stark Publications for gene: PMVK were set to 30942823
Mosaic skin disorders v0.26 PMVK Zornitza Stark edited their review of gene: PMVK: Changed publications: 26202976
Mosaic skin disorders v0.26 PMVK Zornitza Stark Marked gene: PMVK as ready
Mosaic skin disorders v0.26 PMVK Zornitza Stark Gene: pmvk has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.26 PMVK Zornitza Stark Phenotypes for gene: PMVK were changed from Linear porokeratosis to Linear porokeratosis; Porokeratosis 1, multiple types, MIM# 175800
Mosaic skin disorders v0.25 PMVK Zornitza Stark reviewed gene: PMVK: Rating: AMBER; Mode of pathogenicity: None; Publications: Porokeratosis 1, multiple types, MIM# 175800; Phenotypes: Porokeratosis 1, multiple types, MIM# 175800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6399 MVD Zornitza Stark Marked gene: MVD as ready
Mendeliome v0.6399 MVD Zornitza Stark Gene: mvd has been classified as Green List (High Evidence).
Mendeliome v0.6399 MVD Zornitza Stark Classified gene: MVD as Green List (high evidence)
Mendeliome v0.6399 MVD Zornitza Stark Gene: mvd has been classified as Green List (High Evidence).
Mendeliome v0.6398 MVD Zornitza Stark gene: MVD was added
gene: MVD was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823; 33491095
Phenotypes for gene: MVD were set to Porokeratosis 7, multiple types, MIM# 614714
Review for gene: MVD was set to GREEN
Added comment: Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mutation present in affected skin have been shown to be the patho-genetic mechanism for the development of the lesions. At least 5 individuals reported.
Sources: Expert list
Mosaic skin disorders v0.25 MVD Zornitza Stark Marked gene: MVD as ready
Mosaic skin disorders v0.25 MVD Zornitza Stark Gene: mvd has been classified as Green List (High Evidence).
Mosaic skin disorders v0.25 MVD Zornitza Stark Phenotypes for gene: MVD were changed from Linear porokeratosis to Linear porokeratosis; Porokeratosis 7, multiple types, MIM# 614714
Mosaic skin disorders v0.24 MVD Zornitza Stark Publications for gene: MVD were set to 30942823
Mosaic skin disorders v0.23 MVD Zornitza Stark Classified gene: MVD as Green List (high evidence)
Mosaic skin disorders v0.23 MVD Zornitza Stark Gene: mvd has been classified as Green List (High Evidence).
Mosaic skin disorders v0.22 MVD Zornitza Stark reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 33491095; Phenotypes: Porokeratosis 7, multiple types, MIM# 614714; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.22 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Mosaic skin disorders v0.22 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Mosaic skin disorders v0.22 IKBKG Zornitza Stark Tag somatic tag was added to gene: IKBKG.
Mosaic skin disorders v0.22 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300 to Incontinentia pigmenti, 308300
Mosaic skin disorders v0.21 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Mosaic skin disorders v0.20 IKBKG Zornitza Stark Classified gene: IKBKG as Green List (high evidence)
Mosaic skin disorders v0.20 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Mosaic skin disorders v0.19 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 32908217, 29077987; Phenotypes: Incontinentia pigment, MIM#i 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mosaic skin disorders v0.19 FGFR2 Zornitza Stark Tag somatic tag was added to gene: FGFR2.
Mosaic skin disorders v0.19 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Mosaic skin disorders v0.19 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.19 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from Epdermal naevi to Keratinocytic epidermal naevi
Mosaic skin disorders v0.18 FGFR2 Zornitza Stark Publications for gene: FGFR2 were set to 9728990
Mosaic skin disorders v0.17 FGFR2 Zornitza Stark Classified gene: FGFR2 as Green List (high evidence)
Mosaic skin disorders v0.17 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.16 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937562, 30580445; Phenotypes: Keratinocytic epidermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.16 ATP2A2 Zornitza Stark Marked gene: ATP2A2 as ready
Mosaic skin disorders v0.16 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.16 ATP2A2 Zornitza Stark Phenotypes for gene: ATP2A2 were changed from to Darier disease, MIM# 124200
Mosaic skin disorders v0.15 ATP2A2 Zornitza Stark Publications for gene: ATP2A2 were set to
Mosaic skin disorders v0.14 ATP2A2 Zornitza Stark Classified gene: ATP2A2 as Green List (high evidence)
Mosaic skin disorders v0.14 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.13 ATP2A2 Zornitza Stark Tag somatic tag was added to gene: ATP2A2.
