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Cataract v0.225 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Cataract v0.224 BCOR Zornitza Stark Publications for gene: BCOR were set to
Cataract v0.223 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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)
Cataract v0.222 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Marked gene: BCOR as ready
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.64 BCOR Zornitza Stark Publications for gene: BCOR were set to
Anophthalmia_Microphthalmia_Coloboma v0.63 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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)
Anophthalmia_Microphthalmia_Coloboma v0.62 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; 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 v0.3696 BCOR Zornitza Stark Marked gene: BCOR as ready
Mendeliome v0.3696 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Mendeliome v0.3696 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Mendeliome v0.3695 BCOR Zornitza Stark Publications for gene: BCOR were set to
Mendeliome v0.3694 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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 v0.3693 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2823 BCOR Zornitza Stark Marked gene: BCOR as ready
Intellectual disability syndromic and non-syndromic v0.2823 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2823 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Intellectual disability syndromic and non-syndromic v0.2822 BCOR Zornitza Stark Publications for gene: BCOR were set to
Intellectual disability syndromic and non-syndromic v0.2821 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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 v0.2820 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; 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 v0.3693 SLC25A10 Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mendeliome v0.3692 SLC25A10 Zornitza Stark edited their review of gene: SLC25A10: Changed phenotypes: Intractable epileptic encephalopathy, Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mitochondrial disease v0.459 SLC25A10 Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mitochondrial disease v0.458 SLC25A10 Zornitza Stark reviewed gene: SLC25A10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29211846; Phenotypes: Mitochondrial DNA depletion syndrome 19, MIM# 618972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Adult_SuperPanel v0.296 Zornitza Stark Changed child panels to: Hypertrophic cardiomyopathy_HCM; Dilated Cardiomyopathy; Arrhythmogenic Cardiomyopathy; Left Ventricular Non-compaction Cardiomyopathy; Cardiomyopathy_Paediatric
Dilated Cardiomyopathy v0.83 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hypertrophic cardiomyopathy v0.153 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hypertrophic cardiomyopathy v0.152 GAA Zornitza Stark Phenotypes for gene: GAA were changed from to Glycogen storage disease II, MIM#232300
Hypertrophic cardiomyopathy v0.151 GAA Zornitza Stark Publications for gene: GAA were set to
Hypertrophic cardiomyopathy v0.150 GAA Zornitza Stark Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.149 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Hypertrophic cardiomyopathy v0.149 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.149 FHL1 Zornitza Stark Classified gene: FHL1 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.149 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.148 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Review for gene: FHL1 was set to GREEN
Added comment: HCM is part of the phenotype.
Sources: Expert list
Hypertrophic cardiomyopathy v0.147 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Hypertrophic cardiomyopathy v0.147 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.147 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to 26253506; 28490369; 28866666
Phenotypes for gene: CACNA1C were set to Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities
Review for gene: CACNA1C was set to RED
Added comment: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.
Sources: Expert list
Dilated Cardiomyopathy v0.82 LAMA4 Zornitza Stark Marked gene: LAMA4 as ready
Dilated Cardiomyopathy v0.82 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.146 GLA Zornitza Stark changed review comment from: HOCM can be a presenting feature of Fabry.; to: HCM can be a presenting feature of Fabry.
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Marked gene: LDB3 as ready
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from to Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493
Dilated Cardiomyopathy v0.81 LDB3 Zornitza Stark Publications for gene: LDB3 were set to 26419279; 16427346; 14660611; 14662268
Dilated Cardiomyopathy v0.81 LDB3 Zornitza Stark Publications for gene: LDB3 were set to
Dilated Cardiomyopathy v0.80 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.80 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.79 LDB3 Zornitza Stark Classified gene: LDB3 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.79 LDB3 Zornitza Stark Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.78 LDB3 Paul De Fazio reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Marked gene: BVES as ready
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Added comment: Comment when marking as ready: Not an arrhythmogenic cardiomyopathy.
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Gene: bves has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Classified gene: BVES as Red List (low evidence)
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Gene: bves has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Added comment: Comment when marking as ready: Included due to phenotypic overlap between ARVC and DCM, limited evidence for association with DCM.
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Gene: pkp2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Classified gene: PKP2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Gene: pkp2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Marked gene: EMD as ready
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Classified gene: EMD as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.76 PKP2 Paul De Fazio edited their review of gene: PKP2: Changed rating: AMBER
Dilated Cardiomyopathy v0.76 PKP2 Paul De Fazio gene: PKP2 was added
gene: PKP2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKP2 were set to 15489853; 16567567
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9 (MIM#609040)
gene: PKP2 was marked as current diagnostic
Added comment: Mutations in the PKP2 gene have been identified in individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC). This condition most commonly affects the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. ARVC increases the risk of an abnormal heartbeat (arrhythmia) and sudden death.

https://ghr.nlm.nih.gov/gene/PKP2
PMID:15489853, 16567567
https://doi.org/10.1371/journal.pone.0100560

ClinVar reports 1 variants only in an individual with DCM annotated as “LP” p.(His679Thr). No data regarding the variant associated with DCM is reported in GnomAD, supporting its low prevalence. However, if this is a variant linked to a clinical phenotype that initially manifested as ACM and then evolved into DCM is yet to be assessed. Considering that clinically cardiomyopathies are diseases with a progressive course, one cannot exclude that DCM cases carrying Pkp2 variants could be cases of advanced Arrythmogenic Cardiomyopathy (ACM or ARVC) which were missed in the initial disease phases. (https://doi.org/10.3389/fcvm.2018.00184)
Sources: Literature
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642
Phenotypes for gene: NKX2-5 were set to Dilated cardiomyopathy
Review for gene: NKX2-5 was set to RED
Added comment: Established gene-disease association with multiple cardiac phenotypes.

PMID: 30354339 (2018) - NKX2.5 variant segregated with disease in one large Icelandic family (11 affecteds with the variant, 12 unaffecteds with the variant - some young). Not in GnomAD but in 1/7100 Icelanders (0.0001 pop freq)

PMID: 28690296 (2017) - Cohort of sporadic adult onset DCM, 2 unrelated individuals with novel variants (absent in their control cohort and GnomAD), functional analysis show significantly reduced transcriptional activity and downstream impact on targets GATA4 and TBX20.

PMID: 25503402 (2015) - Cohort of idiopathic DCM, one family with novel variant (absent in GnomAD), segregated with disease in 3 affected family members (3 meiosis, 2 siblings and a child). Functional analysis revealed significantly reduced transcriptional activity

PMID: 27855642 (2016) - Two unrelated families with multiple affecteds. Same residue, alternate changes, both absent in GnomAD. Non-segregation mentioned, reduced penetrance stated explanation.
Sources: Expert list
Dilated Cardiomyopathy v0.75 EMD Paul De Fazio gene: EMD was added
gene: EMD was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to 24997722
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Review for gene: EMD was set to AMBER
gene: EMD was marked as current diagnostic
Added comment: Associated with Emery-Dreifuss muscular dystrophy. DCM can be a feature. Can find no evidence of isolated DCM.

1 Chinese family was reported with a frameshift variant in EMD who initially presented with only DCM, but were found to also have very mild skeletal muscle degeneration once the variant was discovered (PMID: 24997722).

After discussion with ZS Emery-Dreifuss can be difficult to diagnose, therefore this gene belongs on this panel.
Sources: Literature
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Marked gene: ILK as ready
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Publications for gene: ILK were set to 17646580; 27886618; 25163546
Dilated Cardiomyopathy v0.75 LAMA4 Zornitza Stark Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)
Dilated Cardiomyopathy v0.74 LAMA4 Zornitza Stark Publications for gene: LAMA4 were set to
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Marked gene: TAZ as ready
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Added comment: Comment when marking as ready: Included in the paediatric cardiomyopathy panel.
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.73 LAMA4 Zornitza Stark Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.72 LAMA4 Zornitza Stark Classified gene: LAMA4 as Red List (low evidence)
Dilated Cardiomyopathy v0.72 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.71 LAMA4 Zornitza Stark Tag disputed tag was added to gene: LAMA4.
Dilated Cardiomyopathy v0.71 TAZ Zornitza Stark Classified gene: TAZ as Red List (low evidence)
Dilated Cardiomyopathy v0.71 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.71 ILK Zornitza Stark Publications for gene: ILK were set to
Mendeliome v0.3692 NKX2-5 Dean Phelan reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30354339, 28690296, 25503402, 27855642; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.70 ILK Zornitza Stark Phenotypes for gene: ILK were changed from to Dilated cardiomyopathy
Dilated Cardiomyopathy v0.69 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome (MIM# 302060)
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Classified gene: TAZ as Red List (low evidence)
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.67 LAMA4 Paul De Fazio reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 17646580, 26406308, 27532257; Phenotypes: Cardiomyopathy, dilated, 1JJ (MIM#615235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Classified gene: TBX20 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Marked gene: TCAP as ready
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Added comment: Comment when marking as ready: Very limited evidence for a link with DCM, note most of the variants reported have a population frequency that is out of keeping for a rare Mendelian disorder.
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Classified gene: TCAP as Red List (low evidence)
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Marked gene: JUP as ready
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Added comment: Comment when marking as ready: Note DCM is also a feature of Naxos disease, though additional features also present.
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528); Naxos disease, MIM# 601214
Dilated Cardiomyopathy v0.64 JUP Zornitza Stark Classified gene: JUP as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.64 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.63 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.62 ILK Zornitza Stark Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.61 ILK Zornitza Stark Classified gene: ILK as Red List (low evidence)
Dilated Cardiomyopathy v0.61 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Added comment: Comment when marking as ready: No established link with DCM, but included here due to phenotypic overlap with ARVC.
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Tag SV/CNV tag was added to gene: PRDM16.
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Marked gene: PRDM16 as ready
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Added comment: Comment when marking as ready: Associated with LVNC phenotype, included here due to phenotypic overlap with DCM though the evidence for association with DCM is limited.
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Classified gene: PRDM16 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Added comment: Comment when marking as ready: Borderline number of segregations done as part of the original study.
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Classified gene: GATA6 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Marked gene: FLNC as ready
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Marked gene: FKTN as ready
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.55 FKTN Zornitza Stark Tag SV/CNV tag was added to gene: FKTN.
Dilated Cardiomyopathy v0.55 TAZ Ain Roesley reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.55 TBX20 Ain Roesley gene: TBX20 was added
gene: TBX20 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX20 were set to 26118961; 17668378; 27510170
Phenotypes for gene: TBX20 were set to Dilated cardiomyopathy
Penetrance for gene: TBX20 were set to unknown
Review for gene: TBX20 was set to AMBER
Added comment: PMID: 26118961
- 1x missense (p.(Phe256Ile)) (absent in gnomAD) in a family with 4 affecteds across 2 generations (total of 3 meiosis)

PMID: 17668378;
DCM in 2 individuals in a family with a nonsense variant (p.(Gln195*)) (absent in gnomAD)
- 1 also had mitral valve disease
- the other also had atrial septal defect and pulmonary hypertension

PMID: 27510170;
- 1x in a DCM patient (p.(Glu143*) (absent in gnomAD)
- present in 3 other affected family members across 3 generations
- proband's sister and daughter also presented with congenital atrial septal defect (ASD)
Sources: Literature
Dilated Cardiomyopathy v0.55 TCAP Ain Roesley gene: TCAP was added
gene: TCAP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCAP were set to 31303467; 15582318; 24037902
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954); Cardiomyopathy, hypertrophic, 25 (MIM# 607487)
Penetrance for gene: TCAP were set to unknown
Review for gene: TCAP was set to AMBER
Added comment: PMID: 31303467;
- 1x DCM patient with a missense classified as a VUS by ACMG scheme.
- Glu105Gln (143 hets in gnomAD)

PMID: 15582318;
- 1x DCM patient with a missense
- Glu132Gln (1 het in gnomad)

PMID: 24037902;
- 5x in DCM cohort, all missense except 1 in-frame del
gnomad counts of each variant:
- Glu13del (280 hets, 1 hom)
- Glu105Lys (28 hets)
- Arg106Cys (5095 hets, 523 homs)
- Ala118Val (80 hets, 1 hom)
- Arg158Cys (absent)
Sources: Literature
Early-onset Dementia v0.53 ATN1 Bryony Thompson Tag STR tag was added to gene: ATN1.
Dilated Cardiomyopathy v0.55 JUP Paul De Fazio gene: JUP was added
gene: JUP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528)
Review for gene: JUP was set to AMBER
gene: JUP was marked as current diagnostic
Added comment: Definitive for ARVC by ClinGen but no association with DCM that I can find. This gene is green on PanelApp GEL DCM panel due to phenotypic overlap.
Sources: Literature
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies, although 1 also had a TTN frameshift variant. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I'm not sure where this information comes from.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio reviewed gene: ILK: Rating: AMBER; Mode of pathogenicity: None; Publications: 17646580, 27886618, 25163546; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.55 TMEM43 Ain Roesley gene: TMEM43 was added
gene: TMEM43 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)
Penetrance for gene: TMEM43 were set to unknown
Review for gene: TMEM43 was set to AMBER
Added comment: Definitive for ARVC by ClinGen working group

p.(Ser358Leu) is known as the "Newfoundland" founder variant

From ClinGen:
At least 9 variants (mostly missense) have been reported. However, the pathogenicity of most of the variants is unknown. The majority of genetic evidence comes from case-level data and segregation data for one founder variant, p.(Ser358Leu), which has been reported in more than 20 families with ARVC and occurred 1x de novo (PMID:18313022;21214875;23812740; 22725725;24598986).

*no reports for isolated DCM
Sources: Literature
Dilated Cardiomyopathy v0.55 PRDM16 Naomi Baker gene: PRDM16 was added
gene: PRDM16 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688.
Phenotypes for gene: PRDM16 were set to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Review for gene: PRDM16 was set to AMBER
Added comment: Arndt et al., 2013 (PMID:23768516) identified a minimal deletion region of PRDM16 in 1p36del syndrome. Resequencing a cohort of 75 LVNC patients identified three SNV mutations (one truncation, one frameshift, one missense) and sequencing a series of cardiac biopsies from 131 individuals with DCM identified 5 individuals with 4 previously unreported nonsynonomous variants.

This publication was refuted by Leeuw & Houge 2014 (PMID: 24387995).

Deplancq et al., 2020 (PMID: 31965688) describes the first fetal case of left ventricular non‐compaction (LVNC) with a heterozygous de novo nonsense variant.
Sources: Literature
Dilated Cardiomyopathy v0.55 GATA6 Paul De Fazio gene: GATA6 was added
gene: GATA6 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 25119427; 31301121; 20705924
Phenotypes for gene: GATA6 were set to Dilated cardiomyopathy
Review for gene: GATA6 was set to AMBER
gene: GATA6 was marked as current diagnostic
Added comment: PMID 25119427: 2 Chinese DCM families from a cohort of 140 reported with missense variants in GATA6 (both variants absent from gnomAD). Variants segregated with disease. Luciferase reporter assays showed the GATA6 mutant proteins caused reduced transcriptional activation.

Other clinical reports list complex cardiac phenotypes associated with other abnormalities (especially pancreatic) (PMID: 31301121).

Combinatorial deletion of Gata4 and Gata6 from the adult heart of mice resulted in dilated cardiomyopathy and lethality by 16 weeks of age (PMID: 20705924).
Sources: Literature
Dilated Cardiomyopathy v0.55 FLNC Paul De Fazio changed review comment from: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature; to: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a much higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature
Dilated Cardiomyopathy v0.55 FLNC Paul De Fazio gene: FLNC was added
gene: FLNC was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FLNC were set to 30067491; 28008423; 31245841; 28436997; 32112656
Phenotypes for gene: FLNC were set to Dilated cardiomyopathy
Review for gene: FLNC was set to GREEN
gene: FLNC was marked as current diagnostic
Added comment: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Marked gene: ARSE as ready
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Added comment: Comment when marking as ready: Note HGNC approved name is ARSL.
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Intellectual disability syndromic and non-syndromic v0.2819 ARSE Zornitza Stark Publications for gene: ARSE were set to
Intellectual disability syndromic and non-syndromic v0.2818 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2817 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Intellectual disability syndromic and non-syndromic v0.2817 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301713; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Marked gene: ARSE as ready
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Added comment: Comment when marking as ready: Note HGNC approved name is ARSL.
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Mendeliome v0.3692 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.55 FKTN Paul De Fazio gene: FKTN was added
gene: FKTN was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 17036286; 19015585
Phenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X MIM#611615
Review for gene: FKTN was set to AMBER
gene: FKTN was marked as current diagnostic
Added comment: Total 6 families (5 Japanese) with DCM and mild proximal muscle weakness.

PMID 17036286: 4 Japanese families with dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence. The patients were chet for a 3kb retrotransposon in the FKTN 3' UTR (all patients) and a missense variant (either Gln358Pro or Arg179Thr, both absent from gnomAD). The 3kb insertion is associated with a common founder haplotype and is found in 87% of alleles causing autosomal recessive Fukuyama congenital muscular dystrophy.

PMID 19015585: 1 patient with DCM, mild muscle involvement, and no brain involvement was chet for the 3kb insertion described above and Cys101Phe (absent from gnomad). The 3kb insertion was also found heterozygous in 2 other DCM patients and 3 controls.

DOI: 10.1055/s-0036-1583659 (no PMID, only abstract available) describes 2 sibs of a consanguineous Turkish family with homozygous exon 3 deletion, who had mild, non-progressive proximal muscle weakness and DCM.
Sources: Literature
Skeletal Dysplasia_Fetal v0.24 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Skeletal Dysplasia_Fetal v0.23 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3691 ARSE Zornitza Stark Marked gene: ARSE as ready
Mendeliome v0.3691 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Mendeliome v0.3691 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Mendeliome v0.3690 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Mendeliome v0.3690 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Marked gene: ARSE as ready
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3690 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Mendeliome v0.3690 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Mendeliome v0.3690 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270
Mendeliome v0.3689 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Mendeliome v0.3688 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3687 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Mendeliome v0.3687 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Mendeliome v0.3687 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038
Mendeliome v0.3686 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Mendeliome v0.3685 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3684 TPP1 Michelle Torres reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 204500, Spinocerebellar ataxia, autosomal recessive 7 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3684 PSAT1 Elena Savva reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32077105; Phenotypes: ?Phosphoserine aminotransferase deficiency 610992, Neu-Laxova syndrome 2 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3684 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Mendeliome v0.3684 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Mendeliome v0.3684 FBXO11 Zornitza Stark Phenotypes for gene: FBXO11 were changed from to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089
Mendeliome v0.3683 FBXO11 Zornitza Stark Publications for gene: FBXO11 were set to
Mendeliome v0.3682 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3681 FBXO11 Zornitza Stark reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679813, 30057029, 29796876; Phenotypes: Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.771 FBXO11 Zornitza Stark edited their review of gene: FBXO11: Changed publications: 30679813, 30057029, 29796876
Intellectual disability syndromic and non-syndromic v0.2817 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Intellectual disability syndromic and non-syndromic v0.2817 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2817 FBXO11 Zornitza Stark Phenotypes for gene: FBXO11 were changed from to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089
Intellectual disability syndromic and non-syndromic v0.2816 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2815 FBXO11 Zornitza Stark Publications for gene: FBXO11 were set to
Intellectual disability syndromic and non-syndromic v0.2815 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2814 FBXO11 Vivian WEI reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679813, 30057029, 29796876; Phenotypes: Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.3681 FRMD7 Zornitza Stark Marked gene: FRMD7 as ready
Mendeliome v0.3681 FRMD7 Zornitza Stark Gene: frmd7 has been classified as Green List (High Evidence).
Mendeliome v0.3681 FRMD7 Zornitza Stark Phenotypes for gene: FRMD7 were changed from to Nystagmus 1, congenital, X-linked 310700; Nystagmus, infantile periodic alternating, X-linked 310700
Mendeliome v0.3680 FRMD7 Zornitza Stark Publications for gene: FRMD7 were set to
Mendeliome v0.3679 FRMD7 Zornitza Stark Mode of inheritance for gene: FRMD7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3678 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Mendeliome v0.3678 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Mendeliome v0.3678 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Mendeliome v0.3677 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Mendeliome v0.3676 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3675 FRMD7 Elena Savva reviewed gene: FRMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19072571, 23406872; Phenotypes: Nystagmus 1, congenital, X-linked 310700, Nystagmus, infantile periodic alternating, X-linked 310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.3675 AIFM1 Elena Savva reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3675 PIGQ Zornitza Stark Deleted their comment
Mendeliome v0.3675 PIGQ Zornitza Stark edited their review of gene: PIGQ: Added comment: Homozygous or compound heterozygous mutations in PIGQ cause Epileptic encephalopathy, early infantile, 77 (MIM #618548).

Johnstone et al (2020 - PMID: 32588908) describe the phenotype of 7 children (from 6 families) with biallelic PIGQ pathogenic variants. The authors also review the phenotype of 3 subjects previously reported in the literature (by Martin et al, Alazami et al, Starr et al - respective PMIDs: 24463883, 25558065, 31148362).

Affected individuals displayed severe to profound global DD/ID and seizures with onset in the first year of life. There were variable other features incl. - among others - genitourinary, cardiac, skeletal, ophthalmological anomalies, gastrointestinal issues. Within the cohort there was significant morbidity/mortality.

PIGQ encodes phosphatidylinositol glycan anchor biosynthesis class Q protein, playing a role (early) in the biosynthesis of the GPI-anchor. Several genes in the GPI biosynthesis pathway cause multi-system disease with DD/ID and seizures. Flow cytometry has been used in individuals with PIGQ-related disorder. Serum ALP was elevated in some (4) although - as the authors comment - elevations are more typical in disorders affecting later steps of GPI biosynthesis.

More than 10 variants have been reported to date (missense / pLoF).; Changed phenotypes: Epileptic encephalopathy, early infantile, 77, MIM# 618548
Mendeliome v0.3675 PIGQ Zornitza Stark Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Genetic Epilepsy v0.771 PIGQ Zornitza Stark Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Marked gene: PIGQ as ready
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Classified gene: PIGQ as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Mendeliome v0.3674 SEC61B Zornitza Stark Marked gene: SEC61B as ready
Mendeliome v0.3674 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3674 SEC61B Zornitza Stark Classified gene: SEC61B as Amber List (moderate evidence)
Mendeliome v0.3674 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3673 SEC61B Zornitza Stark gene: SEC61B was added
gene: SEC61B was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61B were set to 28862642; 30652979; 28375157
Phenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts
Review for gene: SEC61B was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Polycystic liver disease v0.23 SEC61B Zornitza Stark edited their review of gene: SEC61B: Changed publications: 28862642, 30652979, 28375157
Polycystic liver disease v0.23 SEC61B Zornitza Stark changed review comment from: Sources: Expert list; to: Two unrelated individuals reported.Sources: Expert list
Polycystic liver disease v0.23 SEC61B Zornitza Stark Publications for gene: SEC61B were set to 28862642; 30652979
Polycystic liver disease v0.22 SEC61B Zornitza Stark Marked gene: SEC61B as ready
Polycystic liver disease v0.22 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.22 SEC61B Zornitza Stark Classified gene: SEC61B as Amber List (moderate evidence)
Polycystic liver disease v0.22 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.21 SEC61B Zornitza Stark gene: SEC61B was added
gene: SEC61B was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61B were set to 28862642; 30652979
Phenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts
Review for gene: SEC61B was set to AMBER
Added comment: Sources: Expert list
Polycystic liver disease v0.20 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Polycystic liver disease v0.20 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.20 ALG9 Zornitza Stark Classified gene: ALG9 as Amber List (moderate evidence)
Polycystic liver disease v0.20 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.19 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG9 were set to 31395617; 30652979
Phenotypes for gene: ALG9 were set to Polycystic liver and kidney disease
Review for gene: ALG9 was set to AMBER
Added comment: Sources: Expert list
Polycystic liver disease v0.18 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Polycystic liver disease v0.18 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease v0.18 SEC63 Zornitza Stark Classified gene: SEC63 as Green List (high evidence)
Polycystic liver disease v0.18 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease v0.17 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)
Review for gene: SEC63 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Marked gene: PRKCSH as ready
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Classified gene: PRKCSH as Green List (high evidence)
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease v0.15 PRKCSH Zornitza Stark gene: PRKCSH was added
gene: PRKCSH was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCSH were set to 11047756; 29038287; 12529853; 12577059
Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)
Review for gene: PRKCSH was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Classified gene: PKHD1 as Green List (high evidence)
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.13 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)
Review for gene: PKHD1 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.12 PKD2 Zornitza Stark Marked gene: PKD2 as ready
Polycystic liver disease v0.12 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.12 PKD2 Zornitza Stark Classified gene: PKD2 as Green List (high evidence)
Polycystic liver disease v0.12 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.11 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD2 were set to 29321346
Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Review for gene: PKD2 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.10 PKD1 Zornitza Stark Marked gene: PKD1 as ready
Polycystic liver disease v0.10 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.10 PKD1 Zornitza Stark Classified gene: PKD1 as Green List (high evidence)
Polycystic liver disease v0.10 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.9 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD1 were set to 8554072; 3178424; 9211343
Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Review for gene: PKD1 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.8 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Polycystic liver disease v0.8 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease v0.8 LRP5 Zornitza Stark Classified gene: LRP5 as Green List (high evidence)
Polycystic liver disease v0.8 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease v0.7 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP5 were set to 25920554
Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)
Review for gene: LRP5 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.6 GANAB Zornitza Stark Marked gene: GANAB as ready
Polycystic liver disease v0.6 GANAB Zornitza Stark Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease v0.6 GANAB Zornitza Stark Classified gene: GANAB as Green List (high evidence)
Polycystic liver disease v0.6 GANAB Zornitza Stark Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease v0.5 GANAB Zornitza Stark gene: GANAB was added
gene: GANAB was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GANAB were set to 29243290; 27259053; 28862642
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)
Review for gene: GANAB was set to GREEN
Added comment: Multiple liver cysts are a feature of this condition.
Sources: Expert list
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Marked gene: DNAJB11 as ready
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Classified gene: DNAJB11 as Green List (high evidence)
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 DNAJB11 Zornitza Stark gene: DNAJB11 was added
gene: DNAJB11 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Review for gene: DNAJB11 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.2 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Polycystic liver disease v0.2 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease v0.2 ALG8 Zornitza Stark Classified gene: ALG8 as Green List (high evidence)
Polycystic liver disease v0.2 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease v0.1 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG8 were set to 28375157; 15235028
Phenotypes for gene: ALG8 were set to Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Review for gene: ALG8 was set to GREEN
gene: ALG8 was marked as current diagnostic
Added comment: Sources: Expert list
Polycystic liver disease v0.0 Zornitza Stark Added Panel Polycystic liver disease
Set panel types to: Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Hereditary Spastic Paraplegia v0.114 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.113 SPG7 Zornitza Stark edited their review of gene: SPG7: Added comment: Please note some of the dominant variants initially reported now have high population frequency in gnomad.; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3672 CHI3L1 Zornitza Stark Marked gene: CHI3L1 as ready
Mendeliome v0.3672 CHI3L1 Zornitza Stark Gene: chi3l1 has been classified as Red List (Low Evidence).
Mendeliome v0.3672 CHI3L1 Zornitza Stark Phenotypes for gene: CHI3L1 were changed from to {Asthma-related traits, susceptibility to, 7} 611960; {Schizophrenia, susceptibility to} 181500
Mendeliome v0.3671 CHI3L1 Zornitza Stark Classified gene: CHI3L1 as Red List (low evidence)
Mendeliome v0.3671 CHI3L1 Zornitza Stark Gene: chi3l1 has been classified as Red List (Low Evidence).
Mendeliome v0.3670 CHI3L1 Zornitza Stark reviewed gene: CHI3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Asthma-related traits, susceptibility to, 7} 611960, {Schizophrenia, susceptibility to} 181500; Mode of inheritance: None
Mendeliome v0.3670 CHI3L1 Chloe Stutterd reviewed gene: CHI3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3670 C3orf52 Zornitza Stark Marked gene: C3orf52 as ready
Mendeliome v0.3670 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3670 C3orf52 Zornitza Stark Classified gene: C3orf52 as Amber List (moderate evidence)
Mendeliome v0.3670 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3669 C3orf52 Zornitza Stark gene: C3orf52 was added
gene: C3orf52 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
Added comment: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Hair disorders v0.36 C3orf52 Zornitza Stark Marked gene: C3orf52 as ready
Hair disorders v0.36 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3668 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Mendeliome v0.3668 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Red List (Low Evidence).
Mendeliome v0.3668 NDUFA8 Zornitza Stark gene: NDUFA8 was added
gene: NDUFA8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures
Review for gene: NDUFA8 was set to RED
Added comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.
Sources: Literature
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark gene: NDUFA8 was added
gene: NDUFA8 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures
Review for gene: NDUFA8 was set to RED
Added comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.
Sources: Literature
Genetic Epilepsy v0.770 PIGQ Konstantinos Varvagiannis reviewed gene: PIGQ: Rating: ; Mode of pathogenicity: None; Publications: 32588908, 24463883, 25558065, 31148362; Phenotypes: Epileptic encephalopathy, early infantile, 77 (MIM #618548); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2813 PIGQ Konstantinos Varvagiannis gene: PIGQ was added
gene: PIGQ was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 32588908; 24463883; 25558065; 31148362
Phenotypes for gene: PIGQ were set to Epileptic encephalopathy, early infantile, 77 (MIM #618548)
Penetrance for gene: PIGQ were set to Complete
Review for gene: PIGQ was set to GREEN
Added comment: Homozygous or compound heterozygous mutations in PIGQ cause Epileptic encephalopathy, early infantile, 77 (MIM #618548).

Johnstone et al (2020 - PMID: 32588908) describe the phenotype of 7 children (from 6 families) with biallelic PIGQ pathogenic variants. The authors also review the phenotype of 3 subjects previously reported in the literature (by Martin et al, Alazami et al, Starr et al - respective PMIDs: 24463883, 25558065, 31148362).

Affected individuals displayed severe to profound global DD/ID and seizures with onset in the first year of life. There were variable other features incl. - among others - genitourinary, cardiac, skeletal, ophthalmological anomalies, gastrointestinal issues. Within the cohort there was significant morbidity/mortality.

PIGQ encodes phosphatidylinositol glycan anchor biosynthesis class Q protein, playing a role (early) in the biosynthesis of the GPI-anchor. Several genes in the GPI biosynthesis pathway cause multi-system disease with DD/ID and seizures. Flow cytometry has been used in individuals with PIGQ-related disorder. Serum ALP was elevated in some (4) although - as the authors comment - elevations are more typical in disorders affecting later steps of GPI biosynthesis.

More than 10 variants have been reported to date (missense / pLoF).

Overall PIGQ can be considered for green rating in both ID and epilepsy gene panels.
Sources: Literature
Hair disorders v0.36 C3orf52 Chirag Patel changed review comment from: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis.
Sources: Literature; to: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Hair disorders v0.36 C3orf52 Chirag Patel Classified gene: C3orf52 as Amber List (moderate evidence)
Hair disorders v0.36 C3orf52 Chirag Patel Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.35 C3orf52 Chirag Patel gene: C3orf52 was added
gene: C3orf52 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to PMID: 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
gene: C3orf52 was marked as current diagnostic
Added comment: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis.
Sources: Literature
Ciliopathies v0.198 DLG5 Zornitza Stark Marked gene: DLG5 as ready
Ciliopathies v0.198 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Mendeliome v0.3667 DLG5 Zornitza Stark Marked gene: DLG5 as ready
Mendeliome v0.3667 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Mendeliome v0.3667 DLG5 Zornitza Stark Classified gene: DLG5 as Green List (high evidence)
Mendeliome v0.3667 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Mendeliome v0.3666 DLG5 Zornitza Stark gene: DLG5 was added
gene: DLG5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Review for gene: DLG5 was set to GREEN
Added comment: Four unrelated families reported, supportive Xenopus animal model data.
Sources: Literature
Ciliopathies v0.198 DLG5 Zornitza Stark Classified gene: DLG5 as Green List (high evidence)
Ciliopathies v0.198 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Ciliopathies v0.197 DLG5 Zornitza Stark gene: DLG5 was added
gene: DLG5 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Review for gene: DLG5 was set to GREEN
Added comment: Four unrelated families reported, supportive Xenopus animal model data.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Marked gene: MCM8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Gene: mcm8 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Publications for gene: MCM8 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.30 MCM8 Zornitza Stark Phenotypes for gene: MCM8 were changed from to Premature ovarian failure 10, MIM# 612885
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Marked gene: SCAF4 as ready
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Classified gene: SCAF4 as Green List (high evidence)
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Marked gene: NCKAP1L as ready
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Classified gene: NCKAP1L as Green List (high evidence)
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.59 NCKAP1L Zornitza Stark gene: NCKAP1L was added
gene: NCKAP1L was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCKAP1L were set to 32647003
Phenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation
Review for gene: NCKAP1L was set to GREEN
Added comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed.
Sources: Literature
Lymphoedema v0.4 FBXL7 Zornitza Stark Marked gene: FBXL7 as ready
Lymphoedema v0.4 FBXL7 Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence).
Lymphoedema v0.4 FBXL7 Zornitza Stark gene: FBXL7 was added
gene: FBXL7 was added to Lymphoedema_syndromic. Sources: Literature
Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL7 were set to 31633297
Phenotypes for gene: FBXL7 were set to Hennekam syndrome; lymphedema
Review for gene: FBXL7 was set to RED
Added comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2813 HPDL Zornitza Stark Marked gene: HPDL as ready
Intellectual disability syndromic and non-syndromic v0.2813 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2813 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Intellectual disability syndromic and non-syndromic v0.2812 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2812 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Regression v0.129 HPDL Zornitza Stark Marked gene: HPDL as ready
Regression v0.129 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Regression v0.129 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Regression v0.128 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Regression v0.128 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.457 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Mitochondrial disease v0.456 HPDL Zornitza Stark Marked gene: HPDL as ready
Mitochondrial disease v0.456 HPDL Zornitza Stark Added comment: Comment when marking as ready: Leigh-like phenotype, HPDL has a mitochondrial localization signal and consequently localizes to mitochondria suggesting a putative role in mitochondrial metabolism.
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.456 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mendeliome v0.3665 AHR Zornitza Stark Marked gene: AHR as ready
Mendeliome v0.3665 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3665 AHR Zornitza Stark Classified gene: AHR as Amber List (moderate evidence)
Mendeliome v0.3665 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3664 M1AP Zornitza Stark Marked gene: M1AP as ready
Mendeliome v0.3664 M1AP Zornitza Stark Gene: m1ap has been classified as Green List (High Evidence).
Mendeliome v0.3664 M1AP Zornitza Stark Classified gene: M1AP as Green List (high evidence)
Mendeliome v0.3664 M1AP Zornitza Stark Gene: m1ap has been classified as Green List (High Evidence).
Mendeliome v0.3663 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability
Mendeliome v0.3662 RELN Zornitza Stark edited their review of gene: RELN: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3662 RELN Zornitza Stark changed review comment from: Well established gene-disease association with bi-allelic variants and lissencephaly.; to: Well established gene-disease association with bi-allelic variants and lissencephaly. Mono-allelic variants linked to epilepsy.
Mendeliome v0.3662 RELN Zornitza Stark edited their review of gene: RELN: Changed phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320, {Epilepsy, familial temporal lobe, 7} 616436
Mendeliome v0.3662 RELN Zornitza Stark Marked gene: RELN as ready
Mendeliome v0.3662 RELN Zornitza Stark Gene: reln has been classified as Green List (High Evidence).
Mendeliome v0.3662 RELN Zornitza Stark Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; {Epilepsy, familial temporal lobe, 7}, MIM# 616436; ankylosing spondylitis
Mendeliome v0.3661 RELN Zornitza Stark Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis
Mendeliome v0.3660 RELN Zornitza Stark Publications for gene: RELN were set to
Mendeliome v0.3659 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3658 RELN Zornitza Stark reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.21 FANCB Zornitza Stark Marked gene: FANCB as ready
Hydrocephalus_Ventriculomegaly v0.21 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.21 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B (MIM#300514)
Hydrocephalus_Ventriculomegaly v0.20 FANCB Zornitza Stark Publications for gene: FANCB were set to
Hydrocephalus_Ventriculomegaly v0.19 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.113 CALCRL Zornitza Stark Marked gene: CALCRL as ready
Hydrops fetalis v0.113 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Hydrops fetalis v0.113 CALCRL Zornitza Stark gene: CALCRL was added
gene: CALCRL was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to 30115739
Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Single family reported with several affected pregnancies.
Sources: Literature
Mendeliome v0.3658 CALCRL Zornitza Stark Marked gene: CALCRL as ready
Mendeliome v0.3658 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Mendeliome v0.3658 CALCRL Zornitza Stark Classified gene: CALCRL as Red List (low evidence)
Mendeliome v0.3658 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.34 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Arrhythmogenic Cardiomyopathy v0.34 DSG2 Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.34 DSG2 Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Arrhythmogenic Cardiomyopathy v0.33 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.32 DSG2 Zornitza Stark reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3657 CALCRL Hazel Phillimore gene: CALCRL was added
gene: CALCRL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to PMID: 30115739
Phenotypes for gene: CALCRL were set to ?Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Homozygous in-frame deletion (Val205del) in the CALCRL gene (Val205del) in a 22 week-old fetus with hydrops details due to lymphatic malformation. Consanguineous parents.
Heterozygosity of the variant was also suggested to be associated with spontaneous miscarriage and subfertility. Consanguineous family with 8 total miscarriages from 3 carrier women, and 2 of these were confirmed to be due to hydrops fetalis.
Note: possible association of a variant in ASAH1 gene that is associated with Farber lipogranulomatosis which can sometimes present with antenatal hydrops fetalis. (Homozygosity in one of the fetuses, fetus and heterozygosity in some of the family members).
In vitro biochemical assays indicated that the variant causes misfolding of the protein and reduced association with its chaperone, RAMP2, and reduced translocation to the plasma membrane. (PMID: 30115739; Mackie, DI. et al., 2018).
Sources: Literature
Arrhythmogenic Cardiomyopathy v0.31 CHD2 Zornitza Stark changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported.
Sources: Expert list; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.31 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Arrhythmogenic Cardiomyopathy v0.31 PKP2 Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.31 PKP2 Zornitza Stark Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Arrhythmogenic Cardiomyopathy v0.30 PKP2 Zornitza Stark Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.29 PKP2 Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.29 TGFB3 Zornitza Stark changed review comment from: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Gene is associated with LDS.; to: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Rated as LIMITED by ClinGen. Gene is associated with LDS.
Arrhythmogenic Cardiomyopathy v0.29 JUP Zornitza Stark reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.29 RYR2 Zornitza Stark Publications for gene: RYR2 were set to 11159936; 25041964
Arrhythmogenic Cardiomyopathy v0.28 RYR2 Zornitza Stark Tag refuted tag was added to gene: RYR2.
Arrhythmogenic Cardiomyopathy v0.28 RYR2 Zornitza Stark Classified gene: RYR2 as Red List (low evidence)
Arrhythmogenic Cardiomyopathy v0.28 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.27 RYR2 Zornitza Stark changed review comment from: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required.; to: Gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670).
Arrhythmogenic Cardiomyopathy v0.27 RYR2 Zornitza Stark edited their review of gene: RYR2: Changed rating: RED; Changed publications: 11159936, 25041964, 29543670
Arrhythmogenic Cardiomyopathy v0.27 LMNA Zornitza Stark Marked gene: LMNA as ready
Arrhythmogenic Cardiomyopathy v0.27 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.27 LMNA Zornitza Stark Classified gene: LMNA as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.27 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.26 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 22199124; 25837155; 26620845
Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A, MIM# 115200; Arrhythmogenic right ventricular cardiomyopathy
Review for gene: LMNA was set to AMBER
Added comment: Association between LMNA and ARVC has been rated as LIMITED by ClinGen: small number of families reported where only some of the individuals with the variants had convincing ARVC phenotype. Rated Amber on this panel more due to phenotypic overlap with DCM and arrhythmias arising in this context.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.25 DES Zornitza Stark Marked gene: DES as ready
Arrhythmogenic Cardiomyopathy v0.25 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.25 DES Zornitza Stark Classified gene: DES as Green List (high evidence)
Arrhythmogenic Cardiomyopathy v0.25 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.24 DES Zornitza Stark gene: DES was added
gene: DES was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DES were set to 19879535; 20423733; 24200904; 22395865; 29212896; 23168288; 20829228
Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy
Review for gene: DES was set to GREEN
Added comment: Assessed as MODERATE by ClinGen for ARVC, note phenotypes overlap DCM and skeletal myopathy. Multiple families reported, supportive in vitro studies.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.23 Zornitza Stark Panel name changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrhythmogenic Cardiomyopathy
Hydrocephalus_Ventriculomegaly v0.18 FANCB Crystle Lee reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21910217; Phenotypes: Fanconi anemia, complementation group B (MIM#300514); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3657 RELN Chern Lim reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: None; Publications: 32001840; Phenotypes: ankylosing spondylitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic Cardiomyopathy v0.22 RYR2 Zornitza Stark Classified gene: RYR2 as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.22 RYR2 Zornitza Stark Gene: ryr2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.21 RYR2 Zornitza Stark changed review comment from: Exon 3 deletion specifically associated with ARVC.; to: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required.
Arrhythmogenic Cardiomyopathy v0.21 RYR2 Zornitza Stark edited their review of gene: RYR2: Changed rating: AMBER
Mendeliome v0.3657 MORC2 Dean Phelan reviewed gene: MORC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32693025; Phenotypes: Spinal muscular atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.55 CSRP3 Zornitza Stark Marked gene: CSRP3 as ready
Dilated Cardiomyopathy v0.55 CSRP3 Zornitza Stark Gene: csrp3 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.55 CSRP3 Zornitza Stark Phenotypes for gene: CSRP3 were changed from to Cardiomyopathy, dilated, 1M MIM#607482
Mendeliome v0.3657 M1AP Ee Ming Wong gene: M1AP was added
gene: M1AP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: M1AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: M1AP were set to PMID: 32673564
Phenotypes for gene: M1AP were set to non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility
Review for gene: M1AP was set to GREEN
gene: M1AP was marked as current diagnostic
Added comment: - One frameshift variant identified in 9 infertile men either in homozygous or compound heterozygous form
- One missense variant segregated with infertility in five men from a consanguineous Turkish family
Sources: Literature
Dilated Cardiomyopathy v0.54 CSRP3 Zornitza Stark Publications for gene: CSRP3 were set to
Dilated Cardiomyopathy v0.53 CSRP3 Zornitza Stark Mode of inheritance for gene: CSRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.52 CSRP3 Zornitza Stark Classified gene: CSRP3 as Red List (low evidence)
Dilated Cardiomyopathy v0.52 CSRP3 Zornitza Stark Gene: csrp3 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.51 CSRP3 Zornitza Stark Tag disputed tag was added to gene: CSRP3.
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Marked gene: DSC2 as ready
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Added comment: Comment when marking as ready: No concrete evidence for association with DCM.
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Gene: dsc2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Classified gene: DSC2 as Red List (low evidence)
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Gene: dsc2 has been classified as Red List (Low Evidence).
Mendeliome v0.3657 AHR Chern Lim gene: AHR was added
gene: AHR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHR were set to 29726989; 31896775
Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85 MIM#618345; foveal hypoplasia and infantile nystagmus
Review for gene: AHR was set to AMBER
Added comment: - One reported homozygous splice variant in a consanguineous family & a mouse model (PMID: 29726989)

- A homozygous nonsense variant in 1 consanguineous family with foveal hypoplasia and infantile nystagmus (PMID:31896775).
Sources: Literature
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Marked gene: DOLK as ready
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Classified gene: DOLK as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.49 CRYAB Zornitza Stark Marked gene: CRYAB as ready
Dilated Cardiomyopathy v0.49 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.49 CRYAB Zornitza Stark Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, MIM#615184
Dilated Cardiomyopathy v0.48 CRYAB Zornitza Stark Publications for gene: CRYAB were set to
Dilated Cardiomyopathy v0.47 CRYAB Zornitza Stark Mode of inheritance for gene: CRYAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.46 CRYAB Zornitza Stark Classified gene: CRYAB as Red List (low evidence)
Dilated Cardiomyopathy v0.46 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Classified gene: CDH2 as Red List (low evidence)
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Marked gene: ACTN2 as ready
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Classified gene: ACTN2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.59 AHR Zornitza Stark Marked gene: AHR as ready
Retinitis pigmentosa v0.59 AHR Zornitza Stark Added comment: Comment when marking as ready: Not sure if the second reported family really has RP phenotype.
Retinitis pigmentosa v0.59 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3657 CRY1 Zornitza Stark Marked gene: CRY1 as ready
Mendeliome v0.3657 CRY1 Zornitza Stark Gene: cry1 has been classified as Green List (High Evidence).
Mendeliome v0.3657 CRY1 Zornitza Stark Classified gene: CRY1 as Green List (high evidence)
Mendeliome v0.3657 CRY1 Zornitza Stark Gene: cry1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.455 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Progressive neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mendeliome v0.3656 FBXL7 Zornitza Stark Marked gene: FBXL7 as ready
Mendeliome v0.3656 FBXL7 Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence).
Mendeliome v0.3656 FBXL7 Zornitza Stark Phenotypes for gene: FBXL7 were changed from Hennekam lymphangiectasia-lymphedema syndrome; lymphedema; protein‐losing enteropathy; dental anomalies; camptodactyly; microtia; small auditory canals; ductive hearing loss; middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. to Hennekam lymphangiectasia-lymphedema syndrome
Intellectual disability syndromic and non-syndromic v0.2811 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Progressive neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mendeliome v0.3655 FBXL7 Zornitza Stark Classified gene: FBXL7 as Red List (low evidence)
Mendeliome v0.3655 FBXL7 Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence).
Regression v0.127 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Regression. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Progressive neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mendeliome v0.3654 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Retinitis pigmentosa v0.59 AHR Chern Lim reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31896775; Phenotypes: foveal hypoplasia and infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3653 CRY1 Ee Ming Wong gene: CRY1 was added
gene: CRY1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRY1 were set to PMID: 28388406; PMID: 32538895
Phenotypes for gene: CRY1 were set to Attention deficit/hyperactivity disorder (ADHD); Delayed sleep phase disorder (DSPD),
Penetrance for gene: CRY1 were set to Incomplete
Review for gene: CRY1 was set to GREEN
gene: CRY1 was marked as current diagnostic
Added comment: - Splice variants identified in 7 families with ADHD and DSPD
- Gain of function suggested for CRY1Δ11 (PMID: 28388406)
- Loss of function suggested for CRY1Δ6 (HEK293T cells transfected with a Per1::Luc reporter plasmid showed reduced repressor activity compared to WT and CRY1Δ11)
Sources: Literature
Mendeliome v0.3653 HPDL Zornitza Stark Marked gene: HPDL as ready
Mendeliome v0.3653 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2811 PIGP Seb Lunke Publications for gene: PIGP were set to 28334793; 31139695
Mendeliome v0.3653 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Neurological disorder to Progressive neurological disorder
Intellectual disability syndromic and non-syndromic v0.2810 PIGP Seb Lunke Classified gene: PIGP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2810 PIGP Seb Lunke Gene: pigp has been classified as Green List (High Evidence).
Mendeliome v0.3652 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Mendeliome v0.3652 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2809 PIGP Seb Lunke reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3651 NCKAP1L Zornitza Stark Marked gene: NCKAP1L as ready
Mendeliome v0.3651 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Mendeliome v0.3651 PIGP Seb Lunke Publications for gene: PIGP were set to 31139695
Mendeliome v0.3651 NCKAP1L Zornitza Stark Classified gene: NCKAP1L as Green List (high evidence)
Mendeliome v0.3651 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Mendeliome v0.3650 PIGP Seb Lunke Classified gene: PIGP as Green List (high evidence)
Mendeliome v0.3650 PIGP Seb Lunke Gene: pigp has been classified as Green List (High Evidence).
Mendeliome v0.3649 MYLPF Zornitza Stark Marked gene: MYLPF as ready
Mendeliome v0.3649 MYLPF Zornitza Stark Added comment: Comment when marking as ready: Two variants each for the bi-allelic and the mono-allelic gene-disease associations.
Mendeliome v0.3649 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3649 PIGP Seb Lunke reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3649 MYLPF Zornitza Stark Classified gene: MYLPF as Amber List (moderate evidence)
Mendeliome v0.3649 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3648 FBXL7 Hazel Phillimore changed review comment from: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature; to: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature
Arthrogryposis v0.199 MYLPF Zornitza Stark Marked gene: MYLPF as ready
Arthrogryposis v0.199 MYLPF Zornitza Stark Added comment: Comment when marking as ready: Two variants each for bi-allelic and mono-allelic gene-disease association.
Arthrogryposis v0.199 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.199 MYLPF Zornitza Stark Classified gene: MYLPF as Amber List (moderate evidence)
Arthrogryposis v0.199 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.198 MYLPF Zornitza Stark Classified gene: MYLPF as Green List (high evidence)
Arthrogryposis v0.198 MYLPF Zornitza Stark Gene: mylpf has been classified as Green List (High Evidence).
Genetic Epilepsy v0.769 SCAF4 Crystle Lee gene: SCAF4 was added
gene: SCAF4 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities
Review for gene: SCAF4 was set to GREEN
Added comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2809 SCAF4 Zornitza Stark Marked gene: SCAF4 as ready
Intellectual disability syndromic and non-syndromic v0.2809 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2809 SCAF4 Zornitza Stark Classified gene: SCAF4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2809 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Mendeliome v0.3648 SCAF4 Zornitza Stark Marked gene: SCAF4 as ready
Mendeliome v0.3648 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Mendeliome v0.3648 SCAF4 Zornitza Stark Classified gene: SCAF4 as Green List (high evidence)
Mendeliome v0.3648 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Craniosynostosis v0.133 PJA1 Zornitza Stark Marked gene: PJA1 as ready
Craniosynostosis v0.133 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.133 PJA1 Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence)
Craniosynostosis v0.133 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.132 PJA1 Zornitza Stark gene: PJA1 was added
gene: PJA1 was added to Craniosynostosis. Sources: Literature
founder tags were added to gene: PJA1.
Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PJA1 were set to 32530565
Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly
Review for gene: PJA1 was set to AMBER
Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect.
Sources: Literature
Mendeliome v0.3647 FBXL7 Hazel Phillimore gene: FBXL7 was added
gene: FBXL7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL7 were set to PMID: 31633297
Phenotypes for gene: FBXL7 were set to Hennekam lymphangiectasia-lymphedema syndrome; lymphedema; protein‐losing enteropathy; dental anomalies; camptodactyly; microtia; small auditory canals; ductive hearing loss; middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Review for gene: FBXL7 was set to AMBER
Added comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature
Mendeliome v0.3647 PJA1 Zornitza Stark Marked gene: PJA1 as ready
Mendeliome v0.3647 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3647 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mendeliome v0.3647 PJA1 Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence)
Mendeliome v0.3647 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Tag founder tag was added to gene: PJA1.
Mendeliome v0.3646 PJA1 Zornitza Stark gene: PJA1 was added
gene: PJA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PJA1 were set to 32530565
Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly
Review for gene: PJA1 was set to AMBER
Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Marked gene: PJA1 as ready
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2807 PJA1 Zornitza Stark gene: PJA1 was added
gene: PJA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PJA1 were set to 32530565
Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly
Review for gene: PJA1 was set to AMBER
Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect.
Sources: Literature
Mendeliome v0.3645 MYLPF Crystle Lee gene: MYLPF was added
gene: MYLPF was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to Distal arthrogryoposis
Review for gene: MYLPF was set to GREEN
Added comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model.
Sources: Expert Review
Mendeliome v0.3645 NCKAP1L Michelle Torres gene: NCKAP1L was added
gene: NCKAP1L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCKAP1L were set to 32647003
Phenotypes for gene: NCKAP1L were set to Immunodeficiency
Review for gene: NCKAP1L was set to GREEN
Added comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional of the 4 missense reported were performed.
Sources: Literature
Genetic Epilepsy v0.769 PIGP Seb Lunke Publications for gene: PIGP were set to 28334793; 31139695
Arthrogryposis v0.197 MYLPF Crystle Lee gene: MYLPF was added
gene: MYLPF was added to Arthrogryposis. Sources: Expert Review
Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to Distal arthrogryoposis
Review for gene: MYLPF was set to GREEN
Added comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model.
Sources: Expert Review
Genetic Epilepsy v0.768 PIGP Seb Lunke Classified gene: PIGP as Green List (high evidence)
Genetic Epilepsy v0.768 PIGP Seb Lunke Gene: pigp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.767 PIGP Seb Lunke reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3645 MCF2 Zornitza Stark Marked gene: MCF2 as ready
Mendeliome v0.3645 MCF2 Zornitza Stark Gene: mcf2 has been classified as Red List (Low Evidence).
Mendeliome v0.3645 MCF2 Zornitza Stark gene: MCF2 was added
gene: MCF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MCF2 were set to 31846234
Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria
Review for gene: MCF2 was set to RED
Added comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model.
Sources: Literature
Polymicrogyria and Schizencephaly v0.90 MCF2 Zornitza Stark Marked gene: MCF2 as ready
Polymicrogyria and Schizencephaly v0.90 MCF2 Zornitza Stark Gene: mcf2 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.90 MCF2 Zornitza Stark gene: MCF2 was added
gene: MCF2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MCF2 were set to 31846234
Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria
Review for gene: MCF2 was set to RED
Added comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2806 SCAF4 Crystle Lee gene: SCAF4 was added
gene: SCAF4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities
Review for gene: SCAF4 was set to GREEN
Added comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies.
Sources: Expert Review
Mendeliome v0.3644 SCAF4 Crystle Lee gene: SCAF4 was added
gene: SCAF4 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities
Review for gene: SCAF4 was set to GREEN
Added comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies.
Sources: Expert Review
Dilated Cardiomyopathy v0.43 DSC2 Paul De Fazio gene: DSC2 was added
gene: DSC2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 21859740
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476
Review for gene: DSC2 was set to AMBER
gene: DSC2 was marked as current diagnostic
Added comment: ClinGen "Definitive" for ARVC. I can find no specific association with DCM, but this gene is green on the PanelApp GEL DCM panel for phenotypic overlap with DCM.

One VUS in DSC2 was identified in a patient who had undergone transplant for DCM (PMID: 21859740) (24 hets in gnomAD).
Sources: Literature
Dilated Cardiomyopathy v0.43 DOLK Paul De Fazio gene: DOLK was added
gene: DOLK was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 31741824; 28816422; 24144945; 22242004
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im MIM#610768
Review for gene: DOLK was set to AMBER
gene: DOLK was marked as current diagnostic
Added comment: Not curated by ClinGen.

This is a CDG gene. Patients may present with DCM (among other phenotypes).

PMID 22242004 describes 11 young (5-13) patients with "predominantly nonsyndromic presentation of DCM".
Sources: Literature
Dilated Cardiomyopathy v0.43 CSRP3 Paul De Fazio reviewed gene: CSRP3: Rating: RED; Mode of pathogenicity: None; Publications: 12507422, 14567970, 19412328; Phenotypes: ?Cardiomyopathy, dilated, 1M MIM#607482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.43 CRYAB Paul De Fazio changed review comment from: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger).

3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM.

PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort)
PMID 16793013: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN.
PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM.
PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study)

Amber in PanelApp GEL

I don't think there's sufficient evidence for an association with DCM so I am marking this red.; to: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger).

3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM.

PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort) (253 hets in gnomAD)
PMID 16483541: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN (18 hets in gnomad).
PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM.
PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study)

Amber in PanelApp GEL

I don't think there's sufficient evidence for an association with DCM so I am marking this red.
Dilated Cardiomyopathy v0.43 CRYAB Paul De Fazio reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: None; Publications: 16793013, 16483541, 23590293, 29253866; Phenotypes: Cardiomyopathy, dilated, 1II MIM#615184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.43 CDH2 Paul De Fazio changed review comment from: Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature; to: Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of DCM in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature
Dilated Cardiomyopathy v0.43 CDH2 Paul De Fazio gene: CDH2 was added
gene: CDH2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 28280076; 15662031
Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920
Review for gene: CDH2 was set to RED
gene: CDH2 was marked as current diagnostic
Added comment: Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature
Dilated Cardiomyopathy v0.43 ACTN2 Paul De Fazio gene: ACTN2 was added
gene: ACTN2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTN2 were set to 20474083; 25224718; 22253474; 14567970:
Phenotypes for gene: ACTN2 were set to Intrinsic cardiomyopathy
Review for gene: ACTN2 was set to AMBER
gene: ACTN2 was marked as current diagnostic
Added comment: Moderate evidence for "intrinsic cardiomyopathy" according to ClinGen. Associated with both HCM and DCM (same MIM# for both).

According to ClinGen; 12 unique heterozygous variants have been identified in the context of diverse cardiac phenotypes (HCM, DCM, LVNC, ventricular fibrillation).

In DCM:
PMID 20474083: 3 "variants of likely clinical significance" and 1 VUS, cohort study
PMID 14567970: missense variant in a child who died of DCM
PMID 25224718: 2 families with the same missense variant (same haplotype)

Rescues a DCM phenotype in Zebrafish (PMID: 22253474).

Green on PanelApp GEL but did not achieve consensus Green rating. Amber on PanelApp Aus HCM panel.
Sources: Literature
Hereditary Neuropathy v0.77 NARS Zornitza Stark Marked gene: NARS as ready
Hereditary Neuropathy v0.77 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.77 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Hereditary Neuropathy v0.77 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.76 NARS Zornitza Stark gene: NARS was added
gene: NARS was added to Hereditary Neuropathy - complex. Sources: Literature
new gene name tags were added to gene: NARS.
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).
Sources: Literature
Mendeliome v0.3644 NARS Zornitza Stark Marked gene: NARS as ready
Mendeliome v0.3644 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Mendeliome v0.3644 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Mendeliome v0.3644 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Mendeliome v0.3643 NARS Zornitza Stark gene: NARS was added
gene: NARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).
Sources: Literature
Genetic Epilepsy v0.767 NARS Zornitza Stark Marked gene: NARS as ready
Genetic Epilepsy v0.767 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.767 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Genetic Epilepsy v0.767 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.766 NARS Zornitza Stark Tag new gene name tag was added to gene: NARS.
Intellectual disability syndromic and non-syndromic v0.2806 NARS Zornitza Stark Marked gene: NARS as ready
Intellectual disability syndromic and non-syndromic v0.2806 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2806 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2806 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2805 NARS Zornitza Stark Tag new gene name tag was added to gene: NARS.
Intellectual disability syndromic and non-syndromic v0.2805 NARS Konstantinos Varvagiannis changed review comment from: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature; to: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature
Genetic Epilepsy v0.766 NARS Konstantinos Varvagiannis changed review comment from: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature; to: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature
Genetic Epilepsy v0.766 NARS Konstantinos Varvagiannis gene: NARS was added
gene: NARS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Penetrance for gene: NARS were set to Complete
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2805 NARS Konstantinos Varvagiannis gene: NARS was added
gene: NARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Penetrance for gene: NARS were set to Complete
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature
Mendeliome v0.3642 ZNF407 Zornitza Stark Marked gene: ZNF407 as ready
Mendeliome v0.3642 ZNF407 Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3642 ZNF407 Zornitza Stark Phenotypes for gene: ZNF407 were changed from to Global developmental delay; Intellectual disability
Mendeliome v0.3641 ZNF407 Zornitza Stark Publications for gene: ZNF407 were set to
Mendeliome v0.3640 ZNF407 Zornitza Stark Mode of inheritance for gene: ZNF407 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3639 ZNF407 Zornitza Stark Classified gene: ZNF407 as Amber List (moderate evidence)
Mendeliome v0.3639 ZNF407 Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3638 ZNF407 Zornitza Stark reviewed gene: ZNF407: Rating: AMBER; Mode of pathogenicity: None; Publications: 24907849, 32737394, 23195952; Phenotypes: Global developmental delay, Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Marked gene: ZNF407 as ready
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Added comment: Comment when marking as ready: Evidence both for mono allelic and bi-allelic disease, though neither sufficient for Green rating at present.
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Classified gene: ZNF407 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2804 ZNF407 Konstantinos Varvagiannis gene: ZNF407 was added
gene: ZNF407 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZNF407 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ZNF407 were set to 24907849; 32737394; 23195952
Phenotypes for gene: ZNF407 were set to Global developmental delay; Intellectual disability
Penetrance for gene: ZNF407 were set to unknown
Review for gene: ZNF407 was set to AMBER
Added comment: You may consider inclusion of this gene probably with amber rating (or green if the evidence for biallelic variants is considered sufficient).

Biallelic variants:

- Kambouris et al. (2014 - PMID: 24907849) described 2 brothers with severe DD and ID, born to first cousin parents. Homozygosity mapping, following other non-diagnostic investigations (incl. aCGH), revealed 4 major homozygosity intervals. Exome sequencing in one identified 5 variants within these intervals, ZNF407 (c.5054C>G, p.Ser1685Trp) being the best candidate, supported also by segregation studies. The authors commented that zinc finger proteins act as transcriptional regulators, with mutations in genes encoding for other zinc finger proteins interfering with normal brain development.

- Zahra et al. (2020 - PMID: 32737394) report on 7 affected individuals (from 3 families) homozygous or compound heterozygous for ZNF407 variants. Features included hypotonia, DD and ID (in all) and variable occurrence of short stature (6/6), microcephaly (in at least 5), behavioural, visual problems and deafness. Linkage analysis in the first family revealed a 4.4 Mb shared homozygosity region and exome (30x) revealed a 3-bp duplication, confirmed by Sanger sequencing and segregating with the disease (NM_001146189:c.2814_2816dup, p.Val939dup). Affected subjects from the 2 other families were each found to be homozygous (c.2405G>T) or compound heterozygous (c.2884C>G, c.3642G>C) for other variants. Segregation was compatible in all families. Other studies were not performed. The authors comment than only the 3-bp duplication fullfilled ACMG criteria for classification as LP, the other variants being all formally classified as VUS (also due to in silico predictions predicting a LB effect). In addition, while several features such as DD/ID and short stature appeared to be frequent among all patients reported, Zahra et all comment that there was partial clinical overlap with the sibs described by Kambouris et al (additional variants?).


Monoallelic disruption of ZNF407:

- Ren et al (2013 - PMID: 23195952) described an 8 y.o. boy with ID and ASD. The boy was found to harbor a de novo translocation between chromosomes 3 and 18 [46,XY,t(3;18)(p13;q22.3)]. Array CGH did not reveal any P/LP CNV. Delineation of the breakpoints (FISH, long-range PCR) revealed that the chr18 breakpoint disrupted intron 3 of ZNF407 (isoform 1) with the other breakpoint within a gene-free region of exon 3. There was a loss of 4-8 nt in chr18 and 2-6 in chr3. Sequencing of ZNF407 did not reveal additional variants. RNA isolation in blood followed by RT-PCR studied expression of all 3 ZNF407 isoforms (the intronic region being shared by isoforms 1 and 2). Expression of isoform 1 was shown to be significantly reduced compared to controls. Isoform 2 was undetectable (in blood) while isoform 3 expression was similar to controls. Sequencing of 105 additional patients with similar clinical presentation (ID & ASD) revealed 2 further individuals with de novo missense variants.

- Based on the discussion by Kambouris et al (PMID: 24907849 - cited literature not here reviewed) ZNF407 may be deleted in patients with congenital aural atresia due to deletion of a critical region of 18q22.3 (though TSHZ1 is responsible for this phenotype) or 18q- although such deletions span several other genes (cited PMID: 16639285). In one case the breakpoint was shown to be disrupting ZNF407 (cited PMID: 24092497).

- The denovo db and Decipher (research variant tab) list few individuals with de novo ZNF407 SNVs although these do not seem to allow conclusions.

https://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=ZNF407
https://decipher.sanger.ac.uk/search/ddd-research-variants/results?q=znf407
Sources: Literature
Glaucoma congenital v0.46 OCRL Zornitza Stark Marked gene: OCRL as ready
Glaucoma congenital v0.46 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Glaucoma congenital v0.46 OCRL Zornitza Stark Classified gene: OCRL as Green List (high evidence)
Glaucoma congenital v0.46 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Glaucoma congenital v0.45 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, MIM# 309000
Review for gene: OCRL was set to GREEN
Added comment: Glaucoma present in ~50%, GeneReviews.
Sources: Expert list
Glaucoma congenital v0.44 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Glaucoma congenital v0.44 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.44 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Glaucoma congenital v0.44 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.43 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, MIM# 182250
Review for gene: IFIH1 was set to GREEN
Added comment: Glaucoma is a feature of this condition.
Sources: Expert list
Mendeliome v0.3638 DDX58 Zornitza Stark Marked gene: DDX58 as ready
Mendeliome v0.3638 DDX58 Zornitza Stark Gene: ddx58 has been classified as Green List (High Evidence).
Mendeliome v0.3638 DDX58 Zornitza Stark Phenotypes for gene: DDX58 were changed from to Singleton-Merten syndrome 2, MIM# 616298
Mendeliome v0.3637 DDX58 Zornitza Stark Publications for gene: DDX58 were set to
Mendeliome v0.3636 DDX58 Zornitza Stark Mode of inheritance for gene: DDX58 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3635 DDX58 Zornitza Stark changed review comment from: Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies.; to: Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. At least 3 families reported.
Mendeliome v0.3635 DDX58 Zornitza Stark reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620203; Phenotypes: Singleton-Merten syndrome 2, MIM# 616298; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.42 DDX58 Zornitza Stark Marked gene: DDX58 as ready
Glaucoma congenital v0.42 DDX58 Zornitza Stark Gene: ddx58 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.42 DDX58 Zornitza Stark Classified gene: DDX58 as Amber List (moderate evidence)
Glaucoma congenital v0.42 DDX58 Zornitza Stark Gene: ddx58 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.41 DDX58 Zornitza Stark gene: DDX58 was added
gene: DDX58 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX58 were set to 25620203
Phenotypes for gene: DDX58 were set to Singleton-Merten syndrome 2, MIM# 616298
Review for gene: DDX58 was set to AMBER
Added comment: At least two families reported where glaucoma was a feature of the presenting phenotype.
Sources: Expert list
Glaucoma congenital v0.40 TEK Zornitza Stark Phenotypes for gene: TEK were changed from to Glaucoma 3, primary congenital, E, MIM# 617272
Glaucoma congenital v0.39 TEK Zornitza Stark Publications for gene: TEK were set to
Glaucoma congenital v0.38 TEK Zornitza Stark Mode of inheritance for gene: TEK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.37 TEK Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27270174; Phenotypes: Glaucoma 3, primary congenital, E, MIM# 617272; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.37 SH3PXD2B Zornitza Stark Marked gene: SH3PXD2B as ready
Glaucoma congenital v0.37 SH3PXD2B Zornitza Stark Gene: sh3pxd2b has been classified as Green List (High Evidence).
Glaucoma congenital v0.37 SH3PXD2B Zornitza Stark Phenotypes for gene: SH3PXD2B were changed from to Frank-ter Haar syndrome, MIM# 249420
Glaucoma congenital v0.36 SH3PXD2B Zornitza Stark Mode of inheritance for gene: SH3PXD2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.35 SH3PXD2B Zornitza Stark reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.35 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Glaucoma congenital v0.35 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Glaucoma congenital v0.35 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from to Charcot-Marie-Tooth disease, type 4B2, MIM# 604563
Glaucoma congenital v0.34 SBF2 Zornitza Stark Publications for gene: SBF2 were set to
Glaucoma congenital v0.33 SBF2 Zornitza Stark Mode of inheritance for gene: SBF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.32 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12687498, 15304601; Phenotypes: Charcot-Marie-Tooth disease, type 4B2, MIM# 604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.32 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Glaucoma congenital v0.32 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.32 POMGNT1 Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence)
Glaucoma congenital v0.32 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.31 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280
Review for gene: POMGNT1 was set to GREEN
Added comment: Glaucoma is part of the ocular phenotype.
Sources: Expert list
Glaucoma congenital v0.30 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Glaucoma congenital v0.30 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.30 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Glaucoma congenital v0.29 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.28 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.28 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Glaucoma congenital v0.28 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.28 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880
Glaucoma congenital v0.27 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.26 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM# 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.26 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Glaucoma congenital v0.26 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Glaucoma congenital v0.26 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229
Glaucoma congenital v0.25 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.24 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.24 MFRP Zornitza Stark Marked gene: MFRP as ready
Glaucoma congenital v0.24 MFRP Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.24 MFRP Zornitza Stark Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040
Glaucoma congenital v0.23 MFRP Zornitza Stark Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.22 MFRP Zornitza Stark Classified gene: MFRP as Amber List (moderate evidence)
Glaucoma congenital v0.22 MFRP Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.21 MFRP Zornitza Stark reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.21 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Glaucoma congenital v0.21 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.21 FOXE3 Zornitza Stark Classified gene: FOXE3 as Amber List (moderate evidence)
Glaucoma congenital v0.21 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.20 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXE3 were set to 27218149
Phenotypes for gene: FOXE3 were set to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Review for gene: FOXE3 was set to AMBER
Added comment: Complex eye phenotype, glaucoma described in at least one family.
Sources: Expert list
Glaucoma congenital v0.19 FBN1 Zornitza Stark Classified gene: FBN1 as Amber List (moderate evidence)
Glaucoma congenital v0.19 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.18 FBN1 Zornitza Stark changed review comment from: Glaucoma is part of the phenotype.; to: Few families reported with WMS phenotype, limited reports of glaucoma.
Glaucoma congenital v0.18 FBN1 Zornitza Stark edited their review of gene: FBN1: Changed rating: AMBER
Glaucoma congenital v0.18 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Glaucoma congenital v0.18 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.18 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Weill-Marchesani syndrome 2, dominant, MIM# 608328
Glaucoma congenital v0.17 FBN1 Zornitza Stark Publications for gene: FBN1 were set to
Glaucoma congenital v0.16 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.15 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 2, dominant, MIM# 608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.15 EP300 Zornitza Stark Marked gene: EP300 as ready
Glaucoma congenital v0.15 EP300 Zornitza Stark Gene: ep300 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.15 EP300 Zornitza Stark Phenotypes for gene: EP300 were changed from to Rubinstein-Taybi syndrome 2, MIM# 613684
Glaucoma congenital v0.14 EP300 Zornitza Stark Mode of inheritance for gene: EP300 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.13 EP300 Zornitza Stark Classified gene: EP300 as Amber List (moderate evidence)
Glaucoma congenital v0.13 EP300 Zornitza Stark Gene: ep300 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.12 EP300 Zornitza Stark reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.12 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Glaucoma congenital v0.12 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Glaucoma congenital v0.12 CREBBP Zornitza Stark Phenotypes for gene: CREBBP were changed from to Rubinstein-Taybi syndrome 1, MIM# 180849
Glaucoma congenital v0.11 CREBBP Zornitza Stark Mode of inheritance for gene: CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.10 CREBBP Zornitza Stark reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.10 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Glaucoma congenital v0.10 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Glaucoma congenital v0.10 CPAMD8 Zornitza Stark Classified gene: CPAMD8 as Green List (high evidence)
Glaucoma congenital v0.10 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Glaucoma congenital v0.9 CPAMD8 Zornitza Stark gene: CPAMD8 was added
gene: CPAMD8 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPAMD8 were set to 29556725
Phenotypes for gene: CPAMD8 were set to Anterior segment dysgenesis 8, MIM# 617319
Review for gene: CPAMD8 was set to GREEN
Added comment: Anterior segment dysgenesis, glaucoma specifically reported in 8 families.
Sources: Expert list
Glaucoma congenital v0.8 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Glaucoma congenital v0.8 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.8 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM# 175780
Glaucoma congenital v0.7 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.6 COL4A1 Zornitza Stark Classified gene: COL4A1 as Amber List (moderate evidence)
Glaucoma congenital v0.6 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.5 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.5 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Glaucoma congenital v0.5 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Glaucoma congenital v0.5 ADAMTS17 Zornitza Stark Classified gene: ADAMTS17 as Green List (high evidence)
Glaucoma congenital v0.5 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Glaucoma congenital v0.4 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Review for gene: ADAMTS17 was set to GREEN
Added comment: Complex eye phenotype associated with this syndrome, including glaucoma.
Sources: Expert list
Glaucoma congenital v0.3 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Glaucoma congenital v0.3 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Glaucoma congenital v0.3 ADAMTS10 Zornitza Stark Classified gene: ADAMTS10 as Green List (high evidence)
Glaucoma congenital v0.3 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Glaucoma congenital v0.2 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, MIM# 277600
Review for gene: ADAMTS10 was set to GREEN
Added comment: Well established gene-disease association with Weill-Marchesani syndrome, a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma (present in ~75%), and, occasionally, heart defects.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.21 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Arrhythmogenic Cardiomyopathy v0.21 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.21 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
Arrhythmogenic Cardiomyopathy v0.20 TGFB3 Zornitza Stark Publications for gene: TGFB3 were set to
Arrhythmogenic Cardiomyopathy v0.19 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.18 TGFB3 Zornitza Stark Classified gene: TGFB3 as Red List (low evidence)
Arrhythmogenic Cardiomyopathy v0.18 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.17 TGFB3 Zornitza Stark Tag 5'UTR tag was added to gene: TGFB3.
Arrhythmogenic Cardiomyopathy v0.17 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: 15639475; Phenotypes: Arrhythmogenic right ventricular dysplasia 1, MIM# 107970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.17 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Arrhythmogenic Cardiomyopathy v0.17 RYR2 Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.17 RYR2 Zornitza Stark Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
Arrhythmogenic Cardiomyopathy v0.16 RYR2 Zornitza Stark Publications for gene: RYR2 were set to
Arrhythmogenic Cardiomyopathy v0.15 RYR2 Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.14 RYR2 Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159936, 25041964; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Marked gene: PLN as ready
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Tag founder tag was added to gene: PLN.
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Classified gene: PLN as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.13 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLN were set to 22820313
Phenotypes for gene: PLN were set to Arrhythmogenic right ventricular cardiomyopathy
Review for gene: PLN was set to AMBER
Added comment: One specific Dutch founder variant in this gene is associated with ARVC: R14del. Gene is otherwise predominantly associated with cardiomyopathy.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.12 FLNC Zornitza Stark Marked gene: FLNC as ready
Arrhythmogenic Cardiomyopathy v0.12 FLNC Zornitza Stark Gene: flnc has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.12 FLNC Zornitza Stark Classified gene: FLNC as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.12 FLNC Zornitza Stark Gene: flnc has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.11 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to 31924696
Phenotypes for gene: FLNC were set to Arrhythmogenic right ventricular cardiomyopathy
Review for gene: FLNC was set to AMBER
Added comment: Two families reported with truncating variants in this gene and ARVC. Gene is also associated with cardiomyopathy.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.10 CHD2 Zornitza Stark Classified gene: CHD2 as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.10 CHD2 Zornitza Stark Gene: chd2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.9 CHD2 Zornitza Stark edited their review of gene: CHD2: Changed rating: AMBER
Mendeliome v0.3635 IVNS1ABP Zornitza Stark Marked gene: IVNS1ABP as ready
Mendeliome v0.3635 IVNS1ABP Zornitza Stark Gene: ivns1abp has been classified as Green List (High Evidence).
Mendeliome v0.3635 IVNS1ABP Zornitza Stark Phenotypes for gene: IVNS1ABP were changed from Primary immunodeficiency to Immunodeficiency 70, MIM#618969
Mendeliome v0.3634 IVNS1ABP Zornitza Stark reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.162 IVNS1ABP Zornitza Stark Phenotypes for gene: IVNS1ABP were changed from Primary immunodeficiency to Immunodeficiency 70, MIM#618969
Combined Immunodeficiency v0.161 IVNS1ABP Zornitza Stark reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3634 IFNG Zornitza Stark Phenotypes for gene: IFNG were changed from Mendelian susceptibility to mycobacterial disease to Mendelian susceptibility to mycobacterial disease; Immunodeficiency 69, MIM#618963
Mendeliome v0.3633 IFNG Zornitza Stark edited their review of gene: IFNG: Changed phenotypes: Mendelian susceptibility to mycobacterial disease, Immunodeficiency 69, MIM#618963
Arthrogryposis v0.197 TOR1A Zornitza Stark Phenotypes for gene: TOR1A were changed from Arthrogryposis to Arthrogryposis multiplex congenita, MIM#618947
Arthrogryposis v0.196 TOR1A Zornitza Stark reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, MIM#618947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3633 SYNE2 Zornitza Stark Tag disputed tag was added to gene: SYNE2.
Arthrogryposis v0.195 MED12 Zornitza Stark Marked gene: MED12 as ready
Arthrogryposis v0.195 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Arthrogryposis v0.195 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to MED12-related disorders
Arthrogryposis v0.194 MED12 Zornitza Stark Publications for gene: MED12 were set to
Arthrogryposis v0.193 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.192 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Arthrogryposis v0.192 TRIP4 Zornitza Stark Gene: trip4 has been classified as Green List (High Evidence).
Arthrogryposis v0.192 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Arthrogryposis v0.191 TRIP4 Zornitza Stark Publications for gene: TRIP4 were set to
Arthrogryposis v0.190 TRIP4 Zornitza Stark Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Alagille syndrome v0.5 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Alagille syndrome v0.5 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Alagille syndrome v0.5 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2, MIM# 610205
Alagille syndrome v0.4 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2, MIM# 610205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alagille syndrome v0.4 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Alagille syndrome v0.4 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Alagille syndrome v0.4 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from to Alagille syndrome, MIM# 1 118450
Alagille syndrome v0.3 JAG1 Zornitza Stark reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome, MIM# 1 118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.82 SDHD Zornitza Stark Marked gene: SDHD as ready
Cancer Predisposition_Paediatric v0.82 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.82 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300
Cancer Predisposition_Paediatric v0.81 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.80 SDHD Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000, Pheochromocytoma, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.80 SDHC Zornitza Stark Marked gene: SDHC as ready
Cancer Predisposition_Paediatric v0.80 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.80 SDHC Zornitza Stark Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373
Cancer Predisposition_Paediatric v0.79 SDHC Zornitza Stark Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.78 SDHC Zornitza Stark reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 3, MIM# 605373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.78 SDHB Zornitza Stark Marked gene: SDHB as ready
Cancer Predisposition_Paediatric v0.78 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.78 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310
Cancer Predisposition_Paediatric v0.77 SDHB Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.76 SDHB Zornitza Stark reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 4, MIM# 115310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.76 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Cancer Predisposition_Paediatric v0.76 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.76 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650
Cancer Predisposition_Paediatric v0.75 SDHAF2 Zornitza Stark Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.74 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.74 SDHA Zornitza Stark Marked gene: SDHA as ready
Cancer Predisposition_Paediatric v0.74 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.74 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Paragangliomas 5, MIM# 614165
Cancer Predisposition_Paediatric v0.73 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.72 SDHA Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 5, MIM# 614165; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.72 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Cancer Predisposition_Paediatric v0.72 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.72 RUNX1 Zornitza Stark Phenotypes for gene: RUNX1 were changed from to Leukemia, acute myeloid, MIM# 601626
Cancer Predisposition_Paediatric v0.71 RUNX1 Zornitza Stark Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.70 RUNX1 Zornitza Stark reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.70 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Cancer Predisposition_Paediatric v0.70 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.70 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Cancer Predisposition_Paediatric v0.69 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Cancer Predisposition_Paediatric v0.68 TRIP13 Zornitza Stark Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.67 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN
Cancer Predisposition_Paediatric v0.67 TRIP13 Zornitza Stark reviewed gene: TRIP13: Rating: ; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.67 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Cancer Predisposition_Paediatric v0.67 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.67 TMEM127 Zornitza Stark Phenotypes for gene: TMEM127 were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
Cancer Predisposition_Paediatric v0.66 TMEM127 Zornitza Stark Mode of inheritance for gene: TMEM127 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.65 TMEM127 Zornitza Stark Classified gene: TMEM127 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.65 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.64 TMEM127 Zornitza Stark reviewed gene: TMEM127: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.64 RAD51C Zornitza Stark Classified gene: RAD51C as Red List (low evidence)
Cancer Predisposition_Paediatric v0.64 RAD51C Zornitza Stark Gene: rad51c has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark changed review comment from: Two families reported, paediatric tumour risk to be established.; to: Two families reported with congenital anomalies only, paediatric tumour risk to be established.
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark edited their review of gene: RAD51C: Changed rating: RED
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark Gene: rad51c has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Cancer Predisposition_Paediatric v0.62 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Cancer Predisposition_Paediatric v0.61 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.60 RAD51C Zornitza Stark Classified gene: RAD51C as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.60 RAD51C Zornitza Stark Gene: rad51c has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.59 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.59 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Cancer Predisposition_Paediatric v0.59 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.59 MUTYH Zornitza Stark Phenotypes for gene: MUTYH were changed from to Adenomas, multiple colorectal, MIM# 608456
Cancer Predisposition_Paediatric v0.58 MUTYH Zornitza Stark Mode of inheritance for gene: MUTYH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.58 MUTYH Zornitza Stark Mode of inheritance for gene: MUTYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.57 MUTYH Zornitza Stark Classified gene: MUTYH as Red List (low evidence)
Cancer Predisposition_Paediatric v0.57 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.56 MUTYH Zornitza Stark reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomas, multiple colorectal, MIM# 608456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark edited their review of gene: MAX: Changed rating: RED
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark Marked gene: MAX as ready
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark Phenotypes for gene: MAX were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
Cancer Predisposition_Paediatric v0.55 MAX Zornitza Stark Publications for gene: MAX were set to
Cancer Predisposition_Paediatric v0.54 MAX Zornitza Stark Mode of inheritance for gene: MAX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.53 MAX Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21685915; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.53 HRAS Zornitza Stark Marked gene: HRAS as ready
Cancer Predisposition_Paediatric v0.53 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.53 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from to Costello syndrome, MIM# 218040
Cancer Predisposition_Paediatric v0.52 HRAS Zornitza Stark Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.51 HRAS Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.51 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Cancer Predisposition_Paediatric v0.51 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.51 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from to {Leukemia, acute myeloid, susceptibility to}, MIM# 601626
Cancer Predisposition_Paediatric v0.50 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.49 GATA2 Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Leukemia, acute myeloid, susceptibility to}, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.49 FH Zornitza Stark Marked gene: FH as ready
Cancer Predisposition_Paediatric v0.49 FH Zornitza Stark Gene: fh has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.49 FH Zornitza Stark Phenotypes for gene: FH were changed from to Leiomyomatosis and renal cell cancer, MIM# 150800
Cancer Predisposition_Paediatric v0.48 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.47 FH Zornitza Stark Classified gene: FH as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.47 FH Zornitza Stark Gene: fh has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.46 FH Zornitza Stark reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leiomyomatosis and renal cell cancer, MIM# 150800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.46 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Cancer Predisposition_Paediatric v0.46 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.46 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244
Cancer Predisposition_Paediatric v0.45 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.44 EPCAM Zornitza Stark Classified gene: EPCAM as Red List (low evidence)
Cancer Predisposition_Paediatric v0.44 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.43 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Classified gene: DIS3L2 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.42 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Cancer Predisposition_Paediatric. Sources: Expert list
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, MIM# 267000
Review for gene: DIS3L2 was set to GREEN
Added comment: Increased risk of Wilms tumour.
Sources: Expert list
Cancer Predisposition_Paediatric v0.41 CEBPA Zornitza Stark Marked gene: CEBPA as ready
Cancer Predisposition_Paediatric v0.41 CEBPA Zornitza Stark Gene: cebpa has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.41 CEBPA Zornitza Stark Phenotypes for gene: CEBPA were changed from to Leukemia, acute myeloid, MIM# 601626
Cancer Predisposition_Paediatric v0.40 CEBPA Zornitza Stark Publications for gene: CEBPA were set to
Cancer Predisposition_Paediatric v0.39 CEBPA Zornitza Stark Mode of inheritance for gene: CEBPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.38 CEBPA Zornitza Stark reviewed gene: CEBPA: Rating: ; Mode of pathogenicity: None; Publications: 15575056, 32430494, 31309983; Phenotypes: Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.38 CDKN2A Zornitza Stark Marked gene: CDKN2A as ready
Cancer Predisposition_Paediatric v0.38 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.38 CDKN2A Zornitza Stark Phenotypes for gene: CDKN2A were changed from to Familial Malignant Melanoma and Tumors of the Nervous system; Familial Uveal Melanoma; Pancreatic cancer
Cancer Predisposition_Paediatric v0.37 CDKN2A Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.36 CDKN2A Zornitza Stark Classified gene: CDKN2A as Red List (low evidence)
Cancer Predisposition_Paediatric v0.36 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.35 CDKN2A Zornitza Stark reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma, Pancreatic cancer; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.35 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Cancer Predisposition_Paediatric v0.35 CDK4 Zornitza Stark Gene: cdk4 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.35 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from to {Melanoma, cutaneous malignant, 3}, MIM# 609048
Cancer Predisposition_Paediatric v0.34 CDK4 Zornitza Stark Mode of inheritance for gene: CDK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.33 CDK4 Zornitza Stark Classified gene: CDK4 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.33 CDK4 Zornitza Stark Gene: cdk4 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.32 CDK4 Zornitza Stark reviewed gene: CDK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 3}, MIM# 609048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.32 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Cancer Predisposition_Paediatric v0.32 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.32 CDH1 Zornitza Stark Phenotypes for gene: CDH1 were changed from to Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215
Cancer Predisposition_Paediatric v0.31 CDH1 Zornitza Stark Mode of inheritance for gene: CDH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.30 CDH1 Zornitza Stark reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.30 CDC73 Zornitza Stark Marked gene: CDC73 as ready
Cancer Predisposition_Paediatric v0.30 CDC73 Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.30 CDC73 Zornitza Stark Phenotypes for gene: CDC73 were changed from to Parathyroid carcinoma, MIM# 608266
Cancer Predisposition_Paediatric v0.29 CDC73 Zornitza Stark Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.28 CDC73 Zornitza Stark Classified gene: CDC73 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.28 CDC73 Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.27 CDC73 Zornitza Stark reviewed gene: CDC73: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parathyroid carcinoma, MIM# 608266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Classified gene: BUB1B as Green List (high evidence)
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.26 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Cancer Predisposition_Paediatric. Sources: Expert list
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1B were set to 31081598; 31053147
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Review for gene: BUB1B was set to GREEN
Added comment: Syndrome with increased tumour risk: Wilms tumor, nephroblastoma, rhabdomyosarcoma, leukaemia.
Sources: Expert list
Mendeliome v0.3633 Zornitza Stark removed gene:BAP1 from the panel
Incidentalome v0.33 BAP1 Zornitza Stark Marked gene: BAP1 as ready
Incidentalome v0.33 BAP1 Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence).
Incidentalome v0.33 BAP1 Zornitza Stark Classified gene: BAP1 as Green List (high evidence)
Incidentalome v0.33 BAP1 Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence).
Incidentalome v0.32 BAP1 Zornitza Stark gene: BAP1 was added
gene: BAP1 was added to Incidentalome. Sources: Expert list
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAP1 were set to 21941004; 23684012; 21874000; 21874003
Phenotypes for gene: BAP1 were set to Tumor predisposition syndrome, MIM# 614327
Review for gene: BAP1 was set to GREEN
Added comment: Generally adult onset, high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma
Sources: Expert list
Cancer Predisposition_Paediatric v0.25 BAP1 Zornitza Stark Marked gene: BAP1 as ready
Cancer Predisposition_Paediatric v0.25 BAP1 Zornitza Stark Gene: bap1 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.25 BAP1 Zornitza Stark Phenotypes for gene: BAP1 were changed from to Tumor predisposition syndrome, MIM# 614327
Cancer Predisposition_Paediatric v0.24 BAP1 Zornitza Stark Publications for gene: BAP1 were set to
Cancer Predisposition_Paediatric v0.23 BAP1 Zornitza Stark Mode of inheritance for gene: BAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.22 BAP1 Zornitza Stark Classified gene: BAP1 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.22 BAP1 Zornitza Stark Gene: bap1 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.21 BAP1 Zornitza Stark reviewed gene: BAP1: Rating: RED; Mode of pathogenicity: None; Publications: 21941004, 23684012, 21874000, 21874003; Phenotypes: Tumor predisposition syndrome, MIM# 614327; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Classified gene: VKORC1 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.32 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: VKORC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VKORC1 were set to 21900891; 28198005
Phenotypes for gene: VKORC1 were set to Warfarin resistance, MIM# 122700
Review for gene: VKORC1 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.31 CYP2C9 Zornitza Stark Publications for gene: CYP2C9 were set to 25099164
Pharmacogenomics_Paediatric v0.30 CYP2C9 Zornitza Stark edited their review of gene: CYP2C9: Changed publications: 25099164, 21900891, 28198005
Pharmacogenomics_Paediatric v0.30 CYP3A5 Zornitza Stark Publications for gene: CYP3A5 were set to
Pharmacogenomics_Paediatric v0.29 CYP3A5 Zornitza Stark edited their review of gene: CYP3A5: Changed publications: 25801146
Pharmacogenomics_Paediatric v0.29 CYP2C9 Zornitza Stark Publications for gene: CYP2C9 were set to
Pharmacogenomics_Paediatric v0.28 CYP2C9 Zornitza Stark edited their review of gene: CYP2C9: Changed publications: 25099164
Pharmacogenomics_Paediatric v0.28 HLA-B Zornitza Stark Publications for gene: HLA-B were set to 25099164; 23695185
Pharmacogenomics_Paediatric v0.27 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164, 23695185, 29392710
Pharmacogenomics_Paediatric v0.27 TPMT Zornitza Stark Publications for gene: TPMT were set to
Pharmacogenomics_Paediatric v0.26 TPMT Zornitza Stark edited their review of gene: TPMT: Changed publications: 21270794, 23422873, 30447069
Pharmacogenomics_Paediatric v0.26 NUDT15 Zornitza Stark Publications for gene: NUDT15 were set to
Pharmacogenomics_Paediatric v0.25 NUDT15 Zornitza Stark edited their review of gene: NUDT15: Changed publications: 21270794, 23422873, 30447069
Pharmacogenomics_Paediatric v0.25 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164, 23695185
Pharmacogenomics_Paediatric v0.25 HLA-B Zornitza Stark Publications for gene: HLA-B were set to 25099164
Pharmacogenomics_Paediatric v0.24 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 23695185
Pharmacogenomics_Paediatric v0.24 HLA-B Zornitza Stark Publications for gene: HLA-B were set to
Pharmacogenomics_Paediatric v0.23 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Classified gene: CACNA1S as Green List (high evidence)
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.22 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1S were set to 30499100
Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, MIM# 601887
Review for gene: CACNA1S was set to GREEN
Added comment: Two variants, c.520C>T; p.(Arg174Trp) and 3257G>A; p.(Arg1086His) have high level of evidence.
Sources: Expert list
Pharmacogenomics_Paediatric v0.21 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Pharmacogenomics_Paediatric v0.20 RYR1 Zornitza Stark edited their review of gene: RYR1: Changed publications: 30499100; Changed phenotypes: {Malignant hyperthermia susceptibility 1} 145600
Pharmacogenomics_Paediatric v0.20 NUDT15 Zornitza Stark Phenotypes for gene: NUDT15 were changed from {Thiopurines, poor metabolism of, 2} 616903; Azathioprine to {Thiopurines, poor metabolism of, 2} 616903; Azathioprine; Mercaptopurine
Pharmacogenomics_Paediatric v0.19 NUDT15 Zornitza Stark edited their review of gene: NUDT15: Changed phenotypes: {Thiopurines, poor metabolism of, 2} 616903, Azathioprine, Mercaptopurine
Pharmacogenomics_Paediatric v0.19 CYP2C9 Zornitza Stark edited their review of gene: CYP2C9: Added comment: Activity levels of CYP2C9 are at 1-2% of adult values in the fetus during the first trimester. These levels gradually increase to 30% of adult values at term. There is a high variability in these levels during the first 5 months of life, with levels eventually approaching adult values somewhere between 5 months and 2 years of age.; Changed phenotypes: Warfarin sensitivity, MIM# 122700, Phenytoin
Pharmacogenomics_Paediatric v0.19 TPMT Zornitza Stark Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine
Pharmacogenomics_Paediatric v0.18 TPMT Zornitza Stark edited their review of gene: TPMT: Changed phenotypes: {Thiopurines, poor metabolism of, 1}, MIM# 610460, Azathioprine, Mercaptopurine
Rasopathy v0.33 MAPK1 Zornitza Stark Marked gene: MAPK1 as ready
Rasopathy v0.33 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Rasopathy v0.33 MAPK1 Zornitza Stark Classified gene: MAPK1 as Green List (high evidence)
Rasopathy v0.33 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Rasopathy v0.32 MAPK1 Zornitza Stark gene: MAPK1 was added
gene: MAPK1 was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin
Review for gene: MAPK1 was set to GREEN
Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.

The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.

MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.

MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).

The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome).
Sources: Literature
Mendeliome v0.3632 MAPK1 Zornitza Stark Marked gene: MAPK1 as ready
Mendeliome v0.3632 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Mendeliome v0.3632 MAPK1 Zornitza Stark Classified gene: MAPK1 as Green List (high evidence)
Mendeliome v0.3632 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Mendeliome v0.3631 MAPK1 Zornitza Stark gene: MAPK1 was added
gene: MAPK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin
Review for gene: MAPK1 was set to GREEN
Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.

The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.

MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.

MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).

The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2804 MAPK1 Zornitza Stark Marked gene: MAPK1 as ready
Intellectual disability syndromic and non-syndromic v0.2804 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2804 MAPK1 Zornitza Stark Classified gene: MAPK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2804 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2803 MAPK1 Konstantinos Varvagiannis gene: MAPK1 was added
gene: MAPK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin
Penetrance for gene: MAPK1 were set to unknown
Mode of pathogenicity for gene: MAPK1 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: MAPK1 was set to GREEN
Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.

The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.

MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.

MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).

The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome).

The authors comment that screening of 267 additional individuals with suspected RASopathy (without mutations in previously implicated genes) did not reveal other MAPK1 variants.

Overall this gene can be considered for inclusion in the ID panel with green rating.
Sources: Literature
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Tag mtDNA tag was added to gene: MT-RNR1.
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.17 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Gentamicin toxicity
Review for gene: MT-RNR1 was set to GREEN
Added comment: m.1555A>G  and m.1494C>T
Sources: Expert list
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Marked gene: NUDT15 as ready
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Gene: nudt15 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Classified gene: NUDT15 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Gene: nudt15 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.15 NUDT15 Zornitza Stark gene: NUDT15 was added
gene: NUDT15 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: NUDT15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NUDT15 were set to {Thiopurines, poor metabolism of, 2} 616903; Azathioprine
Review for gene: NUDT15 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Marked gene: HLA-B as ready
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Gene: hla-b has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Classified gene: HLA-B as Green List (high evidence)
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Gene: hla-b has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.13 HLA-B Zornitza Stark gene: HLA-B was added
gene: HLA-B was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: HLA-B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HLA-B were set to Carbamazepine; Oxcarbamazepine; Phenytoin
Review for gene: HLA-B was set to GREEN
Added comment: HLA-B*1502
Sources: Expert list
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Marked gene: HLA-A as ready
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Gene: hla-a has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Classified gene: HLA-A as Green List (high evidence)
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Gene: hla-a has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.11 HLA-A Zornitza Stark gene: HLA-A was added
gene: HLA-A was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: HLA-A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HLA-A were set to Carbamazepine
Review for gene: HLA-A was set to GREEN
Added comment: HLA-A*3101
Sources: Expert list
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Marked gene: CYP3A5 as ready
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Gene: cyp3a5 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Classified gene: CYP3A5 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Gene: cyp3a5 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.9 CYP3A5 Zornitza Stark gene: CYP3A5 was added
gene: CYP3A5 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: CYP3A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYP3A5 were set to Tacrolimus
Review for gene: CYP3A5 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Marked gene: CYP2C9 as ready
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Gene: cyp2c9 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Classified gene: CYP2C9 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Gene: cyp2c9 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.7 CYP2C9 Zornitza Stark gene: CYP2C9 was added
gene: CYP2C9 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYP2C9 were set to Warfarin sensitivity, MIM# 122700; Phenytoin
Review for gene: CYP2C9 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Marked gene: TPMT as ready
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Gene: tpmt has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Classified gene: TPMT as Green List (high evidence)
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Gene: tpmt has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.5 TPMT Zornitza Stark gene: TPMT was added
gene: TPMT was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPMT were set to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine
Review for gene: TPMT was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Marked gene: G6PD as ready
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Classified gene: G6PD as Green List (high evidence)
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.3 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: G6PD were set to Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Classified gene: RYR1 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.1 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1} 145600
Review for gene: RYR1 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.0 Zornitza Stark Added Panel Pharmacogenomics_Paediatric
Set panel types to: Australian Genomics
Callosome v0.175 ASPM Zornitza Stark Marked gene: ASPM as ready
Callosome v0.175 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Callosome v0.175 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716
Callosome v0.174 ASPM Zornitza Stark Publications for gene: ASPM were set to
Callosome v0.173 ASPM Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.172 ASPM Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2803 ASPM Zornitza Stark Marked gene: ASPM as ready
Intellectual disability syndromic and non-syndromic v0.2803 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2803 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716
Intellectual disability syndromic and non-syndromic v0.2802 ASPM Zornitza Stark Publications for gene: ASPM were set to
Intellectual disability syndromic and non-syndromic v0.2801 ASPM Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2800 ASPM Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.143 ASPM Zornitza Stark Marked gene: ASPM as ready
Microcephaly v0.143 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Microcephaly v0.143 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716
Microcephaly v0.142 ASPM Zornitza Stark Publications for gene: ASPM were set to
Microcephaly v0.141 ASPM Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.140 ASPM Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3630 ASPM Zornitza Stark Marked gene: ASPM as ready
Mendeliome v0.3630 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Mendeliome v0.3630 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716
Mendeliome v0.3629 ASPM Zornitza Stark Publications for gene: ASPM were set to
Mendeliome v0.3628 ASPM Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3627 ASPM Elena Savva reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:29243349; Phenotypes: Microcephaly 5, primary, autosomal recessive, 608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3627 AMBRA1 Bryony Thompson Marked gene: AMBRA1 as ready
Mendeliome v0.3627 AMBRA1 Bryony Thompson Gene: ambra1 has been classified as Green List (High Evidence).
Mendeliome v0.3627 AMBRA1 Bryony Thompson Classified gene: AMBRA1 as Green List (high evidence)
Mendeliome v0.3627 AMBRA1 Bryony Thompson Gene: ambra1 has been classified as Green List (High Evidence).
Mendeliome v0.3626 AMBRA1 Bryony Thompson gene: AMBRA1 was added
gene: AMBRA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMBRA1 were set to 17589504; 32333458
Phenotypes for gene: AMBRA1 were set to Neural tube defects
Review for gene: AMBRA1 was set to GREEN
Added comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects.
Sources: Literature
Mendeliome v0.3625 ERLEC1 Bryony Thompson Classified gene: ERLEC1 as Green List (high evidence)
Mendeliome v0.3625 ERLEC1 Bryony Thompson Gene: erlec1 has been classified as Green List (High Evidence).
Mendeliome v0.3624 ERLEC1 Bryony Thompson gene: ERLEC1 was added
gene: ERLEC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ERLEC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERLEC1 were set to 32442352
Phenotypes for gene: ERLEC1 were set to Class III malocclusion
Review for gene: ERLEC1 was set to GREEN
Added comment: A heterozygous missense variant was found to co-segregate with dentofacial deformity in a multi-generational Chinese pedigree (2 unaffected carriers & 11 affected carriers), and 3 additional missense variants were identified in 3 unrelated cases from a sporadic malocclusion cohort. Additional functional assays were conducted to demonstrate that the proper level of ERLEC1 expression is crucial for proper osteogenic differentiation. All identified missense variants were assessed using luciferase reporter assays, and altered activity.
Sources: Literature
Pancreatitis v0.28 TRPV6 Bryony Thompson changed review comment from: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature; to: Two studies identified a significant over-representation of loss of function, mainly missense variants (tested in in vitro functional assays) in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature
Pancreatitis v0.28 TRPV6 Bryony Thompson Marked gene: TRPV6 as ready
Pancreatitis v0.28 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Pancreatitis v0.28 TRPV6 Bryony Thompson Classified gene: TRPV6 as Green List (high evidence)
Pancreatitis v0.28 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Pancreatitis v0.27 TRPV6 Bryony Thompson gene: TRPV6 was added
gene: TRPV6 was added to Pancreatitis. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV6 were set to 32383311; 31930989
Phenotypes for gene: TRPV6 were set to Early onset chronic pancreatitis susceptibility
Review for gene: TRPV6 was set to GREEN
Added comment: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature
Autism v0.104 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Mendeliome v0.3623 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Mendeliome v0.3622 RIMS2 Zornitza Stark edited their review of gene: RIMS2: Changed phenotypes: nystagmus, retinal dysfunction, autism, night blindness, Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Congenital Stationary Night Blindness v0.4 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Congenital Stationary Night Blindness v0.3 RIMS2 Zornitza Stark reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.19 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Vasculitis v0.19 WDR1 Zornitza Stark Gene: wdr1 has been classified as Red List (Low Evidence).
Vasculitis v0.19 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Vasculitis v0.18 WDR1 Zornitza Stark Publications for gene: WDR1 were set to
Vasculitis v0.17 WDR1 Zornitza Stark Mode of inheritance for gene: WDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.16 WDR1 Zornitza Stark Classified gene: WDR1 as Red List (low evidence)
Vasculitis v0.16 WDR1 Zornitza Stark Gene: wdr1 has been classified as Red List (Low Evidence).
Vasculitis v0.15 WDR1 Zornitza Stark reviewed gene: WDR1: Rating: RED; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate, Autoinflammatory periodic fever, Thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3622 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Mendeliome v0.3622 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Mendeliome v0.3622 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Mendeliome v0.3621 WDR1 Zornitza Stark Publications for gene: WDR1 were set to
Mendeliome v0.3620 WDR1 Zornitza Stark Mode of inheritance for gene: WDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3619 WDR1 Zornitza Stark reviewed gene: WDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate, Autoinflammatory periodic fever, Thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.39 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Phagocyte Defects v0.38 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Classified gene: WDR1 as Green List (high evidence)
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.86 WDR1 Zornitza Stark gene: WDR1 was added
gene: WDR1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR1 were set to 27557945; 29751004; 27994071
Phenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
Review for gene: WDR1 was set to GREEN
Added comment: At least 7 families reported.
Sources: Expert list
Hair disorders v0.34 HOXC13 Bryony Thompson Marked gene: HOXC13 as ready
Hair disorders v0.34 HOXC13 Bryony Thompson Gene: hoxc13 has been classified as Green List (High Evidence).
Hair disorders v0.34 HOXC13 Bryony Thompson Classified gene: HOXC13 as Green List (high evidence)
Hair disorders v0.34 HOXC13 Bryony Thompson Gene: hoxc13 has been classified as Green List (High Evidence).
Hair disorders v0.33 HOXC13 Bryony Thompson gene: HOXC13 was added
gene: HOXC13 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXC13 were set to 23063621; 23315978; 29278420
Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9, hair/nail type MIM#614931
Review for gene: HOXC13 was set to GREEN
Added comment: 4 unrelated families with 4 different homozygous variants with hair abnormalities as a feature of the disease phenotype.
Sources: Literature
Mendeliome v0.3619 KREMEN1 Bryony Thompson Marked gene: KREMEN1 as ready
Mendeliome v0.3619 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3619 KREMEN1 Bryony Thompson Classified gene: KREMEN1 as Amber List (moderate evidence)
Mendeliome v0.3619 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3618 KREMEN1 Bryony Thompson gene: KREMEN1 was added
gene: KREMEN1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KREMEN1 were set to 27049303; 27550540
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392
Review for gene: KREMEN1 was set to AMBER
Added comment: 4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development.
Sources: Expert list
Hair disorders v0.32 KREMEN1 Bryony Thompson Marked gene: KREMEN1 as ready
Hair disorders v0.32 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.32 KREMEN1 Bryony Thompson Classified gene: KREMEN1 as Amber List (moderate evidence)
Hair disorders v0.32 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.31 KREMEN1 Bryony Thompson gene: KREMEN1 was added
gene: KREMEN1 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KREMEN1 were set to 27049303; 27550540
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392
Review for gene: KREMEN1 was set to AMBER
Added comment: 4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development.
Sources: Expert list
Hair disorders v0.30 TSPEAR Bryony Thompson Marked gene: TSPEAR as ready
Hair disorders v0.30 TSPEAR Bryony Thompson Gene: tspear has been classified as Green List (High Evidence).
Hair disorders v0.30 TSPEAR Bryony Thompson Classified gene: TSPEAR as Green List (high evidence)
Hair disorders v0.30 TSPEAR Bryony Thompson Gene: tspear has been classified as Green List (High Evidence).
Hair disorders v0.29 TSPEAR Bryony Thompson gene: TSPEAR was added
gene: TSPEAR was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 27736875
Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MIM#618180
Review for gene: TSPEAR was set to GREEN
Added comment: 2 frameshift and 2 missense variants segregating with disease phenotype, which includes hair abnormalities in 3 families, and supporting functional assays.
Sources: Expert list
Hair disorders v0.28 KRT85 Bryony Thompson Classified gene: KRT85 as Green List (high evidence)
Hair disorders v0.28 KRT85 Bryony Thompson Gene: krt85 has been classified as Green List (High Evidence).
Hair disorders v0.27 KRT85 Bryony Thompson gene: KRT85 was added
gene: KRT85 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT85 were set to 16525032; 19865094; 31273852
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type MIM#602032
Review for gene: KRT85 was set to GREEN
Added comment: 4 families reported, 3 homozygous with 2 different variants and 1 compound heterozygous with hair abnormalities as a feature of the condition.
Sources: Expert list
Hair disorders v0.26 CST6 Bryony Thompson Marked gene: CST6 as ready
Hair disorders v0.26 CST6 Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.26 CST6 Bryony Thompson Classified gene: CST6 as Amber List (moderate evidence)
Hair disorders v0.26 CST6 Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.25 CST6 Bryony Thompson gene: CST6 was added
gene: CST6 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CST6 were set to 30425301; 12393798
Phenotypes for gene: CST6 were set to Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535
Review for gene: CST6 was set to AMBER
Added comment: A single family reported with hypotrichosis and a supporting null mouse model
Sources: Expert list
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Marked gene: ANO1 as ready
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Classified gene: ANO1 as Amber List (moderate evidence)
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Congenital Diarrhoea v0.2 ANO1 Zornitza Stark gene: ANO1 was added
gene: ANO1 was added to Congenital Diarrhoea. Sources: Literature
Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO1 were set to 32487539
Phenotypes for gene: ANO1 were set to Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features
Review for gene: ANO1 was set to AMBER
Added comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Sources: Literature
Mendeliome v0.3617 ANO1 Zornitza Stark Phenotypes for gene: ANO1 were changed from Impaired intestinal peristalsis; dysmorphic features to Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features
Mendeliome v0.3616 ANO1 Zornitza Stark Marked gene: ANO1 as ready
Mendeliome v0.3616 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3616 ANO1 Zornitza Stark Phenotypes for gene: ANO1 were changed from to Impaired intestinal peristalsis; dysmorphic features
Mendeliome v0.3615 ANO1 Zornitza Stark Classified gene: ANO1 as Amber List (moderate evidence)
Mendeliome v0.3615 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2800 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Intellectual disability syndromic and non-syndromic v0.2800 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2800 TUBB2A Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763
Intellectual disability syndromic and non-syndromic v0.2799 TUBB2A Zornitza Stark Publications for gene: TUBB2A were set to
Intellectual disability syndromic and non-syndromic v0.2798 TUBB2A Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2797 TUBB2A Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.9 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Tubulinopathies v0.9 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Tubulinopathies v0.9 TUBB2A Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763
Tubulinopathies v0.8 TUBB2A Zornitza Stark Publications for gene: TUBB2A were set to
Tubulinopathies v0.7 TUBB2A Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.6 TUBB2A Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3614 TUBB2A Zornitza Stark edited their review of gene: TUBB2A: Changed publications: 32571897
Mendeliome v0.3614 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Mendeliome v0.3614 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Mendeliome v0.3614 TUBB2A Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5 MIM#615763
Mendeliome v0.3613 TUBB2A Zornitza Stark Publications for gene: TUBB2A were set to
Mendeliome v0.3612 TUBB2A Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3611 TUBB2A Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3611 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Mendeliome v0.3611 PMP22 Zornitza Stark Gene: pmp22 has been classified as Green List (High Evidence).
Mendeliome v0.3611 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800
Mendeliome v0.3610 PMP22 Zornitza Stark Publications for gene: PMP22 were set to
Mendeliome v0.3609 PMP22 Zornitza Stark Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3608 PMP22 Zornitza Stark Tag SV/CNV tag was added to gene: PMP22.
Mendeliome v0.3608 PMP22 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Note mechanism is often CNV.
Mendeliome v0.3608 PMP22 Zornitza Stark reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1A, MIM# 118220, Charcot-Marie-Tooth disease, type 1E, MIM# 118300, Dejerine-Sottas disease, MIM# 145900, Neuropathy, recurrent, with pressure palsies 162500, Roussy-Levy syndrome 180800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3608 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Mendeliome v0.3608 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.62 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.62 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.62 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125
Anophthalmia_Microphthalmia_Coloboma v0.61 OTX2 Zornitza Stark Publications for gene: OTX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.60 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.59 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3608 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125; Pituitary hormone deficiency, combined, 6, MIM# 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125
Mendeliome v0.3607 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3606 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125, Pituitary hormone deficiency, combined, 6, MIM# 613986, Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.81 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Bone Marrow Failure v0.81 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.81 CDAN1 Zornitza Stark Phenotypes for gene: CDAN1 were changed from to Dyserythropoietic anemia, congenital, type Ia, 224120
Bone Marrow Failure v0.80 CDAN1 Zornitza Stark Publications for gene: CDAN1 were set to
Bone Marrow Failure v0.79 CDAN1 Zornitza Stark Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.78 CDAN1 Zornitza Stark reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3606 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Mendeliome v0.3606 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Mendeliome v0.3606 CDAN1 Zornitza Stark Phenotypes for gene: CDAN1 were changed from to Dyserythropoietic anemia, congenital, type Ia, 224120
Mendeliome v0.3605 CDAN1 Zornitza Stark Publications for gene: CDAN1 were set to
Mendeliome v0.3604 CDAN1 Zornitza Stark Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.151 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Congenital Disorders of Glycosylation v0.151 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.151 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273
Congenital Disorders of Glycosylation v0.150 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Congenital Disorders of Glycosylation v0.149 NGLY1 Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.148 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694, 32259258; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3603 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Mendeliome v0.3603 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Mendeliome v0.3603 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273
Mendeliome v0.3602 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Mendeliome v0.3601 NGLY1 Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3600 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.59 IMPG2 Zornitza Stark Marked gene: IMPG2 as ready
Retinitis pigmentosa v0.59 IMPG2 Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.59 IMPG2 Zornitza Stark Publications for gene: IMPG2 were set to
Retinitis pigmentosa v0.58 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.57 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.56 IMPG2 Zornitza Stark reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: Retinitis pigmentosa 56, MIM# MIM#613581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3600 IMPG2 Zornitza Stark Phenotypes for gene: IMPG2 were changed from Retinitis pigmentosa 56, MIM#613581 to Retinitis pigmentosa 56, MIM#613581; Macular dystrophy, vitelliform, 5, MIM# 616152
Mendeliome v0.3599 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3598 IMPG2 Zornitza Stark Marked gene: IMPG2 as ready
Mendeliome v0.3598 IMPG2 Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence).
Mendeliome v0.3598 IMPG2 Zornitza Stark Phenotypes for gene: IMPG2 were changed from to Retinitis pigmentosa 56, MIM#613581
Mendeliome v0.3597 IMPG2 Zornitza Stark Publications for gene: IMPG2 were set to
Mendeliome v0.3596 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Marked gene: GNPNAT1 as ready
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.38 GNPNAT1 Zornitza Stark gene: GNPNAT1 was added
gene: GNPNAT1 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia
Review for gene: GNPNAT1 was set to AMBER
Added comment: PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1.
Sources: Expert list
Mendeliome v0.3595 GNPNAT1 Zornitza Stark Marked gene: GNPNAT1 as ready
Mendeliome v0.3595 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3595 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence)
Mendeliome v0.3595 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2797 EEF1A2 Zornitza Stark Marked gene: EEF1A2 as ready
Intellectual disability syndromic and non-syndromic v0.2797 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2797 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393
Intellectual disability syndromic and non-syndromic v0.2796 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to
Intellectual disability syndromic and non-syndromic v0.2795 EEF1A2 Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.2794 EEF1A2 Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2793 EEF1A2 Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: Epileptic encephalopathy, early infantile, 33, MIM# 616409, Mental retardation, autosomal dominant 38, MIM# 616393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.766 EEF1A2 Zornitza Stark Marked gene: EEF1A2 as ready
Genetic Epilepsy v0.766 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.766 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393
Genetic Epilepsy v0.765 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to
Genetic Epilepsy v0.764 EEF1A2 Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.763 EEF1A2 Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.762 EEF1A2 Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: Epileptic encephalopathy, early infantile, 33, MIM# 616409, Mental retardation, autosomal dominant 38, MIM# 616393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3594 EEF1A2 Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3593 EEF1A2 Zornitza Stark Marked gene: EEF1A2 as ready
Mendeliome v0.3593 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence).
Mendeliome v0.3593 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393
Mendeliome v0.3592 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to
Mendeliome v0.3591 EEF1A2 Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hair disorders v0.24 KDF1 Bryony Thompson Marked gene: KDF1 as ready
Hair disorders v0.24 KDF1 Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.24 KDF1 Bryony Thompson Classified gene: KDF1 as Amber List (moderate evidence)
Hair disorders v0.24 KDF1 Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.23 KDF1 Bryony Thompson gene: KDF1 was added
gene: KDF1 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDF1 were set to 27838789; 24075906
Phenotypes for gene: KDF1 were set to Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337
Review for gene: KDF1 was set to AMBER
Added comment: A single multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia, with hair abnormalities and a supporting null mouse model.
Sources: Expert list
Hair disorders v0.22 RMRP Bryony Thompson Marked gene: RMRP as ready
Hair disorders v0.22 RMRP Bryony Thompson Gene: rmrp has been classified as Green List (High Evidence).
Hair disorders v0.22 RMRP Bryony Thompson Classified gene: RMRP as Green List (high evidence)
Hair disorders v0.22 RMRP Bryony Thompson Gene: rmrp has been classified as Green List (High Evidence).
Hair disorders v0.21 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMRP were set to 16838329; 11207361
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia MIM#250250
Review for gene: RMRP was set to GREEN
Added comment: Well-established cause of a hair abnormality
Sources: Expert list
Mendeliome v0.3590 ANO1 Arina Puzriakova changed review comment from: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Sources: Literature; to: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Sources: Literature
Mendeliome v0.3590 ANO1 Arina Puzriakova gene: ANO1 was added
gene: ANO1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO1 were set to 32487539
Added comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Sources: Literature
Mendeliome v0.3590 TUBB2A Arina Puzriakova commented on gene: TUBB2A
Mendeliome v0.3590 PMP22 Eleanor Williams reviewed gene: PMP22: Rating: ; Mode of pathogenicity: None; Publications: 32356557; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3590 OTX2 Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3590 CDAN1 Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3590 NGLY1 Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3590 GNPNAT1 Arina Puzriakova edited their review of gene: GNPNAT1: Changed rating: AMBER
Mendeliome v0.3590 IMPG2 Eleanor Williams reviewed gene: IMPG2: Rating: ; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: Retinitis pigmentosa 56 MIM#613581; Mode of inheritance: None
Mendeliome v0.3590 GNPNAT1 Arina Puzriakova changed review comment from: Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype.
Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation.
Sources: Literature; to: PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype.
Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1.
Sources: Literature
Mendeliome v0.3590 GNPNAT1 Arina Puzriakova gene: GNPNAT1 was added
gene: GNPNAT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia
Review for gene: GNPNAT1 was set to RED
Added comment: Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype.
Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation.
Sources: Literature
Mendeliome v0.3590 EEF1A2 Eleanor Williams reviewed gene: EEF1A2: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: ; Mode of inheritance: None
Additional findings_Adult v0.119 VHL Zornitza Stark Marked gene: VHL as ready
Additional findings_Adult v0.119 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Additional findings_Adult v0.119 VHL Zornitza Stark Phenotypes for gene: VHL were changed from to von Hippel-Lindau syndrome , MIM#193300
Additional findings_Adult v0.118 VHL Zornitza Stark Mode of inheritance for gene: VHL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.117 VHL Zornitza Stark reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome , MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.117 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Additional findings_Adult v0.117 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.117 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254
Additional findings_Adult v0.116 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.115 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
Additional findings_Adult v0.115 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Additional findings_Adult v0.115 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.115 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100
Additional findings_Adult v0.114 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.113 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
Additional findings_Adult v0.113 TPM1 Zornitza Stark Marked gene: TPM1 as ready
Additional findings_Adult v0.113 TPM1 Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.113 TPM1 Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196; Left ventricular noncompaction 9, MIM# 611878
Additional findings_Adult v0.112 TPM1 Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.111 TPM1 Zornitza Stark reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878, Cardiomyopathy, hypertrophic, 3, MIM# 115196, Left ventricular noncompaction 9, MIM# 611878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.111 TP53 Zornitza Stark Marked gene: TP53 as ready
Additional findings_Adult v0.111 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Additional findings_Adult v0.111 TP53 Zornitza Stark Phenotypes for gene: TP53 were changed from to Li-Fraumeni syndrome, MIM# 151623
Additional findings_Adult v0.110 TP53 Zornitza Stark Mode of inheritance for gene: TP53 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.109 TP53 Zornitza Stark reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Li-Fraumeni syndrome, MIM# 151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.109 TNNT2 Zornitza Stark Marked gene: TNNT2 as ready
Additional findings_Adult v0.109 TNNT2 Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.109 TNNT2 Zornitza Stark Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Left ventricular noncompaction 6, MIM# 601494
Additional findings_Adult v0.108 TNNT2 Zornitza Stark Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.107 TNNT2 Zornitza Stark reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494, Cardiomyopathy, familial restrictive, 3, MIM# 612422, Cardiomyopathy, hypertrophic, 2, MIM# 115195, Left ventricular noncompaction 6, MIM# 601494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.107 TNNI3 Zornitza Stark Marked gene: TNNI3 as ready
Additional findings_Adult v0.107 TNNI3 Zornitza Stark Gene: tnni3 has been classified as Green List (High Evidence).
Additional findings_Adult v0.107 TNNI3 Zornitza Stark Phenotypes for gene: TNNI3 were changed from to Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, familial restrictive, MIM#1 115210; Cardiomyopathy, hypertrophic, 7 , MIM#613690
Additional findings_Adult v0.106 TNNI3 Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.105 TNNI3 Zornitza Stark reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1FF, MIM# 613286, Cardiomyopathy, familial restrictive, MIM#1 115210, Cardiomyopathy, hypertrophic, 7 , MIM#613690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.105 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Additional findings_Adult v0.105 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Green List (High Evidence).
Additional findings_Adult v0.105 TMEM43 Zornitza Stark Phenotypes for gene: TMEM43 were changed from to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
Additional findings_Adult v0.104 TMEM43 Zornitza Stark Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.103 TMEM43 Zornitza Stark reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.103 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Additional findings_Adult v0.103 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.103 TGFBR2 Zornitza Stark Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168
Additional findings_Adult v0.102 TGFBR2 Zornitza Stark Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.101 TGFBR2 Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.101 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Additional findings_Adult v0.101 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.101 TGFBR1 Zornitza Stark Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192
Additional findings_Adult v0.100 TGFBR1 Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.99 TGFBR1 Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.99 STK11 Zornitza Stark Marked gene: STK11 as ready
Additional findings_Adult v0.99 STK11 Zornitza Stark Gene: stk11 has been classified as Green List (High Evidence).
Additional findings_Adult v0.99 STK11 Zornitza Stark Phenotypes for gene: STK11 were changed from to Peutz-Jeghers syndrome, MIM# 175200
Additional findings_Adult v0.98 STK11 Zornitza Stark Mode of inheritance for gene: STK11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.97 STK11 Zornitza Stark reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.97 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Additional findings_Adult v0.97 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Additional findings_Adult v0.97 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to vJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050
Additional findings_Adult v0.96 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.95 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.95 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Additional findings_Adult v0.95 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Additional findings_Adult v0.95 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Additional findings_Adult v0.94 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.93 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.93 SDHD Zornitza Stark Marked gene: SDHD as ready
Additional findings_Adult v0.93 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Additional findings_Adult v0.93 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300
Additional findings_Adult v0.92 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.91 SDHD Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000, Pheochromocytoma, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.91 SDHC Zornitza Stark Marked gene: SDHC as ready
Additional findings_Adult v0.91 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Additional findings_Adult v0.91 SDHC Zornitza Stark Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373
Additional findings_Adult v0.90 SDHC Zornitza Stark Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.89 SDHC Zornitza Stark reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 3, MIM# 605373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3590 PKD1L1 Zornitza Stark Marked gene: PKD1L1 as ready
Mendeliome v0.3590 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence).
Mendeliome v0.3590 PKD1L1 Zornitza Stark Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal (MIM#617205)
Mendeliome v0.3589 PKD1L1 Zornitza Stark Publications for gene: PKD1L1 were set to
Mendeliome v0.3588 PKD1L1 Zornitza Stark Mode of inheritance for gene: PKD1L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3587 PKD1L1 Zornitza Stark reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616478, 30664273, 20080492, 31026592; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.109 PKD1L1 Zornitza Stark Marked gene: PKD1L1 as ready
Heterotaxy v0.109 PKD1L1 Zornitza Stark Added comment: Comment when marking as ready: Additional family reported, promote to Green.
Heterotaxy v0.109 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence).
Heterotaxy v0.109 PKD1L1 Zornitza Stark Phenotypes for gene: PKD1L1 were changed from Heterotaxy, visceral, 8, autosomal (MIM#617205) to Heterotaxy, visceral, 8, autosomal (MIM#617205); heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia
Heterotaxy v0.108 PKD1L1 Zornitza Stark Publications for gene: PKD1L1 were set to 27616478; 30664273; 20080492
Heterotaxy v0.107 PKD1L1 Zornitza Stark Classified gene: PKD1L1 as Green List (high evidence)
Heterotaxy v0.107 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.89 SDHB Zornitza Stark Marked gene: SDHB as ready
Additional findings_Adult v0.89 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Additional findings_Adult v0.89 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310
Additional findings_Adult v0.88 SDHB Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.87 SDHB Zornitza Stark reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 4, MIM# 115310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.87 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Additional findings_Adult v0.87 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.87 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650
Additional findings_Adult v0.86 SDHAF2 Zornitza Stark Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.85 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.85 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Additional findings_Adult v0.85 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Additional findings_Adult v0.85 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from to Atrial fibrillation, familial, 10, MIM# 614022; Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900; Heart block, progressive, type IA, MIM# 113900; Long QT syndrome 3, MIM# 603830