Mosaic skin disorders v0.13 ATP2A2 Zornitza Stark reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30085326, 26154588, 21720150, 12890216; Phenotypes: Darier disease, MIM# 124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.13 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Mosaic skin disorders v0.13 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.13 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from Legius syndrome to Legius syndrome, MIM# 611431
Mosaic skin disorders v0.12 SPRED1 Zornitza Stark Tag somatic tag was added to gene: SPRED1.
Mosaic skin disorders v0.12 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.12 SMO Zornitza Stark Marked gene: SMO as ready
Mosaic skin disorders v0.12 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Mosaic skin disorders v0.12 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Curry-Jones syndrome to Curry-Jones syndrome, MIM#601707
Mosaic skin disorders v0.11 SMO Zornitza Stark reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Curry-Jones syndrome, MIM#601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.11 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Mosaic skin disorders v0.11 RHOA Zornitza Stark Marked gene: RHOA as ready
Mosaic skin disorders v0.11 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Mosaic skin disorders v0.11 RHOA Zornitza Stark Tag somatic tag was added to gene: RHOA.
Mosaic skin disorders v0.11 RHOA Zornitza Stark reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Blaschko-linear hypopigmentation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.11 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Mosaic skin disorders v0.11 RASA1 Zornitza Stark Gene: rasa1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.11 RASA1 Zornitza Stark Classified gene: RASA1 as Amber List (moderate evidence)
Mosaic skin disorders v0.11 RASA1 Zornitza Stark Gene: rasa1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.10 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.10 PTEN Zornitza Stark Tag somatic tag was added to gene: PTEN.
Mosaic skin disorders v0.10 PTEN Zornitza Stark Marked gene: PTEN as ready
Mosaic skin disorders v0.10 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Mosaic skin disorders v0.10 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermal naevi, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.10 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Mosaic skin disorders v0.10 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Mosaic skin disorders v0.10 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Vascular malformations; PIK3CA-related overgrowth syndromes to Vascular malformations; PIK3CA-related overgrowth syndromes; CLAPO syndrome, somatic 613089; CLOVE syndrome, somatic 612918; Nevus, epidermal, somatic 162900
Mosaic skin disorders v0.9 PIK3CA Zornitza Stark Tag somatic tag was added to gene: PIK3CA.
Mosaic skin disorders v0.9 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vascular malformations, PIK3CA-related overgrowth syndromes, CLAPO syndrome, somatic 613089, CLOVE syndrome, somatic 612918, Nevus, epidermal, somatic 162900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.9 NRAS Zornitza Stark Tag somatic tag was added to gene: NRAS.
Mosaic skin disorders v0.9 NRAS Zornitza Stark Marked gene: NRAS as ready
Mosaic skin disorders v0.9 NRAS Zornitza Stark Gene: nras has been classified as Green List (High Evidence).
Mosaic skin disorders v0.9 NRAS Zornitza Stark reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Melanocytic naevi, Congenital melanocytic naevus syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.9 NF2 Zornitza Stark Marked gene: NF2 as ready
Mosaic skin disorders v0.9 NF2 Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.9 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from NF2; NEUROFIBROMATOSIS, TYPE II to Schwannomatosis, somatic 162091; Meningioma, NF2-related, somatic 607174; Neurofibromatosis, type 2 101000
Mosaic skin disorders v0.8 NF2 Zornitza Stark Mode of inheritance for gene: NF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.7 NF2 Zornitza Stark edited their review of gene: NF2: Changed publications: 29409008
Mosaic skin disorders v0.7 NF2 Zornitza Stark reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwannomatosis, somatic 162091, Meningioma, NF2-related, somatic 607174, Neurofibromatosis, type 2 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.7 NF1 Zornitza Stark Marked gene: NF1 as ready
Mosaic skin disorders v0.7 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.7 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from Neurofibromatosis type I to Neurofibromatosis type I, MIM#162200
Mosaic skin disorders v0.6 NF1 Zornitza Stark edited their review of gene: NF1: Changed phenotypes: Neurofibromatosis type I, MIM#162200
Mosaic skin disorders v0.6 NF1 Zornitza Stark reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.6 MTOR Zornitza Stark Marked gene: MTOR as ready
Mosaic skin disorders v0.6 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Mosaic skin disorders v0.6 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomelanosis of Ito/Blaschko-linear hypopigmentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.6 MAP3K3 Zornitza Stark Marked gene: MAP3K3 as ready
Mosaic skin disorders v0.6 MAP3K3 Zornitza Stark Gene: map3k3 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.6 MAP3K3 Zornitza Stark reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Verrucous haemangiomas; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.6 GNAS Zornitza Stark Tag somatic tag was added to gene: GNAS.