Additional findings_Adult v0.84 SCN5A Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.83 SCN5A Zornitza Stark reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 10, MIM# 614022, Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900, Heart block, progressive, type IA, MIM# 113900, Long QT syndrome 3, MIM# 603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.83 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Additional findings_Adult v0.83 RYR2 Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.83 RYR2 Zornitza Stark Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2 , MIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
Additional findings_Adult v0.82 RYR2 Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.81 RYR2 Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 , MIM#600996, Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.81 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Additional findings_Adult v0.81 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.81 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to {Malignant hyperthermia susceptibility 1}, MIM#145600
Additional findings_Adult v0.80 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.79 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Malignant hyperthermia susceptibility 1}, MIM#145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.79 RET Zornitza Stark Marked gene: RET as ready
Additional findings_Adult v0.79 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Additional findings_Adult v0.79 RET Zornitza Stark Phenotypes for gene: RET were changed from to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Additional findings_Adult v0.78 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.77 RET Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.77 PTEN Zornitza Stark Marked gene: PTEN as ready
Additional findings_Adult v0.77 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Additional findings_Adult v0.77 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM# 158350
Additional findings_Adult v0.76 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Additional findings_Adult v0.75 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cowden syndrome 1, MIM# 158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.75 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Additional findings_Adult v0.75 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.75 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858
Additional findings_Adult v0.74 PRKAG2 Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.73 PRKAG2 Zornitza Stark reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.73 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Additional findings_Adult v0.73 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.73 PMS2 Zornitza Stark Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337
Additional findings_Adult v0.72 PMS2 Zornitza Stark Mode of inheritance for gene: PMS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.71 PMS2 Zornitza Stark reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.71 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Additional findings_Adult v0.71 PKP2 Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.71 PKP2 Zornitza Stark Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Additional findings_Adult v0.70 PKP2 Zornitza Stark Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.69 PKP2 Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.69 PCSK9 Zornitza Stark Marked gene: PCSK9 as ready
Additional findings_Adult v0.69 PCSK9 Zornitza Stark Gene: pcsk9 has been classified as Green List (High Evidence).
Additional findings_Adult v0.69 PCSK9 Zornitza Stark Phenotypes for gene: PCSK9 were changed from to Hypercholesterolemia, familial, 3, MIM# 603776
Additional findings_Adult v0.68 PCSK9 Zornitza Stark Mode of inheritance for gene: PCSK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.67 PCSK9 Zornitza Stark reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 3, MIM# 603776; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.67 OTC Zornitza Stark Marked gene: OTC as ready
Additional findings_Adult v0.67 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Additional findings_Adult v0.67 OTC Zornitza Stark Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency, MIM# 311250
Additional findings_Adult v0.66 OTC Zornitza Stark Mode of inheritance for gene: OTC 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)
Additional findings_Adult v0.65 OTC Zornitza Stark reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; 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)
Additional findings_Adult v0.65 NF2 Zornitza Stark Marked gene: NF2 as ready
Additional findings_Adult v0.65 NF2 Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.65 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2, MIM# 101000
Additional findings_Adult v0.64 NF2 Zornitza Stark Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.63 NF2 Zornitza Stark reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2, MIM# 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.63 MYL3 Zornitza Stark Marked gene: MYL3 as ready
Additional findings_Adult v0.63 MYL3 Zornitza Stark Gene: myl3 has been classified as Green List (High Evidence).
Additional findings_Adult v0.63 MYL3 Zornitza Stark Phenotypes for gene: MYL3 were changed from to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Additional findings_Adult v0.62 MYL3 Zornitza Stark Mode of inheritance for gene: MYL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.61 MYL3 Zornitza Stark reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.61 MYL2 Zornitza Stark Marked gene: MYL2 as ready
Additional findings_Adult v0.61 MYL2 Zornitza Stark Gene: myl2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.61 MYL2 Zornitza Stark Phenotypes for gene: MYL2 were changed from to Cardiomyopathy, hypertrophic, 10, MIM# 608758
Additional findings_Adult v0.60 MYL2 Zornitza Stark Mode of inheritance for gene: MYL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.59 MYL2 Zornitza Stark reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 10, MIM# 608758; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.59 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Additional findings_Adult v0.59 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Additional findings_Adult v0.59 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; Cardiomyopathy, hypertrophic, 1, MIM# 192600
Additional findings_Adult v0.58 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.57 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, Cardiomyopathy, hypertrophic, 1, MIM# 192600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.57 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Additional findings_Adult v0.57 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Additional findings_Adult v0.57 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from to Aortic aneurysm, familial thoracic 4, MIM# 132900
Additional findings_Adult v0.56 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.55 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.55 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Additional findings_Adult v0.55 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Additional findings_Adult v0.55 MYBPC3 Zornitza Stark Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197; Left ventricular noncompaction 10, MIM# 615396
Additional findings_Adult v0.54 MYBPC3 Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.53 MYBPC3 Zornitza Stark reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM# 615396, Cardiomyopathy, hypertrophic, 4, MIM# 115197, Left ventricular noncompaction 10, MIM# 615396; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.53 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Additional findings_Adult v0.53 MUTYH Zornitza Stark Gene: mutyh has been classified as Green List (High Evidence).
Additional findings_Adult v0.53 MUTYH Zornitza Stark Phenotypes for gene: MUTYH were changed from to Adenomas, multiple colorectal, MIM# 608456
Additional findings_Adult v0.52 MUTYH Zornitza Stark Mode of inheritance for gene: MUTYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.51 MUTYH Zornitza Stark reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomas, multiple colorectal, MIM# 608456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.51 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Additional findings_Adult v0.51 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Additional findings_Adult v0.51 MSH6 Zornitza Stark Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350
Additional findings_Adult v0.50 MSH6 Zornitza Stark Mode of inheritance for gene: MSH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.49 MSH6 Zornitza Stark reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.49 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Additional findings_Adult v0.49 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.49 MSH2 Zornitza Stark Phenotypes for gene: MSH2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435
Additional findings_Adult v0.48 MSH2 Zornitza Stark Mode of inheritance for gene: MSH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.47 MSH2 Zornitza Stark reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.47 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Additional findings_Adult v0.47 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.47 MLH1 Zornitza Stark Phenotypes for gene: MLH1 were changed from to Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310
Additional findings_Adult v0.46 MLH1 Zornitza Stark Mode of inheritance for gene: MLH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.45 MLH1 Zornitza Stark reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.45 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Additional findings_Adult v0.45 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.45 MEN1 Zornitza Stark Phenotypes for gene: MEN1 were changed from to Multiple endocrine neoplasia 1, MIM# 131100
Additional findings_Adult v0.44 MEN1 Zornitza Stark Mode of inheritance for gene: MEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.43 MEN1 Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM# 131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.43 LMNA Zornitza Stark Marked gene: LMNA as ready
Additional findings_Adult v0.43 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Additional findings_Adult v0.43 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Cardiomyopathy, dilated, 1A, MIM# 115200
Additional findings_Adult v0.42 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.41 LMNA Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.41 LDLR Zornitza Stark Marked gene: LDLR as ready
Additional findings_Adult v0.41 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Additional findings_Adult v0.41 LDLR Zornitza Stark Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1, MIM# 143890
Additional findings_Adult v0.40 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.39 LDLR Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 1, MIM# 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.39 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Additional findings_Adult v0.39 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.39 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Long QT syndrome 1, MIM# 192500
Additional findings_Adult v0.38 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.37 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.37 KCNH2 Zornitza Stark Marked gene: KCNH2 as ready
Additional findings_Adult v0.37 KCNH2 Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.37 KCNH2 Zornitza Stark Phenotypes for gene: KCNH2 were changed from to Long QT syndrome 2, MIM# 613688
Additional findings_Adult v0.36 KCNH2 Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.35 KCNH2 Zornitza Stark reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 2, MIM# 613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.35 HFE Zornitza Stark Marked gene: HFE as ready
Additional findings_Adult v0.35 HFE Zornitza Stark Gene: hfe has been classified as Green List (High Evidence).
Additional findings_Adult v0.35 HFE Zornitza Stark Phenotypes for gene: HFE were changed from to Haemochromatosis, MIM# 235200
Additional findings_Adult v0.34 HFE Zornitza Stark Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.33 HFE Zornitza Stark reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.33 GLA Zornitza Stark Marked gene: GLA as ready
Additional findings_Adult v0.33 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Additional findings_Adult v0.33 GLA Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500
Additional findings_Adult v0.32 GLA Zornitza Stark Mode of inheritance for gene: GLA 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)
Additional findings_Adult v0.31 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Additional findings_Adult v0.31 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Additional findings_Adult v0.31 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.31 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700
Additional findings_Adult v0.30 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.29 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.29 DSP Zornitza Stark Marked gene: DSP as ready
Additional findings_Adult v0.29 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Additional findings_Adult v0.29 DSP Zornitza Stark Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821
Additional findings_Adult v0.28 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.27 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.27 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Additional findings_Adult v0.27 DSG2 Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.27 DSG2 Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Additional findings_Adult v0.26 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.25 DSG2 Zornitza Stark reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.25 DSC2 Zornitza Stark Marked gene: DSC2 as ready
Additional findings_Adult v0.25 DSC2 Zornitza Stark Gene: dsc2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.25 DSC2 Zornitza Stark Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
Additional findings_Adult v0.24 DSC2 Zornitza Stark Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.23 DSC2 Zornitza Stark reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.23 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Additional findings_Adult v0.23 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.23 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050
Additional findings_Adult v0.22 COL3A1 Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.21 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.21 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Additional findings_Adult v0.21 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Additional findings_Adult v0.21 CACNA1S Zornitza Stark Phenotypes for gene: CACNA1S were changed from to Malignant hyperthermia susceptibility 5, MIM# 601887
Additional findings_Adult v0.20 CACNA1S Zornitza Stark Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.19 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malignant hyperthermia susceptibility 5, MIM# 601887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.19 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Additional findings_Adult v0.19 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.19 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Breast-ovarian cancer, familial, 2, MIM#612555
Additional findings_Adult v0.18 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.17 BRCA2 Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 2, MIM#612555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.17 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Additional findings_Adult v0.17 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.17 BRCA1 Zornitza Stark Phenotypes for gene: BRCA1 were changed from to Breast-ovarian cancer, familial, 1, MIM# 604370
Additional findings_Adult v0.16 BRCA1 Zornitza Stark Mode of inheritance for gene: BRCA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.15 BRCA1 Zornitza Stark reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 1, MIM# 604370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.15 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Additional findings_Adult v0.15 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Additional findings_Adult v0.15 BMPR1A Zornitza Stark Phenotypes for gene: BMPR1A were changed from to Polyposis, juvenile intestinal, MIM# 174900
Additional findings_Adult v0.14 BMPR1A Zornitza Stark Mode of inheritance for gene: BMPR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.13 BMPR1A Zornitza Stark reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.13 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Additional findings_Adult v0.13 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Additional findings_Adult v0.13 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Additional findings_Adult v0.12 ATP7B Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.11 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.11 APOB Zornitza Stark Marked gene: APOB as ready
Additional findings_Adult v0.11 APOB Zornitza Stark Gene: apob has been classified as Green List (High Evidence).
Additional findings_Adult v0.11 APOB Zornitza Stark Phenotypes for gene: APOB were changed from to Hypercholesterolemia, familial, 2, MIM# 144010
Additional findings_Adult v0.10 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.9 APOB Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 2, MIM# 144010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.9 APC Zornitza Stark Marked gene: APC as ready
Additional findings_Adult v0.9 APC Zornitza Stark Gene: apc has been classified as Green List (High Evidence).
Additional findings_Adult v0.9 APC Zornitza Stark Phenotypes for gene: APC were changed from to Adenomatous polyposis coli, MIM# 175100
Additional findings_Adult v0.8 APC Zornitza Stark Mode of inheritance for gene: APC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.7 APC Zornitza Stark reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.7 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Additional findings_Adult v0.7 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.7 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Left ventricular noncompaction 4, MIM# 613424
Additional findings_Adult v0.6 ACTC1 Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.5 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424, Cardiomyopathy, hypertrophic, 11, MIM# 612098, Left ventricular noncompaction 4, MIM# 613424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.5 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Additional findings_Adult v0.5 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.5 ACTA2 Zornitza Stark Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788
Additional findings_Adult v0.4 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.3 ACTA2 Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hair disorders v0.20 KRT25 Bryony Thompson Classified gene: KRT25 as Green List (high evidence)
Hair disorders v0.20 KRT25 Bryony Thompson Gene: krt25 has been classified as Green List (High Evidence).
Hair disorders v0.19 KRT25 Bryony Thompson gene: KRT25 was added
gene: KRT25 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KRT25 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT25 were set to 26160856; 26902920; 29686323; 28899683
Phenotypes for gene: KRT25 were set to Woolly hair, autosomal recessive 3 MIM#616760
Review for gene: KRT25 was set to GREEN
Added comment: 4 unrelated families homozygous for 2 different missense variants and a single family segregating a heterozygous missense variant, with supporting in vitro functional assays. There is also supporting animal models.
Sources: Expert list
Combined Immunodeficiency v0.161 TERT Bryony Thompson reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: None; Publications: 32499645; Phenotypes: Dyskeratosis congenita with Variable lymphocyte numbers; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v0.106 PKD1L1 Anna Le Fevre reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31026592 (in addition to those listed below); Phenotypes: heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3587 IVNS1ABP Bryony Thompson Classified gene: IVNS1ABP as Green List (high evidence)
Mendeliome v0.3587 IVNS1ABP Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence).
Mendeliome v0.3586 IVNS1ABP Bryony Thompson gene: IVNS1ABP was added
gene: IVNS1ABP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IVNS1ABP were set to 32499645
Phenotypes for gene: IVNS1ABP were set to Primary immunodeficiency
Review for gene: IVNS1ABP was set to GREEN
Added comment: 3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes.
Sources: Literature
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Marked gene: IVNS1ABP as ready
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Classified gene: IVNS1ABP as Green List (high evidence)
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.160 IVNS1ABP Bryony Thompson gene: IVNS1ABP was added
gene: IVNS1ABP was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IVNS1ABP were set to 32499645
Phenotypes for gene: IVNS1ABP were set to Primary immunodeficiency
Review for gene: IVNS1ABP was set to GREEN
Added comment: 3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes.
Sources: Literature
Mendeliome v0.3585 PTPN2 Bryony Thompson Marked gene: PTPN2 as ready
Mendeliome v0.3585 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3585 PTPN2 Bryony Thompson Classified gene: PTPN2 as Amber List (moderate evidence)
Mendeliome v0.3585 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3584 PTPN2 Bryony Thompson gene: PTPN2 was added
gene: PTPN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN2 were set to 32499645; 27658548
Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency
Review for gene: PTPN2 was set to AMBER
Added comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype.
Sources: Literature
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Marked gene: PTPN2 as ready
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Classified gene: PTPN2 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.84 PTPN2 Bryony Thompson gene: PTPN2 was added
gene: PTPN2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN2 were set to 32499645; 27658548
Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency
Review for gene: PTPN2 was set to AMBER
Added comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype.
Sources: Literature
Mendeliome v0.3583 SOCS1 Bryony Thompson Marked gene: SOCS1 as ready
Mendeliome v0.3583 SOCS1 Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence).
Mendeliome v0.3583 SOCS1 Bryony Thompson Classified gene: SOCS1 as Green List (high evidence)
Mendeliome v0.3583 SOCS1 Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence).
Mendeliome v0.3582 SOCS1 Bryony Thompson gene: SOCS1 was added
gene: SOCS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100
Phenotypes for gene: SOCS1 were set to Common variable immunodeficiency
Review for gene: SOCS1 was set to GREEN
Added comment: 2 unrelated families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models.
Sources: Literature
Mitochondrial disease v0.455 MRPS28 Zornitza Stark Phenotypes for gene: MRPS28 were changed from Intrauterine growth retardation; developmental delay; dysmorphism to Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958
Mitochondrial disease v0.454 MRPS28 Zornitza Stark edited their review of gene: MRPS28: Changed phenotypes: Intrauterine growth retardation, developmental delay, dysmorphism, Combined oxidative phosphorylation deficiency 47, MIM618958
Mendeliome v0.3581 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficienciesHepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 45, MIM#618951
Mendeliome v0.3580 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.454 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 46, MIM618952
Mitochondrial disease v0.453 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 46, MIM618952
Mendeliome v0.3580 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951
Mendeliome v0.3579 MRPL12 Zornitza Stark edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.453 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.452 MRPL12 Zornitza Stark edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951
Mendeliome v0.3579 TASP1 Zornitza Stark Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities; Suleiman-El-Hattab syndrome, MIM#618950
Mendeliome v0.3578 TASP1 Zornitza Stark edited their review of gene: TASP1: Changed phenotypes: Developmental delay, microcephaly, dysmorphic features, congenital abnormalities, Suleiman-El-Hattab syndrome, MIM#618950
Intellectual disability syndromic and non-syndromic v0.2793 TASP1 Zornitza Stark Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities; Suleiman-El-Hattab syndrome, MIM#618950
Intellectual disability syndromic and non-syndromic v0.2792 TASP1 Zornitza Stark edited their review of gene: TASP1: Changed phenotypes: Developmental delay, microcephaly, dysmorphic features, congenital abnormalities, Suleiman-El-Hattab syndrome, MIM#618950
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Marked gene: LPIN1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Classified gene: LPIN1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence).
Glycogen Storage Diseases v0.23 ENO3 Zornitza Stark Marked gene: ENO3 as ready
Glycogen Storage Diseases v0.23 ENO3 Zornitza Stark Gene: eno3 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.23 ENO3 Zornitza Stark Phenotypes for gene: ENO3 were changed from to Glycogen storage disease XIII, MIM#612932
Glycogen Storage Diseases v0.22 ENO3 Zornitza Stark Publications for gene: ENO3 were set to
Glycogen Storage Diseases v0.21 ENO3 Zornitza Stark Mode of inheritance for gene: ENO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.20 ENO3 Crystle Lee reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31741825, 11506403, 18070103, 25267339; Phenotypes: Glycogen storage disease XIII MIM#612932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Classified gene: ACADSB as Green List (high evidence)
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Classified gene: SLC52A3 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.33 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Review for gene: SLC52A3 was set to GREEN
Added comment: Definitive by ClinGen.
Sources: Expert list
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.31 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Review for gene: SLC52A2 was set to GREEN
Added comment: Definitive by ClinGen.
Sources: Expert list
Fatty Acid Oxidation Defects v0.30 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Fatty Acid Oxidation Defects v0.30 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.30 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM# 212140
Fatty Acid Oxidation Defects v0.29 SLC22A5 Zornitza Stark Mode of inheritance for gene: SLC22A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.28 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Marked gene: PPARG as ready
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Classified gene: PPARG as Red List (low evidence)
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.27 PPARG Zornitza Stark reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3578 OXCT1 Zornitza Stark Marked gene: OXCT1 as ready
Mendeliome v0.3578 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Mendeliome v0.3578 OXCT1 Zornitza Stark Phenotypes for gene: OXCT1 were changed from to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Mendeliome v0.3577 OXCT1 Zornitza Stark Publications for gene: OXCT1 were set to
Mendeliome v0.3576 OXCT1 Zornitza Stark Mode of inheritance for gene: OXCT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3575 OXCT1 Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 10964512, 8751852, 23420214; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.27 OXCT1 Zornitza Stark Marked gene: OXCT1 as ready
Fatty Acid Oxidation Defects v0.27 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.27 OXCT1 Zornitza Stark Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565
Fatty Acid Oxidation Defects v0.26 OXCT1 Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11757586, 8844009; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.26 NADK2 Zornitza Stark Classified gene: NADK2 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.26 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark changed review comment from: Two families reported, rated as 'moderate' by ClinGen.
Sources: Expert list; to: At least three families reported, rated as 'moderate' by ClinGen but only two families considered at time of assessment.
Sources: Expert list
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark edited their review of gene: NADK2: Changed rating: GREEN; Changed publications: 24847004, 27940755, 23212377, 28923496, 29388319; Changed phenotypes: 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark Marked gene: NADK2 as ready
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark Gene: nadk2 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496
Fatty Acid Oxidation Defects v0.24 NADK2 Zornitza Stark Classified gene: NADK2 as Amber List (moderate evidence)
Fatty Acid Oxidation Defects v0.24 NADK2 Zornitza Stark Gene: nadk2 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.23 NADK2 Zornitza Stark gene: NADK2 was added
gene: NADK2 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Review for gene: NADK2 was set to AMBER
Added comment: Two families reported, rated as 'moderate' by ClinGen.
Sources: Expert list
Mendeliome v0.3575 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Mendeliome v0.3575 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Green List (High Evidence).
Mendeliome v0.3575 KCNJ1 Zornitza Stark Phenotypes for gene: KCNJ1 were changed from to Bartter syndrome, type 2, 241200
Mendeliome v0.3574 KCNJ1 Zornitza Stark Publications for gene: KCNJ1 were set to
Mendeliome v0.3573 KCNJ1 Zornitza Stark Mode of inheritance for gene: KCNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3572 ZFYVE27 Zornitza Stark Marked gene: ZFYVE27 as ready
Mendeliome v0.3572 ZFYVE27 Zornitza Stark Gene: zfyve27 has been classified as Red List (Low Evidence).
Mendeliome v0.3572 ZFYVE27 Zornitza Stark Phenotypes for gene: ZFYVE27 were changed from to Spastic paraplegia 33, autosomal dominant MIM#610244
Mendeliome v0.3571 ZFYVE27 Zornitza Stark Publications for gene: ZFYVE27 were set to
Mendeliome v0.3570 ZFYVE27 Zornitza Stark Mode of inheritance for gene: ZFYVE27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3569 KLF10 Zornitza Stark Marked gene: KLF10 as ready
Mendeliome v0.3569 KLF10 Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence).
Mendeliome v0.3569 KLF10 Zornitza Stark Classified gene: KLF10 as Red List (low evidence)
Mendeliome v0.3569 KLF10 Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence).
Mendeliome v0.3568 MYOZ2 Zornitza Stark Marked gene: MYOZ2 as ready
Mendeliome v0.3568 MYOZ2 Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence).
Mendeliome v0.3568 MYOZ2 Zornitza Stark Phenotypes for gene: MYOZ2 were changed from to Cardiomyopathy, hypertrophic, 16 MIM#613838
Mendeliome v0.3567 MYOZ2 Zornitza Stark Publications for gene: MYOZ2 were set to
Mendeliome v0.3566 MYOZ2 Zornitza Stark Mode of inheritance for gene: MYOZ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3565 MYOZ2 Zornitza Stark Classified gene: MYOZ2 as Red List (low evidence)
Mendeliome v0.3565 MYOZ2 Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence).
Mendeliome v0.3564 TRIM63 Zornitza Stark Marked gene: TRIM63 as ready
Mendeliome v0.3564 TRIM63 Zornitza Stark Added comment: Comment when marking as ready: Large case series published subsequent to ClinGen assessment.
Mendeliome v0.3564 TRIM63 Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence).
Mendeliome v0.3564 TRIM63 Zornitza Stark Classified gene: TRIM63 as Green List (high evidence)
Mendeliome v0.3564 TRIM63 Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence).
Mendeliome v0.3563 PDLIM3 Zornitza Stark Marked gene: PDLIM3 as ready
Mendeliome v0.3563 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Mendeliome v0.3563 PDLIM3 Zornitza Stark Classified gene: PDLIM3 as Red List (low evidence)
Mendeliome v0.3563 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Mendeliome v0.3562 PDLIM3 Zornitza Stark Tag SV/CNV tag was added to gene: PDLIM3.
Mendeliome v0.3562 OBSCN Zornitza Stark Marked gene: OBSCN as ready
Mendeliome v0.3562 OBSCN Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence).
Mendeliome v0.3562 OBSCN Zornitza Stark Classified gene: OBSCN as Red List (low evidence)
Mendeliome v0.3562 OBSCN Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Optic Atrophy v0.111 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246) to Autosomal dominant optic atrophy; Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246)
Optic Atrophy v0.110 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to 29181157; 26539208; 30252181; 30389403
Optic Atrophy v0.109 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.108 AFG3L2 Chern Lim reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32219868, 32600459, 32548275; Phenotypes: Autosomal dominant optic atrophy, Autosomal recessive spastic ataxia 5, MIM#614487, Autosomal dominant spinocerebellar ataxia 28, MIM#610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic Atrophy v0.108 AFG3L2 Chern Lim Deleted their review
Optic Atrophy v0.108 AFG3L2 Chern Lim reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32219868, 32600459, 32548275; Phenotypes: Optic atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.146 MYH6 Zornitza Stark Marked gene: MYH6 as ready
Hypertrophic cardiomyopathy v0.146 MYH6 Zornitza Stark Gene: myh6 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.146 MYH6 Zornitza Stark Phenotypes for gene: MYH6 were changed from to Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy v0.145 MYH6 Zornitza Stark Publications for gene: MYH6 were set to
Hypertrophic cardiomyopathy v0.144 MYH6 Zornitza Stark Mode of inheritance for gene: MYH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.143 MYH6 Zornitza Stark Classified gene: MYH6 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.143 MYH6 Zornitza Stark Gene: myh6 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.142 PLN Seb Lunke Marked gene: PLN as ready
Hypertrophic cardiomyopathy v0.142 PLN Seb Lunke Gene: pln has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.142 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Hypertrophic cardiomyopathy v0.142 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.142 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6, MIM# 600858 to Cardiomyopathy, hypertrophic 6, MIM# 600858
Hypertrophic cardiomyopathy v0.142 PLN Seb Lunke Phenotypes for gene: PLN were changed from to Cardiomyopathy, hypertrophic, 18 (MIM #613874)
Hypertrophic cardiomyopathy v0.141 PLN Seb Lunke Publications for gene: PLN were set to
Hypertrophic cardiomyopathy v0.141 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858
Hypertrophic cardiomyopathy v0.140 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to
Hypertrophic cardiomyopathy v0.139 PRKAG2 Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.138 PRKAG2 Zornitza Stark reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.138 PLN Seb Lunke Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v0.137 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Hypertrophic cardiomyopathy v0.137 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.137 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease (MIM#300257)
Hypertrophic cardiomyopathy v0.136 LAMP2 Zornitza Stark Publications for gene: LAMP2 were set to
Hypertrophic cardiomyopathy v0.135 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)
Hypertrophic cardiomyopathy v0.134 LAMP2 Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease (MIM#300257); Mode of inheritance: None
Hypertrophic cardiomyopathy v0.134 TTR Seb Lunke Marked gene: TTR as ready
Hypertrophic cardiomyopathy v0.134 TTR Seb Lunke Added comment: Comment when marking as ready: Can present predominantly with HCM
Hypertrophic cardiomyopathy v0.134 TTR Seb Lunke Gene: ttr has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.134 TTR Seb Lunke Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related MIM#105210
Hypertrophic cardiomyopathy v0.133 TTR Seb Lunke Publications for gene: TTR were set to
Hypertrophic cardiomyopathy v0.132 GLA Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease (MIM# 301500) to Fabry disease (MIM# 301500)
Hypertrophic cardiomyopathy v0.131 GLA Zornitza Stark Marked gene: GLA as ready
Hypertrophic cardiomyopathy v0.131 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.131 TTR Seb Lunke Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.131 GLA Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease (MIM# 301500)
Hypertrophic cardiomyopathy v0.130 GLA Zornitza Stark Publications for gene: GLA were set to
Hypertrophic cardiomyopathy v0.130 GLA Zornitza Stark Mode of inheritance for gene: GLA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v0.129 GLA Zornitza Stark Mode of inheritance for gene: GLA 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)
Hypertrophic cardiomyopathy v0.128 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v0.128 GAA Seb Lunke Marked gene: GAA as ready
Hypertrophic cardiomyopathy v0.128 GAA Seb Lunke Gene: gaa has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.128 GAA Seb Lunke Classified gene: GAA as Red List (low evidence)
Hypertrophic cardiomyopathy v0.128 GAA Seb Lunke Gene: gaa has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.127 FXN Zornitza Stark Marked gene: FXN as ready
Hypertrophic cardiomyopathy v0.127 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.127 FXN Zornitza Stark Phenotypes for gene: FXN were changed from to Friedreich ataxia MIM#229300
Hypertrophic cardiomyopathy v0.126 FXN Zornitza Stark Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 SLC25A4 Paul De Fazio reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: 16155110; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.125 FXN Zornitza Stark Classified gene: FXN as Red List (low evidence)
Hypertrophic cardiomyopathy v0.125 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.124 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Hypertrophic cardiomyopathy v0.124 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.124 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283
Hypertrophic cardiomyopathy v0.124 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283
Hypertrophic cardiomyopathy v0.123 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to
Hypertrophic cardiomyopathy v0.122 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.121 MT-TI Seb Lunke Marked gene: MT-TI as ready
Hypertrophic cardiomyopathy v0.121 MT-TI Seb Lunke Added comment: Comment when marking as ready: NOTE: Mitochondrial DNA gene not tractable by many commonly used genomics methods.
Hypertrophic cardiomyopathy v0.121 MT-TI Seb Lunke Gene: mt-ti has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.121 SLC25A4 Zornitza Stark Classified gene: SLC25A4 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.121 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.120 MT-TI Seb Lunke Classified gene: MT-TI as Green List (high evidence)
Hypertrophic cardiomyopathy v0.120 MT-TI Seb Lunke Gene: mt-ti has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.119 MT-TI Seb Lunke Tag mtDNA tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v0.119 TTN Zornitza Stark Marked gene: TTN as ready
Hypertrophic cardiomyopathy v0.119 TTN Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.119 TTN Zornitza Stark Phenotypes for gene: TTN were changed from to Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy v0.118 TTN Zornitza Stark Publications for gene: TTN were set to
Hypertrophic cardiomyopathy v0.117 TTN Zornitza Stark Classified gene: TTN as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.117 TTN Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.116 TTN Zornitza Stark Mode of inheritance for gene: TTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.115 FHOD3 Seb Lunke Marked gene: FHOD3 as ready
Hypertrophic cardiomyopathy v0.115 FHOD3 Seb Lunke Gene: fhod3 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.115 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from Noonan syndrome 1 MIM# 163950 to Noonan syndrome 1 MIM# 163950
Hypertrophic cardiomyopathy v0.114 FHOD3 Seb Lunke Tag SV/CNV tag was added to gene: FHOD3.
Hypertrophic cardiomyopathy v0.114 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Hypertrophic cardiomyopathy v0.114 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.114 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to Noonan syndrome 1 MIM# 163950
Hypertrophic cardiomyopathy v0.114 FHOD3 Seb Lunke Classified gene: FHOD3 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.114 FHOD3 Seb Lunke Gene: fhod3 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.113 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.112 PTPN11 Zornitza Stark Classified gene: PTPN11 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.112 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Mendeliome v0.3561 OBSCN Paul De Fazio gene: OBSCN was added
gene: OBSCN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914
Phenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy
Review for gene: OBSCN was set to RED
gene: OBSCN was marked as current diagnostic
Added comment: Limited evidence by ClinGen working group.

Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).

No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically.
Sources: Literature
Hypertrophic cardiomyopathy v0.111 OBSCN Paul De Fazio Deleted their comment
Hypertrophic cardiomyopathy v0.111 OBSCN Paul De Fazio commented on gene: OBSCN: Limited evidence by ClinGen working group.

Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).

No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically.
Hypertrophic cardiomyopathy v0.111 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Hypertrophic cardiomyopathy v0.111 RAF1 Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.111 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from to Cardiomyopathy, dilated, 1NN MIM#615916; Noonan syndrome 5 MIM#611553
Hypertrophic cardiomyopathy v0.110 RAF1 Zornitza Stark Publications for gene: RAF1 were set to
Hypertrophic cardiomyopathy v0.109 RAF1 Zornitza Stark Mode of inheritance for gene: RAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.109 RAF1 Zornitza Stark Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.108 RAF1 Zornitza Stark Classified gene: RAF1 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.108 RAF1 Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence).
Mendeliome v0.3561 PDLIM3 Ain Roesley edited their review of gene: PDLIM3: Changed rating: RED
Hypertrophic cardiomyopathy v0.107 OBSCN Zornitza Stark Marked gene: OBSCN as ready
Hypertrophic cardiomyopathy v0.107 OBSCN Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.107 OBSCN Zornitza Stark Classified gene: OBSCN as Red List (low evidence)
Hypertrophic cardiomyopathy v0.107 OBSCN Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence).
Mendeliome v0.3561 PDLIM3 Ain Roesley gene: PDLIM3 was added
gene: PDLIM3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDLIM3 were set to 30681346; 26455666; 20801532
Phenotypes for gene: PDLIM3 were set to Hypertrophic cardiomyopathy
Penetrance for gene: PDLIM3 were set to unknown
Added comment: PMID: 30681346;
LIMITED by ClinGen working group

PMID: 26455666;
1x proband with multi-exon deletion

PMID: 20801532;
1x proband het for a missense
Sources: Literature
Hypertrophic cardiomyopathy v0.106 PDLIM3 Zornitza Stark Marked gene: PDLIM3 as ready
Hypertrophic cardiomyopathy v0.106 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.106 PDLIM3 Zornitza Stark Classified gene: PDLIM3 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.106 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Mendeliome v0.3561 TRIM63 Ain Roesley gene: TRIM63 was added
gene: TRIM63 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM63 were set to 30681346; 32451364
Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy
Penetrance for gene: TRIM63 were set to unknown
Review for gene: TRIM63 was set to GREEN
Added comment: PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- segregated in 3 families
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Added comment: Comment when marking as ready: Gene is associated with CPVT phenotype.
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Classified gene: RYR2 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Classified gene: RYR2 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Gene: ryr2 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.104 MYPN Zornitza Stark Marked gene: MYPN as ready
Hypertrophic cardiomyopathy v0.104 MYPN Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.104 MYPN Zornitza Stark Classified gene: MYPN as Red List (low evidence)
Hypertrophic cardiomyopathy v0.104 MYPN Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.103 TRIM63 Zornitza Stark Marked gene: TRIM63 as ready
Hypertrophic cardiomyopathy v0.103 TRIM63 Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.103 TRIM63 Zornitza Stark Classified gene: TRIM63 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.103 TRIM63 Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence).
Mendeliome v0.3561 MYOZ2 Paul De Fazio reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: None; Publications: 17347475, 18591919, 28296734, 30681346, 22987565; Phenotypes: Cardiomyopathy, hypertrophic, 16 MIM#613838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.102 MYOZ2 Zornitza Stark Marked gene: MYOZ2 as ready
Hypertrophic cardiomyopathy v0.102 MYOZ2 Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.102 MYOZ2 Zornitza Stark Phenotypes for gene: MYOZ2 were changed from to Cardiomyopathy, hypertrophic, 16 MIM#613838
Hypertrophic cardiomyopathy v0.101 MYOZ2 Zornitza Stark Publications for gene: MYOZ2 were set to
Hypertrophic cardiomyopathy v0.100 MYOZ2 Zornitza Stark Mode of inheritance for gene: MYOZ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.99 MYOZ2 Zornitza Stark Classified gene: MYOZ2 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.99 MYOZ2 Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence).
Mendeliome v0.3561 KLF10 Paul De Fazio edited their review of gene: KLF10: Changed rating: RED
Mendeliome v0.3561 KLF10 Paul De Fazio gene: KLF10 was added
gene: KLF10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF10 were set to 22234868
Phenotypes for gene: KLF10 were set to HCM
gene: KLF10 was marked as current diagnostic
Added comment: Curated by ClinGen and rated as limited evidence.

Misssense mutations reported in six unrelated individuals patients (two males/four females), with family history of HCM only reported for one individual (PMID: 22234868). No further reports in the literature.
Sources: Literature
Hypertrophic cardiomyopathy v0.98 JPH2 Zornitza Stark Marked gene: JPH2 as ready
Hypertrophic cardiomyopathy v0.98 JPH2 Zornitza Stark Added comment: Comment when marking as ready: Note one of the variants p.Gly505Ser is present in >500 individuals in gnomad, including 7 homozygotes.
Hypertrophic cardiomyopathy v0.98 JPH2 Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.98 JPH2 Zornitza Stark Phenotypes for gene: JPH2 were changed from to Cardiomyopathy, hypertrophic, MIM#613873
Hypertrophic cardiomyopathy v0.97 JPH2 Zornitza Stark Publications for gene: JPH2 were set to
Hypertrophic cardiomyopathy v0.96 JPH2 Zornitza Stark Mode of inheritance for gene: JPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.95 JPH2 Zornitza Stark Classified gene: JPH2 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.95 JPH2 Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.94 KLF10 Zornitza Stark Marked gene: KLF10 as ready
Hypertrophic cardiomyopathy v0.94 KLF10 Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.94 KLF10 Zornitza Stark Classified gene: KLF10 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.94 KLF10 Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.93 TNNC1 Zornitza Stark Marked gene: TNNC1 as ready
Hypertrophic cardiomyopathy v0.93 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.93 TNNC1 Zornitza Stark Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, hypertrophic, 13 (MIM# 613243)
Hypertrophic cardiomyopathy v0.92 TNNC1 Zornitza Stark Publications for gene: TNNC1 were set to
Hypertrophic cardiomyopathy v0.91 TNNC1 Zornitza Stark Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.90 TNNC1 Zornitza Stark Classified gene: TNNC1 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.90 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.58 ATP2A1 Bryony Thompson Deleted their review
Hypertrophic cardiomyopathy v0.89 PRKAG2 Ain Roesley reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: PRKAG2-cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v0.89 PLN Ain Roesley reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v0.89 LAMP2 Ain Roesley reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; 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)
Hypertrophic cardiomyopathy v0.89 TTR Paul De Fazio reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: None; Publications: 28475415, 31554435; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.89 GLA Ain Roesley reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v0.89 GAA Paul De Fazio edited their review of gene: GAA: Set current diagnostic: yes
Hypertrophic cardiomyopathy v0.89 GAA Paul De Fazio reviewed gene: GAA: Rating: RED; Mode of pathogenicity: None; Publications: 27142047; Phenotypes: Glycogen storage disease II MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 FXN Paul De Fazio reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MIM#229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Classified gene: FLAD1 as Amber List (moderate evidence)
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.21 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLAD1 were set to 25058219; 27259049; 16643857; 20060505
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
Review for gene: FLAD1 was set to AMBER
Added comment: Classified as moderate by ClinGen. The classification for FLAD1 was based on eight cases from the literature harbouring mostly frameshift variants in exons 1 or 2, biochemical studies and in vitro studies. Many of the frameshift variants in FLAD1 were predicted to be loss-of-function. However, Olsen et al. noted that homozygous loss-of-function variants in FLAD1 would be unlikely as FLAD1 encodes the only known enzyme to catalyze the synthesis of flavin adenine dinucleotide (FAD) from flavin mononucleotide (FMN), an essential metabolic process. This led the authors to discover previously unknown isoforms that were residually expressed in these patients. Therefore, ClinGen downgraded points for each of these variants to the default points for non-loss-of-function variants, resulting in the 'Moderate' assessment.
Sources: Expert list
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.19 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 31399326; 25125611; 25393721
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Review for gene: ECHS1 was set to GREEN
Added comment: Assessed as Definitive by the ClinGen FAOD working group.
Sources: Expert list
Fatty Acid Oxidation Defects v0.18 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Fatty Acid Oxidation Defects v0.18 ACAT1 Zornitza Stark Added comment: Comment when marking as ready: Definitive by ClinGen.
Fatty Acid Oxidation Defects v0.18 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.18 ACADS Zornitza Stark Marked gene: ACADS as ready
Fatty Acid Oxidation Defects v0.18 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.18 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Fatty Acid Oxidation Defects v0.17 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.16 ACADS Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.16 ACADM Zornitza Stark Marked gene: ACADM as ready
Fatty Acid Oxidation Defects v0.16 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.16 ACADM Zornitza Stark Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Fatty Acid Oxidation Defects v0.15 ACADM Zornitza Stark Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.14 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 SLC25A4 Paul De Fazio changed review comment from: Associated with mitochondrial DNA depletion syndrome for which cardiomyopathy is a feature. Not associated with isolated HCM.; to: Associated with mitochondrial DNA depletion syndrome for which HCM is a feature. Not associated with isolated HCM.
Hypertrophic cardiomyopathy v0.89 SLC25A4 Paul De Fazio reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: 16155110; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.89 MT-TI Paul De Fazio changed review comment from: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion

PMID: 23332932
Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.

Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.
Sources: Literature; to: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion, other mtDNA abnormalities were also identified in this family.

PMID: 23332932
Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.

Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.
Sources: Literature
Hypertrophic cardiomyopathy v0.89 MT-TI Paul De Fazio edited their review of gene: MT-TI: Changed publications: 12767666, 30025578, 29481798, 23332932
Hypertrophic cardiomyopathy v0.89 MT-TI Paul De Fazio changed review comment from: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion

Seems to be an association with HCM but also DCM and other mito-related phenotypes?
Sources: Literature; to: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion

PMID: 23332932
Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.

Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.
Sources: Literature
Hypertrophic cardiomyopathy v0.89 MT-TI Paul De Fazio gene: MT-TI was added
gene: MT-TI was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Publications for gene: MT-TI were set to 12767666; 30025578; 29481798
Phenotypes for gene: MT-TI were set to Hypertrophic cardiomyopathy
Review for gene: MT-TI was set to AMBER
gene: MT-TI was marked as current diagnostic
Added comment: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion

Seems to be an association with HCM but also DCM and other mito-related phenotypes?
Sources: Literature
Hypertrophic cardiomyopathy v0.89 TTN Dean Phelan reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27625337, 31628103; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3561 KCNJ1 Elena Savva reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28630040; Phenotypes: Bartter syndrome, type 2, 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 FHOD3 Ain Roesley changed review comment from: PMID: 32335906;
Deletion of exon 15-16 in 3 families

PMID: 31742804
- 7 affecteds in a 3-generation family, het for p.(Ser527del)
- 1 genotype positive, phenotype negative family member
- 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects

PMID: 30442288;
- 60 HCM patients with no other variants in other sarcomeric genes
- segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree)
Sources: Literature; to: PMID: 32335906;
Deletion of exon 15-16 in 3 families

PMID: 31742804
- 7 affecteds in a 3-generation family, het for p.(Ser527del)
- 1 genotype positive, phenotype negative family member
- 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects

PMID: 30442288;
- 60 HCM probands with no other variants in other sarcomeric genes
- segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree)
Sources: Literature
Hypertrophic cardiomyopathy v0.89 FHOD3 Ain Roesley gene: FHOD3 was added
gene: FHOD3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FHOD3 were set to 32335906; 31742804; 30442288
Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy
Penetrance for gene: FHOD3 were set to unknown
Review for gene: FHOD3 was set to GREEN
Added comment: PMID: 32335906;
Deletion of exon 15-16 in 3 families

PMID: 31742804
- 7 affecteds in a 3-generation family, het for p.(Ser527del)
- 1 genotype positive, phenotype negative family member
- 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects

PMID: 30442288;
- 60 HCM patients with no other variants in other sarcomeric genes
- segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree)
Sources: Literature
Hair disorders v0.18 RPL21 Bryony Thompson Marked gene: RPL21 as ready
Hair disorders v0.18 RPL21 Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence).
Hair disorders v0.18 RPL21 Bryony Thompson Classified gene: RPL21 as Red List (low evidence)
Hair disorders v0.18 RPL21 Bryony Thompson Added comment: Comment on list classification: No supporting publications since the original in 2011.
Hair disorders v0.18 RPL21 Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence).
Hair disorders v0.17 RPL21 Bryony Thompson gene: RPL21 was added
gene: RPL21 was added to Hair disorders. Sources: NHS GMS
Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL21 were set to 21412954
Phenotypes for gene: RPL21 were set to Hypotrichosis 12 MIM#615885
Review for gene: RPL21 was set to AMBER
Added comment: 2 unrelated Chinese families with the same missense (R32Q). Haplotype analysis revealed no founder effect in the 2 families. No functional assays were performed.
Sources: NHS GMS
Hypertrophic cardiomyopathy v0.89 PTPN11 Paul De Fazio reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 1 MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hair disorders v0.16 DSC3 Bryony Thompson Marked gene: DSC3 as ready
Hair disorders v0.16 DSC3 Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.16 DSC3 Bryony Thompson Classified gene: DSC3 as Amber List (moderate evidence)
Hair disorders v0.16 DSC3 Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.15 DSC3 Bryony Thompson gene: DSC3 was added
gene: DSC3 was added to Hair disorders. Sources: NHS GMS
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC3 were set to 19765682; 31790667; 18682494
Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles MIM#613102
Review for gene: DSC3 was set to AMBER
Added comment: 2 unrelated cases reported with homozygous nonsense mutations. A conditional null allele in a mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss.
Sources: NHS GMS
Hypertrophic cardiomyopathy v0.89 RAF1 Paul De Fazio reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: None; Publications: 24777450; Phenotypes: Cardiomyopathy, dilated, 1NN MIM#615916, Noonan syndrome 5 MIM#611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hair disorders v0.14 SNRPE Bryony Thompson Marked gene: SNRPE as ready
Hair disorders v0.14 SNRPE Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence).
Hair disorders v0.14 SNRPE Bryony Thompson Classified gene: SNRPE as Amber List (moderate evidence)
Hair disorders v0.14 SNRPE Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence).
Hair disorders v0.13 SNRPE Bryony Thompson gene: SNRPE was added
gene: SNRPE was added to Hair disorders. Sources: NHS GMS
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNRPE were set to 23246290
Phenotypes for gene: SNRPE were set to Hypotrichosis 11 MIM#615059
Review for gene: SNRPE was set to AMBER
Added comment: 3 unrelated families with 2 different variants (segregation of Met1? variant in 2 families), and supporting in vitro functional assays.
Sources: NHS GMS
Hair disorders v0.12 TGM3 Bryony Thompson Marked gene: TGM3 as ready
Hair disorders v0.12 TGM3 Bryony Thompson Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.12 TGM3 Bryony Thompson Classified gene: TGM3 as Amber List (moderate evidence)
Hair disorders v0.12 TGM3 Bryony Thompson Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.11 TGM3 Bryony Thompson reviewed gene: TGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27866708, 26194162; Phenotypes: Uncombable hair syndrome 2 MIM#617251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.11 TCHH Bryony Thompson Marked gene: TCHH as ready
Hair disorders v0.11 TCHH Bryony Thompson Gene: tchh has been classified as Red List (Low Evidence).
Hair disorders v0.11 TCHH Bryony Thompson reviewed gene: TCHH: Rating: RED; Mode of pathogenicity: None; Publications: 27866708; Phenotypes: Uncombable hair syndrome 3 MIM#617252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 OBSCN Paul De Fazio gene: OBSCN was added
gene: OBSCN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914
Phenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy
Review for gene: OBSCN was set to RED
gene: OBSCN was marked as current diagnostic
Added comment: Limited evidence by ClinGen working group.

Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).

No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically.
Sources: Literature
Hair disorders v0.11 KRT74 Bryony Thompson Deleted their review
Hair disorders v0.11 BCS1L Bryony Thompson Marked gene: BCS1L as ready
Hair disorders v0.11 BCS1L Bryony Thompson Gene: bcs1l has been classified as Green List (High Evidence).
Hair disorders v0.11 LSS Bryony Thompson Marked gene: LSS as ready
Hair disorders v0.11 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Hair disorders v0.11 LSS Bryony Thompson Classified gene: LSS as Green List (high evidence)
Hair disorders v0.11 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Hair disorders v0.9 LSS Bryony Thompson gene: LSS was added
gene: LSS was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3561 KRT71 Bryony Thompson Marked gene: KRT71 as ready
Mendeliome v0.3561 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3561 KRT71 Bryony Thompson Classified gene: KRT71 as Amber List (moderate evidence)
Mendeliome v0.3561 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3560 KRT71 Bryony Thompson gene: KRT71 was added
gene: KRT71 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT71 were set to 14632181; 22592156; 19713490
Phenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896
Review for gene: KRT71 was set to AMBER
Added comment: A single family with 3 affected members of a 3-generation Japanese family segregating a missense variant (F141C) with autosomal dominant woolly hair/hypotrichosis, with supporting functional assays and animal models.
Sources: Literature
Hair disorders v0.8 KRT71 Bryony Thompson Marked gene: KRT71 as ready
Hair disorders v0.8 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.8 KRT71 Bryony Thompson Publications for gene: KRT71 were set to 31332722
Hair disorders v0.7 KRT71 Bryony Thompson Classified gene: KRT71 as Amber List (moderate evidence)
Hair disorders v0.7 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.6 KRT71 Bryony Thompson reviewed gene: KRT71: Rating: AMBER; Mode of pathogenicity: None; Publications: 14632181, 22592156, 19713490; Phenotypes: Hypotrichosis 13 MIM#615896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hair disorders v0.6 GTF2H5 Bryony Thompson Marked gene: GTF2H5 as ready
Hair disorders v0.6 GTF2H5 Bryony Thompson Gene: gtf2h5 has been classified as Green List (High Evidence).
Hair disorders v0.6 GTF2H5 Bryony Thompson Publications for gene: GTF2H5 were set to 31332722
Hair disorders v0.5 GTF2H5 Bryony Thompson reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28833524, 15220921, 8213812, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive MIM#616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 PDLIM3 Ain Roesley gene: PDLIM3 was added
gene: PDLIM3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDLIM3 were set to 30681346; 26455666; 20801532
Phenotypes for gene: PDLIM3 were set to Hypertrophic cardiomyopathy
Penetrance for gene: PDLIM3 were set to unknown
Review for gene: PDLIM3 was set to RED
Added comment: PMID: 30681346;
LIMITED by ClinGen working group

PMID: 26455666;
1x proband with multi-exon deletion

PMID: 20801532;
1x proband het for a missense
Sources: Literature
Hypertrophic cardiomyopathy v0.89 RYR2 Paul De Fazio gene: RYR2 was added
gene: RYR2 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RYR2 were set to 30681346; 26573135; 22515980; 26656175; 30835254
Phenotypes for gene: RYR2 were set to Hypertrophic cardiomyopathy
Review for gene: RYR2 was set to AMBER
gene: RYR2 was marked as current diagnostic
Added comment: Limited evidence by ClinGen working group.

Via Clingen: 8 probands with HCM across 4 publications. A mouse model lends support to pathogenicity.

No additional reports in association with HCM found.
Sources: Literature
Hair disorders v0.5 RNF113A Bryony Thompson Marked gene: RNF113A as ready
Hair disorders v0.5 RNF113A Bryony Thompson Gene: rnf113a has been classified as Green List (High Evidence).
Hair disorders v0.5 TARS Bryony Thompson Marked gene: TARS as ready
Hair disorders v0.5 TARS Bryony Thompson Gene: tars has been classified as Amber List (Moderate Evidence).
Hair disorders v0.5 TARS Bryony Thompson Publications for gene: TARS were set to 31332722
Mendeliome v0.3559 ACADL Zornitza Stark Tag disputed tag was added to gene: ACADL.
Hair disorders v0.4 TARS Bryony Thompson Classified gene: TARS as Amber List (moderate evidence)
Hair disorders v0.4 TARS Bryony Thompson Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3559 ACADL Zornitza Stark Marked gene: ACADL as ready
Mendeliome v0.3559 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Mendeliome v0.3559 ACADL Zornitza Stark Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction
Mendeliome v0.3558 ACADL Zornitza Stark Publications for gene: ACADL were set to
Mendeliome v0.3557 ACADL Zornitza Stark Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3556 ACADL Zornitza Stark Classified gene: ACADL as Red List (low evidence)
Mendeliome v0.3556 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Mendeliome v0.3555 ACADL Zornitza Stark reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: 24591516, 31399326; Phenotypes: Pulmonary surfactant dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Tag disputed tag was added to gene: ACADL.
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Marked gene: ACADL as ready
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction
Hypertrophic cardiomyopathy v0.89 MYPN Ain Roesley gene: MYPN was added
gene: MYPN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYPN were set to 30681346; 20801532; 22286171
Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic, 22 (MIM# 615248)
Penetrance for gene: MYPN were set to unknown
Review for gene: MYPN was set to RED
Added comment: PMID: 30681346;
LIMITED by ClinGen working group.

Extract from ClinGen's curation:
Variants in this gene have been reported in at least 8 probands in 2 publications (PMIDs: 20801532, 22286171). This gene disease association is supported by expression studies, functional assays, and animal models. In summary, there is limited evidence to support this gene-disease relationship
Sources: Literature
Fatty Acid Oxidation Defects v0.13 ACADL Zornitza Stark Publications for gene: ACADL were set to
Fatty Acid Oxidation Defects v0.12 ACADL Zornitza Stark Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.11 ACADL Zornitza Stark Classified gene: ACADL as Red List (low evidence)
Fatty Acid Oxidation Defects v0.11 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.10 ACADL Zornitza Stark reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: 24591516, 31399326; Phenotypes: Pulmonary surfactant dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 TRIM63 Ain Roesley changed review comment from: PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature; to: PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- segregated in 3 families
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature
Fatty Acid Oxidation Defects v0.10 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Fatty Acid Oxidation Defects v0.10 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.10 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Fatty Acid Oxidation Defects v0.9 ACAD9 Zornitza Stark Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.8 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
Hypertrophic cardiomyopathy v0.89 TRIM63 Ain Roesley gene: TRIM63 was added
gene: TRIM63 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM63 were set to 30681346; 32451364
Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy
Penetrance for gene: TRIM63 were set to unknown
Review for gene: TRIM63 was set to GREEN
Added comment: PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature
Hypertrophic cardiomyopathy v0.89 MYOZ2 Paul De Fazio changed review comment from: Limited evidence by ClinGen working group.

Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found.

A review of the literature finds no other reports.; to: Limited evidence by ClinGen working group.

Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. Studies in mice of two of these variants showed that they developed cardiac hypertrophy with preserved systolic function.

A review of the literature finds no other reports.
Hypertrophic cardiomyopathy v0.89 MYOZ2 Paul De Fazio edited their review of gene: MYOZ2: Changed publications: 17347475, 18591919, 28296734, 30681346, 22987565
Hypertrophic cardiomyopathy v0.89 MYOZ2 Paul De Fazio edited their review of gene: MYOZ2: Changed publications: 17347475, 18591919, 11114196, 30681346
Hypertrophic cardiomyopathy v0.89 MYOZ2 Paul De Fazio reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: None; Publications: 17347475, 18591919, 11114196, 11114196, 30681346; Phenotypes: Cardiomyopathy, hypertrophic, 16 MIM#613838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hair disorders v0.3 RNF113A Bryony Thompson reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25612912, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive MIM##300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.452 TWNK Zornitza Stark Marked gene: TWNK as ready
Mitochondrial disease v0.452 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Mitochondrial disease v0.452 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Mitochondrial disease v0.451 TWNK Zornitza Stark Publications for gene: TWNK were set to
Mitochondrial disease v0.450 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.449 TWNK Zornitza Stark reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3555 TWNK Zornitza Stark Marked gene: TWNK as ready
Mendeliome v0.3555 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Mendeliome v0.3555 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Hypertrophic cardiomyopathy v0.89 JPH2 Paul De Fazio reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.3554 TWNK Zornitza Stark Publications for gene: TWNK were set to
Hypertrophic cardiomyopathy v0.89 KLF10 Naomi Baker gene: KLF10 was added
gene: KLF10 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: KLF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF10 were set to PMID: 22234868
Phenotypes for gene: KLF10 were set to HCM
Review for gene: KLF10 was set to RED
Added comment: Curated by ClinGen and rated as limited evidence.

Misssense mutations reported in six unrelated individuals patients (two males/four females), with family history of HCM only reported for one individual (PMID: 22234868). No further reports in the literature.
Sources: Literature
Mendeliome v0.3553 TWNK Zornitza Stark Mode of pathogenicity for gene: TWNK was changed from to Other
Mendeliome v0.3552 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3551 TWNK Elena Savva reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 TNNC1 Ain Roesley reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 11385718, 8572189, 21262074, 22815480, 26779504; Phenotypes: Cardiomyopathy, hypertrophic, 13 (MIM# 613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Bone Marrow Failure v0.77 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Bone Marrow Failure v0.76 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.75 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.20 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Mendeliome v0.3551 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Mendeliome v0.3551 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Mendeliome v0.3551 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Mendeliome v0.3550 UBE2T Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888
Chromosome Breakage Disorders v0.20 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Chromosome Breakage Disorders v0.20 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.19 UBE2T Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888
Bone Marrow Failure v0.75 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Bone Marrow Failure v0.75 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Bone Marrow Failure v0.75 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Bone Marrow Failure v0.74 UBE2T Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888; Changed phenotypes: Fanconi anemia, complementation group T, MIM# 616435
Mendeliome v0.3550 P2RX2 Zornitza Stark Marked gene: P2RX2 as ready
Mendeliome v0.3550 P2RX2 Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence).
Mendeliome v0.3550 P2RX2 Zornitza Stark Phenotypes for gene: P2RX2 were changed from to Deafness, autosomal dominant 41, MIM# 608224
Mendeliome v0.3549 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to
Mendeliome v0.3548 P2RX2 Zornitza Stark Mode of inheritance for gene: P2RX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3547 P2RX2 Zornitza Stark reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345450, 24211385; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3547 KCNQ4 Zornitza Stark Marked gene: KCNQ4 as ready
Mendeliome v0.3547 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence).
Mendeliome v0.3547 KCNQ4 Zornitza Stark Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101
Mendeliome v0.3546 KCNQ4 Zornitza Stark Publications for gene: KCNQ4 were set to
Mendeliome v0.3545 KCNQ4 Zornitza Stark Mode of inheritance for gene: KCNQ4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3544 KCNQ4 Zornitza Stark reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.372 KCNQ4 Zornitza Stark Marked gene: KCNQ4 as ready
Deafness_IsolatedAndComplex v0.372 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.372 KCNQ4 Zornitza Stark Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101
Deafness_IsolatedAndComplex v0.371 KCNQ4 Zornitza Stark Publications for gene: KCNQ4 were set to
Deafness_IsolatedAndComplex v0.370 KCNQ4 Zornitza Stark Mode of inheritance for gene: KCNQ4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.369 KCNQ4 Zornitza Stark reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRB were set to 12709789; 25446085; 28604960
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158
Cardiomyopathy_Paediatric v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157
Cardiomyopathy_Paediatric v0.0 TMPO Zornitza Stark gene: TMPO was added
gene: TMPO was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMPO were set to Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia 1
Cardiomyopathy_Paediatric v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCAP were set to 21530252; 23479141
Phenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N
Cardiomyopathy_Paediatric v0.0 TACO1 Zornitza Stark gene: TACO1 was added
gene: TACO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: TAB2 was set to Unknown
Cardiomyopathy_Paediatric v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,Expert Review Red
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 19366998; 19443465; 21649642; 21548021; 17704776
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Cardiomyopathy_Paediatric v0.0 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.0 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Cardiomyopathy_Paediatric v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Victorian Clinical Genetics Services,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392
Cardiomyopathy_Paediatric v0.0 NDUFA9 Zornitza Stark gene: NDUFA9 was added
gene: NDUFA9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA9 were set to 28671271; 22114105
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Cardiomyopathy_Paediatric v0.0 NDUFA6 Zornitza Stark gene: NDUFA6 was added
gene: NDUFA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253
Cardiomyopathy_Paediatric v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM7 were set to 29353736
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838
Cardiomyopathy_Paediatric v0.0 LAMA4 Zornitza Stark gene: LAMA4 was added
gene: LAMA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.0 ILK Zornitza Stark gene: ILK was added
gene: ILK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: ILK was set to Unknown
Cardiomyopathy_Paediatric v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNS were set to 27604308
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
Cardiomyopathy_Paediatric v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, 149400
Cardiomyopathy_Paediatric v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH,MetBioNet
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 27604308
Phenotypes for gene: GBE1 were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen storage disease IV, 232500; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; DCM; Polyglucosan body disease, adult form, 263570; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; Hypertrophic-hypocontractile cardiomyopathy; Glycogen Storage Disease
Cardiomyopathy_Paediatric v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNS were set to 27604308
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis Type IVA; MPS IVA, Morquio A disease (MPS IV, Morquio disease); MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis IVA, 253000
Cardiomyopathy_Paediatric v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 24816252; 27604308
Phenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIC; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); HCM; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C
Cardiomyopathy_Paediatric v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27604308
Phenotypes for gene: ETFB were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); HCM; Glutaric acidemia IIB; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
Cardiomyopathy_Paediatric v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 27604308
Phenotypes for gene: ETFA were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIA; Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); HCM; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
Cardiomyopathy_Paediatric v0.0 DTNA Zornitza Stark gene: DTNA was added
gene: DTNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects,
Cardiomyopathy_Paediatric v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 27604308
Phenotypes for gene: DHCR7 were set to Cataracts; Intellectual disability; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities
Cardiomyopathy_Paediatric v0.0 CYC1 Zornitza Stark gene: CYC1 was added
gene: CYC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453
Cardiomyopathy_Paediatric v0.0 CTF1 Zornitza Stark gene: CTF1 was added
gene: CTF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 24816252; 27604308
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Cardiomyopathy_Paediatric v0.0 COX6A1 Zornitza Stark gene: COX6A1 was added
gene: COX6A1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Cardiomyopathy_Paediatric v0.0 COA7 Zornitza Stark gene: COA7 was added
gene: COA7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 29718187; 27683825
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Cardiomyopathy_Paediatric v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: BTK was set to Unknown
Cardiomyopathy_Paediatric v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000
Cardiomyopathy_Paediatric v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 27604308
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Cardiomyopathy_Paediatric v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 ANKRD1 Zornitza Stark gene: ANKRD1 was added
gene: ANKRD1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD1 were set to Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 UQCC2 Zornitza Stark gene: UQCC2 was added
gene: UQCC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC2 were set to 28804536; 24385928
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824
Cardiomyopathy_Paediatric v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 27604308
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III
Cardiomyopathy_Paediatric v0.0 RASA2 Zornitza Stark gene: RASA2 was added
gene: RASA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Amber
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA2 were set to PMID: 25049390
Phenotypes for gene: RASA2 were set to Noonan syndrome?
Cardiomyopathy_Paediatric v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 NDUFB8 Zornitza Stark gene: NDUFB8 was added
gene: NDUFB8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB8 were set to 29429571; 27290639
Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252
Cardiomyopathy_Paediatric v0.0 NDUFA4 Zornitza Stark gene: NDUFA4 was added
gene: NDUFA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA4 were set to 23746447, 29636225
Phenotypes for gene: NDUFA4 were set to No OMIM phenotype
Cardiomyopathy_Paediatric v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 27604308
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB
Cardiomyopathy_Paediatric v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 MT-TI Zornitza Stark gene: MT-TI was added
gene: MT-TI was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Cardiomyopathy_Paediatric v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber,MetBioNet
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308
Phenotypes for gene: MMACHC were set to Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; DCM; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Hypertrophic-hypocontractile cardiomyopathy
Cardiomyopathy_Paediatric v0.0 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C
Cardiomyopathy_Paediatric v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGSNAT were set to 27604308; 21048366
Phenotypes for gene: HGSNAT were set to MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis Pigmentosa 73
Cardiomyopathy_Paediatric v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 27604308
Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hemochromatosis; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); DCM; Haemochromatosis; Iron overload, liver disease, diabetes, hypogonadism; HCM; Hypertrophic-hypocontractile cardiomyopathy
Cardiomyopathy_Paediatric v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Amber,NHS GMS,South West GLH
Mode of inheritance for gene: GLA 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: GLA were set to 27604308
Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry disease, 301500; Fabry Disease; HCM; syndromic HCM; Limb pain, angiokeratom; Fabry disease; HCM is a late complication in adults, also found in female carriers
Cardiomyopathy_Paediatric v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241
Cardiomyopathy_Paediatric v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 FASTKD2 Zornitza Stark gene: FASTKD2 was added
gene: FASTKD2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 EYA4 Zornitza Stark gene: EYA4 was added
gene: EYA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Amber
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA4 were set to Cardiomyopathy, dilated, 1J
Cardiomyopathy_Paediatric v0.0 CRYAB Zornitza Stark gene: CRYAB was added
gene: CRYAB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were set to Cardiomyopathy, dilated, 1II,; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869
Cardiomyopathy_Paediatric v0.0 COX7B Zornitza Stark gene: COX7B was added
gene: COX7B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887
Cardiomyopathy_Paediatric v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 VCL Zornitza Stark gene: VCL was added
gene: VCL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W
Cardiomyopathy_Paediatric v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 31118583; 31131842; 31111153; 30878017; 30120737
Phenotypes for gene: TTR were set to syndromic HCM
Cardiomyopathy_Paediatric v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739
Phenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G
Cardiomyopathy_Paediatric v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSFM were set to 27604308
Phenotypes for gene: TSFM were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 3, 610505; Combined oxidative phosphorylation deficiency 3 610505
Cardiomyopathy_Paediatric v0.0 TPM1 Zornitza Stark gene: TPM1 was added
gene: TPM1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9,; Cardiomyopathy, dilated, 1Y; Cardiomyopathy, familial hypertrophic, 3
Cardiomyopathy_Paediatric v0.0 TNNT2 Zornitza Stark gene: TNNT2 was added
gene: TNNT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6,
Cardiomyopathy_Paediatric v0.0 TNNI3K Zornitza Stark gene: TNNI3K was added
gene: TNNI3K was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Cardiomyopathy_Paediatric v0.0 TNNI3 Zornitza Stark gene: TNNI3 was added
gene: TNNI3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 2A,; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Hypertrophic cardiomyopathy
Cardiomyopathy_Paediatric v0.0 TNNC1 Zornitza Stark gene: TNNC1 was added
gene: TNNC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, familial hypertrophic, 13,; Cardiomyopathy, dilated, 1Z
Cardiomyopathy_Paediatric v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Cardiomyopathy_Paediatric v0.0 TMEM43 Zornitza Stark gene: TMEM43 was added
gene: TMEM43 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302
Cardiomyopathy_Paediatric v0.0 TMEM126B Zornitza Stark gene: TMEM126B was added
gene: TMEM126B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126B were set to 27374773; 27374774
Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250
Cardiomyopathy_Paediatric v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 27604308
Phenotypes for gene: TAZ were set to Barth syndrome, 302060; Dilated Cardiomyopathy, X-Linked; Left Ventricular Noncompaction Cardiomyopathy; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial lipid metabolism; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Barth syndrome
Cardiomyopathy_Paediatric v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Cardiomyopathy_Paediatric v0.0 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 26173643; 25795793
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559; Noonan syndrome 9
Mode of pathogenicity for gene: SOS2 was set to Other - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837
Phenotypes for gene: SOS1 were set to Noonan syndrome; Noonan syndrome 4; Noonan syndrome 4 610733; syndromic HCM
Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 27604308
Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Hypertrophic cardiomyopathy; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
Cardiomyopathy_Paediatric v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 27604308
Phenotypes for gene: SLC25A20 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM
Cardiomyopathy_Paediatric v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 24816252; 27604308
Phenotypes for gene: SLC22A5 were set to HCM, mixed; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; DCM; Carnitine transporter deficiency (primary carnitine deficiency); Propionicacidemia
Cardiomyopathy_Paediatric v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair; syndromic HCM
Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCD were set to 10735275; 18779423; 23900355
Phenotypes for gene: SGCD were set to Cardiomyopathy, dilated, 1L, 606685
Cardiomyopathy_Paediatric v0.0 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHD were set to 26008905; 24367056
Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011
Cardiomyopathy_Paediatric v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHAF1 were set to 19465911; 26642834; 22995659
Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011
Cardiomyopathy_Paediatric v0.0 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHA were set to 27604308
Phenotypes for gene: SDHA were set to Cardiomyopathy, dilated, 1GG; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Paragangliomas 5, 614165; Isolated complex II deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Cardiomyopathy, dilated, 1GG, 613642
Cardiomyopathy_Paediatric v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 27604308
Phenotypes for gene: SCO2 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; syndromic HCM; Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Cardiomyopathy_Paediatric v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN5A were set to doi:10. 1007/ s12265-016-9673-5; 24317018
Phenotypes for gene: SCN5A were set to Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Cardiomyopathy, dilated, 1E; Long QT syndrome
Cardiomyopathy_Paediatric v0.0 RYR2 Zornitza Stark gene: RYR2 was added
gene: RYR2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/
Phenotypes for gene: RYR2 were set to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 2, 600996
Cardiomyopathy_Paediatric v0.0 RIT1 Zornitza Stark gene: RIT1 was added
gene: RIT1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RIT1 were set to 23791108; 24939608; 25124994
Phenotypes for gene: RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8; Noonan syndrome 8 615355
Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 RBM20 Zornitza Stark gene: RBM20 was added
gene: RBM20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD
Cardiomyopathy_Paediatric v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAF1 were set to 17603482; 17603483
Phenotypes for gene: RAF1 were set to Noonan syndrome 5; Noonan syndrome 5 611553; LEOPARD syndrome 2 611554; syndromic HCM; LEOPARD syndrome 2; LEOPARD syndrome; Noonan syndrome
Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 16263833; 12634870; 18678287; 15384080; 15240615; 11704759; 17603483; 17497712; 12529711
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome 1 163950; LEOPARD syndrome 1 151100; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome; Noonan syndrome
Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to Cardiomyopathy_Paediatric. Sources: London South GLHSouth West GLH,NHS GMS,Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 194200
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM
Cardiomyopathy_Paediatric v0.0 PPP1R13L Zornitza Stark gene: PPP1R13L was added
gene: PPP1R13L was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 25691752; 19016676; 28069640; 15661756; 28864777
Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death
Cardiomyopathy_Paediatric v0.0 PPP1CB Zornitza Stark gene: PPP1CB was added
gene: PPP1CB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673; 28211982; 27681385
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506
Cardiomyopathy_Paediatric v0.0 PPCS Zornitza Stark gene: PPCS was added
gene: PPCS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, 618189
Cardiomyopathy_Paediatric v0.0 PPA2 Zornitza Stark gene: PPA2 was added
gene: PPA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523598
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222
Cardiomyopathy_Paediatric v0.0 PNPLA2 Zornitza Stark gene: PNPLA2 was added
gene: PNPLA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA2 were set to DCM; Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes; Neutral lipid storage disease with myopathy NLSDM
Cardiomyopathy_Paediatric v0.0 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic, 18,; Cardiomyopathy, dilated, 1P
Cardiomyopathy_Paediatric v0.0 PKP2 Zornitza Stark gene: PKP2 was added
gene: PKP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy_Paediatric v0.0 PDLIM3 Zornitza Stark gene: PDLIM3 was added
gene: PDLIM3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDLIM3 were set to 25163546
Cardiomyopathy_Paediatric v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 27604308
Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; Propionicacidemia
Cardiomyopathy_Paediatric v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 27604308
Phenotypes for gene: PCCA were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic acidemia; Propionicacidemia 606054; Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; Propionicacidemia
Cardiomyopathy_Paediatric v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242
Cardiomyopathy_Paediatric v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 19775298; 19966803
Phenotypes for gene: NRAS were set to Noonan syndrome 6 613224; CFC Syndrome; Cardio-Facio-cutanenous syndrome; syndromic HCM; Noonan syndrome 6; Noonan syndrome
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 NONO Zornitza Stark gene: NONO was added
gene: NONO was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cardiomyopathy_Paediatric v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-5 were set to Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Cardiomyopathy_Paediatric v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 16380919; 19845691; 12707950
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200; Neurofibromatosis Noonan syndrome; Neurofibromatosis syndrome 1; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis-Noonan Syndrome; Noonan syndrome
Cardiomyopathy_Paediatric v0.0 NEXN Zornitza Stark gene: NEXN was added
gene: NEXN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic, 20,; Cardiomyopathy, dilated, 1CC
Cardiomyopathy_Paediatric v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229
Cardiomyopathy_Paediatric v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, 618225
Cardiomyopathy_Paediatric v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I deficiency, nuclear type 2, 618222
Cardiomyopathy_Paediatric v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224
Cardiomyopathy_Paediatric v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, nuclear type 9, 618232
Cardiomyopathy_Paediatric v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency, nuclear type 1, 252010
Cardiomyopathy_Paediatric v0.0 NDUFS3 Zornitza Stark gene: NDUFS3 was added
gene: NDUFS3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8, 618230
Cardiomyopathy_Paediatric v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6, 618228
Cardiomyopathy_Paediatric v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226
Cardiomyopathy_Paediatric v0.0 NDUFB3 Zornitza Stark gene: NDUFB3 was added
gene: NDUFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246
Cardiomyopathy_Paediatric v0.0 NDUFB11 Zornitza Stark gene: NDUFB11 was added
gene: NDUFB11 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021
Cardiomyopathy_Paediatric v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238
Cardiomyopathy_Paediatric v0.0 NDUFAF4 Zornitza Stark gene: NDUFAF4 was added
gene: NDUFAF4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237
Cardiomyopathy_Paediatric v0.0 NDUFAF3 Zornitza Stark gene: NDUFAF3 was added
gene: NDUFAF3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240
Cardiomyopathy_Paediatric v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233
Cardiomyopathy_Paediatric v0.0 NDUFAF1 Zornitza Stark gene: NDUFAF1 was added
gene: NDUFAF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234
Cardiomyopathy_Paediatric v0.0 NDUFA2 Zornitza Stark gene: NDUFA2 was added
gene: NDUFA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235
Cardiomyopathy_Paediatric v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236
Cardiomyopathy_Paediatric v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243
Cardiomyopathy_Paediatric v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020
Cardiomyopathy_Paediatric v0.0 MYPN Zornitza Stark gene: MYPN was added
gene: MYPN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYPN were set to Cardiomyopathy, dilated, 1KK; Cardiomypathy, familial hypertrophic, 22,
Cardiomyopathy_Paediatric v0.0 MYL3 Zornitza Stark gene: MYL3 was added
gene: MYL3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8,
Cardiomyopathy_Paediatric v0.0 MYL2 Zornitza Stark gene: MYL2 was added
gene: MYL2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10
Cardiomyopathy_Paediatric v0.0 MYH7 Zornitza Stark gene: MYH7 was added
gene: MYH7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYH7 were set to Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,; Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S
Cardiomyopathy_Paediatric v0.0 MYH6 Zornitza Stark gene: MYH6 was added
gene: MYH6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH6 were set to Cardiomyopathy, familial hypertrophic, 14; Cardiomyopathy, dilated, 1EE
Cardiomyopathy_Paediatric v0.0 MYBPC3 Zornitza Stark gene: MYBPC3 was added
gene: MYBPC3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic, 4,; Left ventricular noncompaction 10,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy
Cardiomyopathy_Paediatric v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 27604308
Phenotypes for gene: MUT were set to Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; Methylmalonic aciduria, mut(0) type 251000; DCM; Methylmalonyl-CoA mutase deficiency (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
Cardiomyopathy_Paediatric v0.0 MRPL44 Zornitza Stark gene: MRPL44 was added
gene: MRPL44 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Cardiomyopathy_Paediatric v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLYCD were set to 27604308; 12955715; 7609455; 9177981
Phenotypes for gene: MLYCD were set to malonic aciduria; 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism); Malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); Mild clinical features. Developmental delay, epilepsy; Malonyl-CoA decarboxylase deficiency; HCM; Hypertrophic-hypocontractile cardiomyopathy
Cardiomyopathy_Paediatric v0.0 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction 7
Cardiomyopathy_Paediatric v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K2 were set to 23379592; 21396583
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 4; syndromic HCM; CFC syndrome
Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583
Phenotypes for gene: MAP2K1 were set to ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 3; syndromic HCM; CFC syndrome; LEOPARD syndrome
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 25795793; 29469822
Phenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564
Cardiomyopathy_Paediatric v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRPPRC were set to 12529507; 24399447; 22045337; 26510951
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111
Cardiomyopathy_Paediatric v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 15148145; 18551513; 15622532
Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A; Emery-Dreifuss muscular dystrophy 2, AD, 181350; Congenital Muscular Dystrophy, LMNA-related (Dominant); Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
Cardiomyopathy_Paediatric v0.0 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: LAMP2 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: LAMP2 were set to 27604308
Phenotypes for gene: LAMP2 were set to Danon disease; syndromic HCM
Cardiomyopathy_Paediatric v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to PMID: 21396583
Phenotypes for gene: KRAS were set to Noonan syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 2 615278; Cardiofaciocutaneous syndrome 2; CFC syndrome; Noonan syndrome; Noonan syndrome 3 609942
Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12
Cardiomyopathy_Paediatric v0.0 JPH2 Zornitza Stark gene: JPH2 was added
gene: JPH2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 27604308
Phenotypes for gene: IDUA were set to Scheie syndrome; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis type 1S; Hurler syndrome; MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type I; Mucopolysaccharidosis type 1H/S; Mucopolysaccharidosis Is, 607016
Cardiomyopathy_Paediatric v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 27604308
Phenotypes for gene: IDS were set to MPS II, Hunter disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 2; Mucopolysaccharidosis Type II; Mucopolysaccharidosis II, 309900
Cardiomyopathy_Paediatric v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 24049096; 20847235
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2, 613657; Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2
Cardiomyopathy_Paediatric v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 16170316; 16969868; 16443854; 21396583
Phenotypes for gene: HRAS were set to Costello syndrome; syndromic HCM
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 HCN4 Zornitza Stark gene: HCN4 was added
gene: HCN4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 27604308
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Cardiomyopathy_Paediatric v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 27604308
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Cardiomyopathy_Paediatric v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUSB were set to 27604308
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220; Mucopolysaccharidosis, Type VII; syndromic HCM; MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis Type VII; MPS VII, Sly disease (MPS IV, Morquio disease)
Cardiomyopathy_Paediatric v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 27604308
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis Type IVB; MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis, Type IV; GM1-gangliosidosis, type III, 230650; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; syndromic HCM; GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010
Cardiomyopathy_Paediatric v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to HCM, mixed; Glycogen storage disease II, 232300; syndromic HCM; Hypotonia, muscle weakness, progressive respiratory failure; Glycogen storage disease type II (Pompe disease)
Cardiomyopathy_Paediatric v0.0 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 27604308
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Dilated Cardiomyopathy, Recessive; Fukuyama Congenital Muscular Dystrophy; Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Cardiomyopathy, dilated, 1X; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Cardiomyopathy_Paediatric v0.0 FHOD3 Zornitza Stark gene: FHOD3 was added
gene: FHOD3 was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy
Cardiomyopathy_Paediatric v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091
Cardiomyopathy_Paediatric v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 27604308
Phenotypes for gene: FAH were set to HCM; Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I
Cardiomyopathy_Paediatric v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23838600; 23674064; 26395118; 26917586; 23222957; 25331754; 28624465
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Cardiomyopathy_Paediatric v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Cardiomyopathy_Paediatric v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair and keratoderma
Cardiomyopathy_Paediatric v0.0 DSG2 Zornitza Stark gene: DSG2 was added
gene: DSG2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10; Cardiomyopathy, dilated, 1BB,
Cardiomyopathy_Paediatric v0.0 DSC2 Zornitza Stark gene: DSC2 was added
gene: DSC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
Cardiomyopathy_Paediatric v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 17273964; 22242004; 23890587
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Cardiomyopathy_Paediatric v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 16055927; 22797137; 27928778; 27604308; 27426421
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; dilated cardiomyopathy with ataxia syndrome; 3-methylglutaconic aciduria, type V
Cardiomyopathy_Paediatric v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200; Cardiomyopathy, dilated, 3B; Dilated Cardiomyopathy, X-Linked; Becker muscular dystrophy, 300376
Cardiomyopathy_Paediatric v0.0 DES Zornitza Stark gene: DES was added
gene: DES was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I,
Cardiomyopathy_Paediatric v0.0 CSRP3 Zornitza Stark gene: CSRP3 was added
gene: CSRP3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSRP3 were set to Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12
Cardiomyopathy_Paediatric v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 24816252; 27604308
Phenotypes for gene: CPT2 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649; HCM, mixed; DCM; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Cardiomyopathy_Paediatric v0.0 COX6B1 Zornitza Stark gene: COX6B1 was added
gene: COX6B1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Cardiomyopathy_Paediatric v0.0 COX14 Zornitza Stark gene: COX14 was added
gene: COX14 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 COA6 Zornitza Stark gene: COA6 was added
gene: COA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA6 were set to 25339201; 22277967; 25959673; 24549041
Phenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Cardiomyopathy_Paediatric v0.0 COA5 Zornitza Stark gene: COA5 was added
gene: COA5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA5 were set to 27604308
Phenotypes for gene: COA5 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial complex IV deficiency, 220110; syndromic HCM; Isolated complex IV deficiency; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Cardiomyopathy_Paediatric v0.0 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBL were set to 19571318; 20543203; 20619386
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 19206169; 21396583
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3; Noonan Syndrome; LEOPARD syndrome 3 613707
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 BAG3 Zornitza Stark gene: BAG3 was added
gene: BAG3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH
Cardiomyopathy_Paediatric v0.0 ATPAF2 Zornitza Stark gene: ATPAF2 was added
gene: ATPAF2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Cardiomyopathy_Paediatric v0.0 ATP5D Zornitza Stark gene: ATP5D was added
gene: ATP5D was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Cardiomyopathy_Paediatric v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSB were set to 27604308
Phenotypes for gene: ARSB were set to MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; Mucopolysaccharidosis, Type VI; MUCOPOLYSACCHARIDOSIS TYPE 6
Cardiomyopathy_Paediatric v0.0 ALPK3 Zornitza Stark gene: ALPK3 was added
gene: ALPK3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, 618052
Cardiomyopathy_Paediatric v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALMS1 were set to 15689433
Phenotypes for gene: ALMS1 were set to OMIM 203800
Cardiomyopathy_Paediatric v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 27604308; National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
Phenotypes for gene: AGL were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type III; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; HCM; Glycogen storage disease type IIIa (debrancher enzyme deficiency); myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; syndromic HCM; Glycogen storage disease type III, Cori (Glycogen storage disorders); Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease IIIa, 232400; Glycogen Storage Disease; Glycogen storage disease IIIb, 232400
Cardiomyopathy_Paediatric v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Sengers syndrome, 212350
Cardiomyopathy_Paediatric v0.0 ACTN2 Zornitza Stark gene: ACTN2 was added
gene: ACTN2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN2 were set to Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 ACTC1 Zornitza Stark gene: ACTC1 was added
gene: ACTC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4; Left Ventricular Noncompaction Cardiomyopathy; Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11
Cardiomyopathy_Paediatric v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537
Phenotypes for gene: ACTA1 were set to Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; Dilated cardiomyopathy; Myopathy, congenital, with fiber-type disproportion 1 255310; CMD with rigid spine
Cardiomyopathy_Paediatric v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 27604308; 24285112; 9973285; National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
Phenotypes for gene: ACADVL were set to Liver disease, hepatomegaly, hypoketotic hypoglycaemia; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); DCM, mixed; syndromic HCM; VLCAD deficiency; HCM
Cardiomyopathy_Paediatric v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126
Cardiomyopathy_Paediatric v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCC9 were set to 15034580
Phenotypes for gene: ABCC9 were set to Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 25058219; 21549344
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Cardiomyopathy_Paediatric v0.0 Zornitza Stark Added panel Cardiomyopathy_Paediatric
Mendeliome v0.3544 FLCN Zornitza Stark Marked gene: FLCN as ready
Mendeliome v0.3544 FLCN Zornitza Stark Gene: flcn has been classified as Green List (High Evidence).
Mendeliome v0.3544 FLCN Zornitza Stark Phenotypes for gene: FLCN were changed from to Birt-Hogg-Dube syndrome (MIM#135150); Pneumothorax, primary spontaneous (MIM#173600)
Mendeliome v0.3543 FLCN Zornitza Stark Publications for gene: FLCN were set to
Mendeliome v0.3542 FLCN Zornitza Stark Mode of inheritance for gene: FLCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3541 FLCN Crystle Lee reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17124507, 30586397, 31625278; Phenotypes: Birt-Hogg-Dube syndrome (MIM#135150), Pneumothorax, primary spontaneous (MIM#173600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hair disorders v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Hair disorders v0.0 TRPS1 Bryony Thompson gene: TRPS1 was added
gene: TRPS1 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPS1 were set to 31332722
Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type III, 190351; Trichorhinophalangeal syndrome, type I, 190350
Hair disorders v0.0 TP63 Bryony Thompson gene: TP63 was added
gene: TP63 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP63 were set to 31332722
Phenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
Hair disorders v0.0 GJB6 Bryony Thompson gene: GJB6 was added
gene: GJB6 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJB6 were set to 31332722
Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500
Hair disorders v0.0 WNT10A Bryony Thompson gene: WNT10A was added
gene: WNT10A was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WNT10A were set to 31332722
Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia
Hair disorders v0.0 EDARADD Bryony Thompson gene: EDARADD was added
gene: EDARADD was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDARADD were set to 31332722
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic; Ectodermal dysplasia, anhidrotic
Hair disorders v0.0 EDAR Bryony Thompson gene: EDAR was added
gene: EDAR was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDAR were set to 31332722
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology
Hair disorders v0.0 EDA Bryony Thompson gene: EDA was added
gene: EDA was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EDA were set to 31332722
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective
Hair disorders v0.0 TCHH Bryony Thompson gene: TCHH was added
gene: TCHH was added to Hair disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TCHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCHH were set to 31332722
Phenotypes for gene: TCHH were set to ?Uncombable hair syndrome 3, 617252
Hair disorders v0.0 TGM3 Bryony Thompson gene: TGM3 was added
gene: TGM3 was added to Hair disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGM3 were set to 31332722
Phenotypes for gene: TGM3 were set to ?Uncombable hair syndrome 2, 617251
Hair disorders v0.0 PADI3 Bryony Thompson gene: PADI3 was added
gene: PADI3 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PADI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PADI3 were set to 31332722
Phenotypes for gene: PADI3 were set to Uncombable hair syndrome, 191480
Hair disorders v0.0 JUP Bryony Thompson gene: JUP was added
gene: JUP was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JUP were set to 31332722
Phenotypes for gene: JUP were set to Naxos disease, 601214
Hair disorders v0.0 DSP Bryony Thompson gene: DSP was added
gene: DSP was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSP were set to 31332722
Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome, 607655; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821
Hair disorders v0.0 KRT71 Bryony Thompson gene: KRT71 was added
gene: KRT71 was added to Hair disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT71 were set to 31332722
Phenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896
Hair disorders v0.0 TARS Bryony Thompson gene: TARS was added
gene: TARS was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31332722
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive, 618546
Hair disorders v0.0 GTF2E2 Bryony Thompson gene: GTF2E2 was added
gene: GTF2E2 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2E2 were set to 31332722
Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, 616943
Hair disorders v0.0 ERCC3 Bryony Thompson gene: ERCC3 was added
gene: ERCC3 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 31332722
Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive, 616390
Hair disorders v0.0 RNF113A Bryony Thompson gene: RNF113A was added
gene: RNF113A was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: RNF113A 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: RNF113A were set to 31332722
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, 300953
Hair disorders v0.0 GTF2H5 Bryony Thompson gene: GTF2H5 was added
gene: GTF2H5 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H5 were set to 31332722
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395
Hair disorders v0.0 MPLKIP Bryony Thompson gene: MPLKIP was added
gene: MPLKIP was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPLKIP were set to 31332722
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050
Hair disorders v0.0 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 31332722
Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive, 601675
Hair disorders v0.0 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 31332722
Phenotypes for gene: ATP7A were set to Menkes disease, 309400
Hair disorders v0.0 BCS1L Bryony Thompson gene: BCS1L was added
gene: BCS1L was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 31332722
Phenotypes for gene: BCS1L were set to Bjornstad syndrome, 262000
Hair disorders v0.0 KRT83 Bryony Thompson gene: KRT83 was added
gene: KRT83 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: KRT83 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT83 were set to 31332722
Phenotypes for gene: KRT83 were set to Monilethrix, 158000
Hair disorders v0.0 KRT86 Bryony Thompson gene: KRT86 was added
gene: KRT86 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT86 were set to 31332722
Phenotypes for gene: KRT86 were set to Monilethrix, 158000
Hair disorders v0.0 KRT81 Bryony Thompson gene: KRT81 was added
gene: KRT81 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: KRT81 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT81 were set to 31332722
Phenotypes for gene: KRT81 were set to Monilethrix, 158000
Hair disorders v0.0 SPINK5 Bryony Thompson gene: SPINK5 was added
gene: SPINK5 was added to Hair disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK5 were set to 31332722
Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500
Hair disorders v0.0 ASL Bryony Thompson gene: ASL was added
gene: ASL was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 31332722
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900
Hair disorders v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH3 were set to 31332722
Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Hair disorders v0.0 LPAR6 Bryony Thompson gene: LPAR6 was added
gene: LPAR6 was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPAR6 were set to Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150; Hypotrichosis 8, 278150
Hair disorders v0.0 LIPH Bryony Thompson gene: LIPH was added
gene: LIPH was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPH were set to 31332722
Phenotypes for gene: LIPH were set to Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379; Hypotrichosis 7, 604379
Hair disorders v0.0 KRT74 Bryony Thompson gene: KRT74 was added
gene: KRT74 was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT74 were set to Hypotrichosis 3, 613981
Hair disorders v0.0 HR Bryony Thompson gene: HR was added
gene: HR was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HR were set to 31332722
Phenotypes for gene: HR were set to Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550
Hair disorders v0.0 DSG4 Bryony Thompson gene: DSG4 was added
gene: DSG4 was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSG4 were set to Hypotrichosis 6, 607903
Hair disorders v0.0 CDSN Bryony Thompson gene: CDSN was added
gene: CDSN was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDSN were set to 31332722
Phenotypes for gene: CDSN were set to Hypotrichosis 2, 146520
Hair disorders v0.0 APCDD1 Bryony Thompson gene: APCDD1 was added
gene: APCDD1 was added to Hair disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: APCDD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APCDD1 were set to Hypotrichosis 1, 605389
Hair disorders v0.0 Bryony Thompson Added panel Hair disorders
Mackenzie's Mission_Reproductive Carrier Screening v0.8 LARS Zornitza Stark Marked gene: LARS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.8 LARS Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name LARS1
Mackenzie's Mission_Reproductive Carrier Screening v0.8 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.8 LARS Zornitza Stark Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1 to Infantile liver failure syndrome 1, MIM# 615438
Mendeliome v0.3541 LARS Zornitza Stark Publications for gene: LARS were set to 28774368; 30349989; 22607940
Mendeliome v0.3540 LARS Zornitza Stark edited their review of gene: LARS: Changed publications: 28774368, 30349989, 22607940, 32699352
Mackenzie's Mission_Reproductive Carrier Screening v0.7 LARS Zornitza Stark Tag new gene name tag was added to gene: LARS.
Mendeliome v0.3540 LARS Zornitza Stark Phenotypes for gene: LARS were changed from Infantile liver failure syndrome 1, MIM# 615438 to Infantile liver failure syndrome 1, MIM# 615438; Seizures; Intellectual disability; Encephalopathy
Mendeliome v0.3539 LARS Zornitza Stark Marked gene: LARS as ready
Mendeliome v0.3539 LARS Zornitza Stark Added comment: Comment when marking as ready: Lenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families.

Seizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation.

In addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities.

These patients will most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few).

The gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs).

Please note that the HGNC approved symbol for this gene is LARS1.
Mendeliome v0.3539 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Mendeliome v0.3539 LARS Zornitza Stark Tag new gene name tag was added to gene: LARS.
Cholestasis v0.30 LARS Zornitza Stark Marked gene: LARS as ready
Cholestasis v0.30 LARS Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is LARS1
Cholestasis v0.30 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Cholestasis v0.30 LARS Zornitza Stark Tag new gene name tag was added to gene: LARS.
Intellectual disability syndromic and non-syndromic v0.2792 LARS Zornitza Stark Tag new gene name tag was added to gene: LARS.
Intellectual disability syndromic and non-syndromic v0.2792 LARS Zornitza Stark Marked gene: LARS as ready
Intellectual disability syndromic and non-syndromic v0.2792 LARS Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name LARS1
Intellectual disability syndromic and non-syndromic v0.2792 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2792 LARS Zornitza Stark Phenotypes for gene: LARS were changed from Infantile liver failure syndrome 1, MIM# 615438 to Infantile liver failure syndrome 1, MIM# 615438; Seizures; Intellectual disability; Encephalopathy
Intellectual disability syndromic and non-syndromic v0.2791 LARS Zornitza Stark Classified gene: LARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2791 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.762 LARS Zornitza Stark Marked gene: LARS as ready
Genetic Epilepsy v0.762 LARS Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is LARS1
Genetic Epilepsy v0.762 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.762 LARS Zornitza Stark Phenotypes for gene: LARS were changed from Infantile liver failure syndrome 1, MIM# 615438 to Infantile liver failure syndrome 1, MIM# 615438; Seizures; Intellectual disability; Encephalopathy
Genetic Epilepsy v0.761 LARS Zornitza Stark Tag new gene name tag was added to gene: LARS.
Genetic Epilepsy v0.761 LARS Zornitza Stark Classified gene: LARS as Green List (high evidence)
Genetic Epilepsy v0.761 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Corneal Dystrophy v0.32 KRT12 Zornitza Stark Marked gene: KRT12 as ready
Corneal Dystrophy v0.32 KRT12 Zornitza Stark Gene: krt12 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.32 KRT12 Zornitza Stark Phenotypes for gene: KRT12 were changed from to Meesmann corneal dystrophy 1, MIM# 122100
Corneal Dystrophy v0.31 KRT12 Zornitza Stark Publications for gene: KRT12 were set to
Corneal Dystrophy v0.30 KRT12 Zornitza Stark Mode of inheritance for gene: KRT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2790 LARS Konstantinos Varvagiannis gene: LARS was added
gene: LARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 32699352
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438
Penetrance for gene: LARS were set to Complete
Review for gene: LARS was set to GREEN
Added comment: Please consider inclusion with amber/green rating in the current panel.

Biallelic pathogenic LARS1 variants cause Infantile liver failure syndrome 1, MIM# 615438.

Lenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families.

Seizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation.

In addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities.

These patients will most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few).

The gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs).

Please note that the HGNC approved symbol for this gene is LARS1.
Sources: Literature
Genetic Epilepsy v0.760 LARS Konstantinos Varvagiannis gene: LARS was added
gene: LARS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 32699352
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438
Penetrance for gene: LARS were set to Complete
Review for gene: LARS was set to GREEN
Added comment: Please consider inclusion with amber/green rating in the current panel.

Biallelic pathogenic LARS1 variants cause Infantile liver failure syndrome 1, MIM# 615438.

Lenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families.

Seizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation.

In addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities.

These patients will most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few).

The gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs).

Please note that the HGNC approved symbol for this gene is LARS1.
Sources: Literature
Corneal Dystrophy v0.28 VSX1 Zornitza Stark Marked gene: VSX1 as ready
Corneal Dystrophy v0.28 VSX1 Zornitza Stark Gene: vsx1 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.28 VSX1 Zornitza Stark Phenotypes for gene: VSX1 were changed from to Keratoconus 1, MIM# 148300
Corneal Dystrophy v0.27 VSX1 Zornitza Stark Mode of inheritance for gene: VSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.26 VSX1 Zornitza Stark reviewed gene: VSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratoconus 1, MIM# 148300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.26 STS Zornitza Stark Marked gene: STS as ready
Corneal Dystrophy v0.26 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Corneal Dystrophy v0.26 STS Zornitza Stark Classified gene: STS as Green List (high evidence)
Corneal Dystrophy v0.26 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Corneal Dystrophy v0.25 STS Zornitza Stark gene: STS was added
gene: STS was added to Corneal Dystrophy. Sources: Expert list
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to Ichthyosis, X-linked, MIM# 308100
Review for gene: STS was set to GREEN
Added comment: Corneal opacities are part of the phenotype.
Sources: Expert list
Corneal Dystrophy v0.24 PITX2 Zornitza Stark Marked gene: PITX2 as ready
Corneal Dystrophy v0.24 PITX2 Zornitza Stark Gene: pitx2 has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.24 PITX2 Zornitza Stark Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600
Corneal Dystrophy v0.23 PITX2 Zornitza Stark Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.22 PITX2 Zornitza Stark Classified gene: PITX2 as Red List (low evidence)
Corneal Dystrophy v0.22 PITX2 Zornitza Stark Gene: pitx2 has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.21 PITX2 Zornitza Stark reviewed gene: PITX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 4, MIM# 137600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.21 MAF Zornitza Stark Marked gene: MAF as ready
Corneal Dystrophy v0.21 MAF Zornitza Stark Gene: maf has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.21 MAF Zornitza Stark Phenotypes for gene: MAF were changed from to Cataract 21, multiple types, MIM# 610202
Corneal Dystrophy v0.20 MAF Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.19 MAF Zornitza Stark Classified gene: MAF as Red List (low evidence)
Corneal Dystrophy v0.19 MAF Zornitza Stark Gene: maf has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.19 MAF Zornitza Stark Classified gene: MAF as Red List (low evidence)
Corneal Dystrophy v0.19 MAF Zornitza Stark Gene: maf has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.18 MAF Zornitza Stark reviewed gene: MAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 21, multiple types, MIM# 610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.18 LCAT Zornitza Stark Marked gene: LCAT as ready
Corneal Dystrophy v0.18 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Corneal Dystrophy v0.18 LCAT Zornitza Stark Classified gene: LCAT as Green List (high evidence)
Corneal Dystrophy v0.18 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Corneal Dystrophy v0.17 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Corneal Dystrophy. Sources: Expert list
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, MIM# 245900
Review for gene: LCAT was set to GREEN
Added comment: Corneal opacities are part of the phenotype.
Sources: Expert list
Mendeliome v0.3539 KERA Zornitza Stark Marked gene: KERA as ready
Mendeliome v0.3539 KERA Zornitza Stark Gene: kera has been classified as Green List (High Evidence).
Mendeliome v0.3539 KERA Zornitza Stark Phenotypes for gene: KERA were changed from to Cornea plana 2, autosomal recessive, MIM# 217300
Mendeliome v0.3538 KERA Zornitza Stark Publications for gene: KERA were set to
Mendeliome v0.3537 KERA Zornitza Stark Mode of inheritance for gene: KERA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3536 KERA Zornitza Stark reviewed gene: KERA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23834557, 11726611, 10802664; Phenotypes: Cornea plana 2, autosomal recessive, MIM# 217300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.16 KERA Zornitza Stark Marked gene: KERA as ready
Corneal Dystrophy v0.16 KERA Zornitza Stark Gene: kera has been classified as Green List (High Evidence).
Corneal Dystrophy v0.16 KERA Zornitza Stark Classified gene: KERA as Green List (high evidence)
Corneal Dystrophy v0.16 KERA Zornitza Stark Gene: kera has been classified as Green List (High Evidence).
Corneal Dystrophy v0.15 KERA Zornitza Stark gene: KERA was added
gene: KERA was added to Corneal Dystrophy. Sources: Expert list
Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KERA were set to 23834557; 11726611; 10802664
Phenotypes for gene: KERA were set to Cornea plana 2, autosomal recessive, MIM# 217300
Review for gene: KERA was set to GREEN
Added comment: Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations.
Sources: Expert list
Corneal Dystrophy v0.14 KRT12 Zornitza Stark reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 22174841; Phenotypes: Meesmann corneal dystrophy 1, MIM# 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.14 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Corneal Dystrophy v0.14 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.14 GRHL2 Zornitza Stark Classified gene: GRHL2 as Green List (high evidence)
Corneal Dystrophy v0.14 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.13 GRHL2 Zornitza Stark Tag deep intronic tag was added to gene: GRHL2.
Corneal Dystrophy v0.13 GRHL2 Zornitza Stark gene: GRHL2 was added
gene: GRHL2 was added to Corneal Dystrophy. Sources: Expert list
Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRHL2 were set to 29499165
Phenotypes for gene: GRHL2 were set to Corneal dystrophy, posterior polymorphous, 4, MIM# 618031
Review for gene: GRHL2 was set to GREEN
Added comment: PMID:29499165 - Three variants in the regulatory region of GRHL2 identified in 6 families. c.20+544G>T segregates in 19 affected over 4 generations and was identified in another 3 families in one case de novo. Two further intronic variants identified in two families c.20+257delT
Sources: Expert list
Corneal Dystrophy v0.12 GSN Zornitza Stark Marked gene: GSN as ready
Corneal Dystrophy v0.12 GSN Zornitza Stark Gene: gsn has been classified as Green List (High Evidence).
Corneal Dystrophy v0.12 GSN Zornitza Stark Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, MIM# 105120
Corneal Dystrophy v0.11 GSN Zornitza Stark Publications for gene: GSN were set to
Corneal Dystrophy v0.10 GSN Zornitza Stark Mode of inheritance for gene: GSN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.9 GSN Zornitza Stark reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 2176164; Phenotypes: Amyloidosis, Finnish type, MIM# 105120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.9 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Corneal Dystrophy v0.9 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.9 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Corneal Dystrophy v0.8 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.7 FOXE3 Zornitza Stark Classified gene: FOXE3 as Red List (low evidence)
Corneal Dystrophy v0.7 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.6 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.6 CYP4V2 Zornitza Stark Marked gene: CYP4V2 as ready
Corneal Dystrophy v0.6 CYP4V2 Zornitza Stark Gene: cyp4v2 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.6 CYP4V2 Zornitza Stark Phenotypes for gene: CYP4V2 were changed from to Bietti crystalline corneoretinal dystrophy, MIM# 210370
Corneal Dystrophy v0.5 CYP4V2 Zornitza Stark Publications for gene: CYP4V2 were set to
Corneal Dystrophy v0.4 CYP4V2 Zornitza Stark Mode of inheritance for gene: CYP4V2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.3 CYP4V2 Zornitza Stark reviewed gene: CYP4V2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042513; Phenotypes: Bietti crystalline corneoretinal dystrophy, MIM# 210370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Haemorrhagic Telangiectasia v0.9 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Hereditary Haemorrhagic Telangiectasia v0.9 RASA1 Zornitza Stark Added comment: Comment when marking as ready: Similarly to EPHB4, phenotypic overlap with HHT.
Hereditary Haemorrhagic Telangiectasia v0.9 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.9 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Pancreatitis v0.25 SPINK1 Zornitza Stark Marked gene: SPINK1 as ready
Pancreatitis v0.25 SPINK1 Zornitza Stark Gene: spink1 has been classified as Green List (High Evidence).
Pancreatitis v0.25 SPINK1 Zornitza Stark Phenotypes for gene: SPINK1 were changed from to Tropical calcific pancreatitis, MIM# 608189; Pancreatitis, hereditary, MIM# 167800
Pancreatitis v0.24 SPINK1 Zornitza Stark Publications for gene: SPINK1 were set to
Pancreatitis v0.23 SPINK1 Zornitza Stark Mode of inheritance for gene: SPINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pancreatitis v0.22 SPINK1 Zornitza Stark reviewed gene: SPINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835640, 11355022, 11938439, 16823394, 17274009, 27535533; Phenotypes: Tropical calcific pancreatitis, MIM# 608189, Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pancreatitis v0.22 PRSS1 Zornitza Stark Marked gene: PRSS1 as ready
Pancreatitis v0.22 PRSS1 Zornitza Stark Gene: prss1 has been classified as Green List (High Evidence).
Pancreatitis v0.22 PRSS1 Zornitza Stark Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary, MIM# 167800
Pancreatitis v0.21 PRSS1 Zornitza Stark Publications for gene: PRSS1 were set to
Pancreatitis v0.20 PRSS1 Zornitza Stark Mode of inheritance for gene: PRSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v0.19 PRSS1 Zornitza Stark reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841182, 10204851, 10529393, 11097832, 11702203, 15776435, 16791840, 18461367, 17072318; Phenotypes: Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v0.19 CFTR Zornitza Stark Marked gene: CFTR as ready
Pancreatitis v0.19 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Pancreatitis v0.19 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis
Pancreatitis v0.18 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pancreatitis v0.17 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3536 CTRC Zornitza Stark Marked gene: CTRC as ready
Mendeliome v0.3536 CTRC Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3536 CTRC Zornitza Stark Phenotypes for gene: CTRC were changed from to {Pancreatitis, chronic, susceptibility to}, MIM#167800
Mendeliome v0.3535 CTRC Zornitza Stark Publications for gene: CTRC were set to
Mendeliome v0.3534 CTRC Zornitza Stark Mode of inheritance for gene: CTRC was changed from Unknown to Other
Mendeliome v0.3533 CTRC Zornitza Stark Classified gene: CTRC as Amber List (moderate evidence)
Mendeliome v0.3533 CTRC Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3532 CTRC Zornitza Stark reviewed gene: CTRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 18059268, 18172691, 28502372; Phenotypes: {Pancreatitis, chronic, susceptibility to}, MIM#167800; Mode of inheritance: Other
Pancreatitis v0.17 CTRC Zornitza Stark Marked gene: CTRC as ready
Pancreatitis v0.17 CTRC Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.17 CTRC Zornitza Stark Phenotypes for gene: CTRC were changed from to {Pancreatitis, chronic, susceptibility to}, MIM#167800
Pancreatitis v0.16 CTRC Zornitza Stark Publications for gene: CTRC were set to
Pancreatitis v0.15 CTRC Zornitza Stark Mode of inheritance for gene: CTRC was changed from Unknown to Other
Pancreatitis v0.14 CTRC Zornitza Stark Classified gene: CTRC as Amber List (moderate evidence)
Pancreatitis v0.14 CTRC Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.13 CTRC Zornitza Stark reviewed gene: CTRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 18059268, 18172691, 28502372; Phenotypes: {Pancreatitis, chronic, susceptibility to}, MIM#167800; Mode of inheritance: Other
Mendeliome v0.3532 CPA1 Zornitza Stark Marked gene: CPA1 as ready
Mendeliome v0.3532 CPA1 Zornitza Stark Gene: cpa1 has been classified as Green List (High Evidence).
Mendeliome v0.3532 CPA1 Zornitza Stark Phenotypes for gene: CPA1 were changed from to Susceptibility to chronic pancreatitis; Hereditary pancreatitis
Mendeliome v0.3531 CPA1 Zornitza Stark Publications for gene: CPA1 were set to
Mendeliome v0.3530 CPA1 Zornitza Stark Mode of inheritance for gene: CPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3529 CPA1 Zornitza Stark reviewed gene: CPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23955596, 28497564, 28258133, 31005883; Phenotypes: Susceptibility to chronic pancreatitis, Hereditary pancreatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v0.13 CPA1 Zornitza Stark Marked gene: CPA1 as ready
Pancreatitis v0.13 CPA1 Zornitza Stark Gene: cpa1 has been classified as Green List (High Evidence).
Pancreatitis v0.13 CPA1 Zornitza Stark Phenotypes for gene: CPA1 were changed from to Susceptibility to chronic pancreatitis; Hereditary pancreatitis
Pancreatitis v0.12 CPA1 Zornitza Stark Publications for gene: CPA1 were set to
Pancreatitis v0.11 CPA1 Zornitza Stark Mode of inheritance for gene: CPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pancreatitis v0.10 CPA1 Zornitza Stark reviewed gene: CPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23955596, 28497564, 28258133, 31005883; Phenotypes: Susceptibility to chronic pancreatitis, Hereditary pancreatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3529 CLDN2 Zornitza Stark Marked gene: CLDN2 as ready
Mendeliome v0.3529 CLDN2 Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3529 CLDN2 Zornitza Stark Phenotypes for gene: CLDN2 were changed from to Susceptibility to pancreatitis
Mendeliome v0.3528 CLDN2 Zornitza Stark Publications for gene: CLDN2 were set to
Mendeliome v0.3527 CLDN2 Zornitza Stark Mode of inheritance for gene: CLDN2 was changed from Unknown to Other
Mendeliome v0.3526 CLDN2 Zornitza Stark Classified gene: CLDN2 as Amber List (moderate evidence)
Mendeliome v0.3526 CLDN2 Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3525 CLDN2 Zornitza Stark reviewed gene: CLDN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29884332, 31163246; Phenotypes: Susceptibility to pancreatitis; Mode of inheritance: Other
Pancreatitis v0.10 CLDN2 Zornitza Stark Marked gene: CLDN2 as ready
Pancreatitis v0.10 CLDN2 Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.10 CLDN2 Zornitza Stark Phenotypes for gene: CLDN2 were changed from to Susceptibility to pancreatitis
Pancreatitis v0.9 CLDN2 Zornitza Stark Publications for gene: CLDN2 were set to
Pancreatitis v0.8 CLDN2 Zornitza Stark Mode of inheritance for gene: CLDN2 was changed from Unknown to Other
Pancreatitis v0.7 CLDN2 Zornitza Stark Classified gene: CLDN2 as Amber List (moderate evidence)
Pancreatitis v0.7 CLDN2 Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.6 CLDN2 Zornitza Stark reviewed gene: CLDN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29884332, 31163246; Phenotypes: Susceptibility to pancreatitis; Mode of inheritance: Other
Pancreatitis v0.6 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pancreatitis v0.5 CASR Zornitza Stark Marked gene: CASR as ready
Pancreatitis v0.5 CASR Zornitza Stark Gene: casr has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.5 CASR Zornitza Stark Phenotypes for gene: CASR were changed from to Susceptibility to pancreatitis
Pancreatitis v0.4 CASR Zornitza Stark Publications for gene: CASR were set to
Pancreatitis v0.3 CASR Zornitza Stark Mode of inheritance for gene: CASR was changed from Unknown to Other
Pancreatitis v0.2 CASR Zornitza Stark Classified gene: CASR as Amber List (moderate evidence)
Pancreatitis v0.2 CASR Zornitza Stark Gene: casr has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.1 CASR Zornitza Stark reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: None; Publications: 16497624, 26166472; Phenotypes: Susceptibility to pancreatitis; Mode of inheritance: Other
Pulmonary Arterial Hypertension v0.55 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Pulmonary Arterial Hypertension v0.55 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.55 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Pulmonary Arterial Hypertension v0.55 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.55 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Pulmonary Arterial Hypertension v0.55 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.55 ENG Zornitza Stark Marked gene: ENG as ready
Pulmonary Arterial Hypertension v0.55 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.55 ENG Zornitza Stark Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.54 ENG Zornitza Stark Publications for gene: ENG were set to
Pulmonary Arterial Hypertension v0.53 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Pulmonary Arterial Hypertension v0.53 GDF2 Zornitza Stark Gene: gdf2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.53 GDF2 Zornitza Stark Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506 to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506; Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.52 GDF2 Zornitza Stark Publications for gene: GDF2 were set to
Pulmonary Arterial Hypertension v0.51 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Pulmonary Arterial Hypertension v0.51 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.51 SMAD9 Zornitza Stark Marked gene: SMAD9 as ready
Pulmonary Arterial Hypertension v0.51 SMAD9 Zornitza Stark Gene: smad9 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.51 SOX17 Zornitza Stark Marked gene: SOX17 as ready
Pulmonary Arterial Hypertension v0.51 SOX17 Zornitza Stark Gene: sox17 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.51 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674 to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.50 SOX17 Zornitza Stark Publications for gene: SOX17 were set to
Pulmonary Arterial Hypertension v0.49 TBX4 Zornitza Stark Marked gene: TBX4 as ready
Pulmonary Arterial Hypertension v0.49 TBX4 Zornitza Stark Gene: tbx4 has been classified as Green List (High Evidence).
Mendeliome v0.3525 BMP10 Zornitza Stark Marked gene: BMP10 as ready
Mendeliome v0.3525 BMP10 Zornitza Stark Gene: bmp10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3525 BMP10 Zornitza Stark Classified gene: BMP10 as Amber List (moderate evidence)
Mendeliome v0.3525 BMP10 Zornitza Stark Gene: bmp10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3524 BMP10 Zornitza Stark gene: BMP10 was added
gene: BMP10 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP10 were set to 30578383
Phenotypes for gene: BMP10 were set to Pulmonary arterial hypertension
Review for gene: BMP10 was set to AMBER
Added comment: A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients.
Sources: Expert list
Pulmonary Arterial Hypertension v0.49 BMP10 Zornitza Stark Marked gene: BMP10 as ready
Pulmonary Arterial Hypertension v0.49 BMP10 Zornitza Stark Gene: bmp10 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.49 G6PD Zornitza Stark Marked gene: G6PD as ready
Pulmonary Arterial Hypertension v0.49 G6PD Zornitza Stark Added comment: Comment when marking as ready: Multiple reports of variants in G6PD reported in individuals with PAH, mechanism unclear.
Pulmonary Arterial Hypertension v0.49 G6PD Zornitza Stark Gene: g6pd has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.49 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Pulmonary Arterial Hypertension v0.49 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3523 SMAD1 Zornitza Stark Marked gene: SMAD1 as ready
Mendeliome v0.3523 SMAD1 Zornitza Stark Gene: smad1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3523 SMAD1 Zornitza Stark Classified gene: SMAD1 as Amber List (moderate evidence)
Mendeliome v0.3523 SMAD1 Zornitza Stark Gene: smad1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3522 SMAD1 Zornitza Stark gene: SMAD1 was added
gene: SMAD1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD1 were set to 21898662; 23478097
Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
Review for gene: SMAD1 was set to AMBER
Added comment: One missense variant identified in a PAH case. Mouse model is consistent with pulmonary hypertension.
Sources: Expert list
Pulmonary Arterial Hypertension v0.49 SMAD1 Zornitza Stark Marked gene: SMAD1 as ready
Pulmonary Arterial Hypertension v0.49 SMAD1 Zornitza Stark Gene: smad1 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.49 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Pulmonary Arterial Hypertension v0.49 SMAD4 Zornitza Stark Gene: smad4 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.49 BMPR1B Zornitza Stark Marked gene: BMPR1B as ready
Pulmonary Arterial Hypertension v0.49 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v0.49 BMPR1B Zornitza Stark Publications for gene: BMPR1B were set to
Pulmonary Arterial Hypertension v0.48 BMPR1B Zornitza Stark Mode of pathogenicity for gene: BMPR1B was changed from None to Other
Pulmonary Arterial Hypertension v0.47 BMPR1B Zornitza Stark Mode of inheritance for gene: BMPR1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3521 BRAP Zornitza Stark Marked gene: BRAP as ready
Mendeliome v0.3521 BRAP Zornitza Stark Gene: brap has been classified as Red List (Low Evidence).
Mendeliome v0.3521 BRAP Zornitza Stark gene: BRAP was added
gene: BRAP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAP were set to 30703135
Phenotypes for gene: BRAP were set to Pulmonary arterial hypertension
Review for gene: BRAP was set to RED
Added comment: A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function.
Sources: Expert list
Pulmonary Arterial Hypertension v0.46 BRAP Zornitza Stark Marked gene: BRAP as ready
Pulmonary Arterial Hypertension v0.46 BRAP Zornitza Stark Gene: brap has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v0.46 KDR Zornitza Stark Marked gene: KDR as ready
Pulmonary Arterial Hypertension v0.46 KDR Zornitza Stark Gene: kdr has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.46 KDR Zornitza Stark Classified gene: KDR as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.46 KDR Zornitza Stark Gene: kdr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3520 KLF2 Zornitza Stark Marked gene: KLF2 as ready
Mendeliome v0.3520 KLF2 Zornitza Stark Gene: klf2 has been classified as Red List (Low Evidence).
Mendeliome v0.3520 KLF2 Zornitza Stark gene: KLF2 was added
gene: KLF2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KLF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF2 were set to 28188237
Phenotypes for gene: KLF2 were set to Pulmonary arterial hypertension
Review for gene: KLF2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Pulmonary Arterial Hypertension v0.45 KLF2 Zornitza Stark Marked gene: KLF2 as ready
Pulmonary Arterial Hypertension v0.45 KLF2 Zornitza Stark Gene: klf2 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v0.45 EIF2AK4 Zornitza Stark Marked gene: EIF2AK4 as ready
Pulmonary Arterial Hypertension v0.45 EIF2AK4 Zornitza Stark Gene: eif2ak4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.45 CAV1 Zornitza Stark Marked gene: CAV1 as ready
Pulmonary Arterial Hypertension v0.45 CAV1 Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.45 AQP1 Zornitza Stark Marked gene: AQP1 as ready
Pulmonary Arterial Hypertension v0.45 AQP1 Zornitza Stark Gene: aqp1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.45 AQP1 Zornitza Stark Publications for gene: AQP1 were set to
Mendeliome v0.3519 ATP13A3 Zornitza Stark Marked gene: ATP13A3 as ready
Mendeliome v0.3519 ATP13A3 Zornitza Stark Gene: atp13a3 has been classified as Green List (High Evidence).
Mendeliome v0.3519 ATP13A3 Zornitza Stark Classified gene: ATP13A3 as Green List (high evidence)
Mendeliome v0.3519 ATP13A3 Zornitza Stark Gene: atp13a3 has been classified as Green List (High Evidence).
Mendeliome v0.3518 ATP13A3 Zornitza Stark gene: ATP13A3 was added
gene: ATP13A3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATP13A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP13A3 were set to 31798832; 30679663; 29650961
Phenotypes for gene: ATP13A3 were set to Pulmonary arterial hypertension
Review for gene: ATP13A3 was set to GREEN
Added comment: Three heterozygous frameshift variants, three stop gained, two splice region variants in ATP13A3, which