Mosaic skin disorders v0.6 Zornitza Stark Panel types changed to Rare Disease
Mosaic skin disorders v0.5 MAP2K1 Zornitza Stark Classified gene: MAP2K1 as Amber List (moderate evidence)
Mosaic skin disorders v0.5 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.4 MAP2K1 Zornitza Stark reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: vascular malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Mosaic skin disorders v0.4 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 KRT10 Zornitza Stark edited their review of gene: KRT10: Changed phenotypes: Epidermolytic hyperkeratosis MIM#113800, Pachyonychia congenita, Ichythosis with confetti, MIM#609165, Palmoplantar keratoderma
Mosaic skin disorders v0.4 KRT10 Zornitza Stark reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolytic hyperkeratosis, Pachyonychia congenita, Ichythosis with confetti, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Mosaic skin disorders v0.4 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 KRT1 Zornitza Stark Tag somatic tag was added to gene: KRT1.
Mosaic skin disorders v0.4 KRT1 Zornitza Stark reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis histrix, Epidermolytic hyperkeratosis, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 KRAS Zornitza Stark Marked gene: KRAS as ready
Mosaic skin disorders v0.4 KRAS Zornitza Stark Gene: kras has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 KRAS Zornitza Stark Tag somatic tag was added to gene: KRAS.
Mosaic skin disorders v0.4 KRAS Zornitza Stark reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermal naevi, Schimmelpenning syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 IDH2 Zornitza Stark Marked gene: IDH2 as ready
Mosaic skin disorders v0.4 IDH2 Zornitza Stark Gene: idh2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 IDH2 Zornitza Stark Tag somatic tag was added to gene: IDH2.
Mosaic skin disorders v0.4 IDH2 Zornitza Stark reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 IDH1 Zornitza Stark Marked gene: IDH1 as ready
Mosaic skin disorders v0.4 IDH1 Zornitza Stark Gene: idh1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 IDH1 Zornitza Stark Tag somatic tag was added to gene: IDH1.
Mosaic skin disorders v0.4 IDH1 Zornitza Stark reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 HRAS Zornitza Stark Marked gene: HRAS as ready
Mosaic skin disorders v0.4 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 HRAS Zornitza Stark Tag somatic tag was added to gene: HRAS.
Mosaic skin disorders v0.4 HRAS Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phakomatosis pigmentokeratotica, Epidermal naevi, Woolly hair, Costello syndrome, Schimmelpenning syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 GNAS Zornitza Stark Marked gene: GNAS as ready
Mosaic skin disorders v0.4 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 GNAS Zornitza Stark Publications for gene: GNAS were set to 12970318
Mosaic skin disorders v0.3 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: McCune-Albright syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Mosaic skin disorders v0.3 GNAQ Zornitza Stark Gene: gnaq has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 GNAQ Zornitza Stark reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Extensive dermal melanocytosis, Sturge Weber syndrome, Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 GNA14 Zornitza Stark Marked gene: GNA14 as ready
Mosaic skin disorders v0.3 GNA14 Zornitza Stark Gene: gna14 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 GNA14 Zornitza Stark Tag somatic tag was added to gene: GNA14.
Mosaic skin disorders v0.3 GNA14 Zornitza Stark reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaposiform endothelioma, Tufted angioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Mosaic skin disorders v0.3 GNA11 Zornitza Stark Gene: gna11 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 GNA11 Zornitza Stark Tag somatic tag was added to gene: GNA11.
Mosaic skin disorders v0.3 GNA11 Zornitza Stark reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Extensive dermal melanocytosis, Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 ACTB Zornitza Stark Tag somatic tag was added to gene: ACTB.
Mosaic skin disorders v0.3 AKT1 Zornitza Stark Tag somatic tag was added to gene: AKT1.
Mosaic skin disorders v0.3 FGFR1 Zornitza Stark Tag somatic tag was added to gene: FGFR1.
Mosaic skin disorders v0.3 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Mosaic skin disorders v0.3 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 FGFR3 Zornitza Stark Tag somatic tag was added to gene: FGFR3.
Mosaic skin disorders v0.3 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermal naevi, Syringocystadenoma papilliferum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Mosaic skin disorders v0.3 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Mosaic skin disorders v0.3 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from Proteus syndrome to Proteus syndrome, somatic 176920
Mosaic skin disorders v0.2 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: Proteus syndrome, somatic 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.2 ACTB Zornitza Stark Marked gene: ACTB as ready
Mosaic skin disorders v0.2 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Mosaic skin disorders v0.2 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Becker's naevus
Mosaic skin disorders v0.1 PIK3R2 Mathew Wallis edited their review of gene: PIK3R2: Changed publications: PMID: 22729224
Mosaic skin disorders v0.1 PIK3R2 Mathew Wallis edited their review of gene: PIK3R2: Changed publications: PMID: 22729224, PMID: 22729224
Mosaic skin disorders v0.1 AKT3 Mathew Wallis gene: AKT3 was added
gene: AKT3 was added to Mosaic skin disorders. Sources: Literature
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT3 were set to PMID: 22729224
Review for gene: AKT3 was set to GREEN
Added comment: Sources: Literature
Mosaic skin disorders v0.1 TSC2 Mathew Wallis changed review comment from: Sources: Literature, Expert Review; to: Sources: Literature
Mosaic skin disorders v0.1 TSC1 Mathew Wallis changed review comment from: Sources: Expert Review, Literature; to: Sources: Literature
Mosaic skin disorders v0.1 PIK3R2 Mathew Wallis gene: PIK3R2 was added
gene: PIK3R2 was added to Mosaic skin disorders. Sources: Literature
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R2 were set to PMID: 22729224
Review for gene: PIK3R2 was set to GREEN
Added comment: Sources: Literature
Mosaic skin disorders v0.1 TSC2 Mathew Wallis gene: TSC2 was added
gene: TSC2 was added to Mosaic skin disorders. Sources: Literature,Expert Review
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC2 were set to PMID: 26540169
Review for gene: TSC2 was set to GREEN
Added comment: Sources: Literature, Expert Review
Mosaic skin disorders v0.1 TSC1 Mathew Wallis gene: TSC1 was added
gene: TSC1 was added to Mosaic skin disorders. Sources: Expert Review,Literature
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC1 were set to PMID: 26540169
Review for gene: TSC1 was set to GREEN
Added comment: Sources: Expert Review, Literature
Mosaic skin disorders v0.1 KRT10 Mathew Wallis reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29135017, PMID: 25495838; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRT10 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 KRT1 Mathew Wallis reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28532675, PMID: 17255957; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRT1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 KRAS Mathew Wallis edited their review of gene: KRAS: Changed publications: PMID: 22499344, PMID: 22683711, PMID: 26970110, PMID: 25808193
Mosaic skin disorders v0.1 KRAS Mathew Wallis reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22683711; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRAS Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 IDH2 Mathew Wallis reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 22057234; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 IDH2 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 IDH1 Mathew Wallis reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22057234; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 IDH1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 HRAS Mathew Wallis reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22683711, PMID: 24006476; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 HRAS Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 GNAS Mathew Wallis edited their review of gene: GNAS: Changed publications: PMID: 12970318, PMID: 15126527, PMID: 10646121, PMID: 1594625, PMID: 1944469
Mosaic skin disorders v0.1 GNAS Mathew Wallis reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12970318; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNAS Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 GNAQ Mathew Wallis reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26778290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNAQ Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 GNA14 Mathew Wallis reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27476652; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNA14 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 GNA11 Mathew Wallis reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26778290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNA11 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 FGFR3 Mathew Wallis reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16841094, PMID: 22499344; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 FGFR3 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 FGFR1 Mathew Wallis reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26942290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 FGFR1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 AKT1 Mathew Wallis reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21793738; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 AKT1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 ACTB Mathew Wallis reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28347698; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 ACTB Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 SPRED1 Mathew Wallis reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27423141; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 SMO Mathew Wallis reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27236920; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 RHOA Mathew Wallis reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31570889; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 RASA1 Mathew Wallis reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24038909, PMID: 30635911; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 PTEN Mathew Wallis reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10749983, PMID: 12471211; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 PIK3CA Mathew Wallis reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22729224, PMID: 29446767, PMID: 23100325; Phenotypes: ; Mode of inheritance: None
Mosaic skin disorders v0.1 NRAS Mathew Wallis reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 24006476, PMID: 10878667; Phenotypes: ; Mode of inheritance: None
Mosaic skin disorders v0.1 NF1 Mathew Wallis reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17668375, PMID: 14605872; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted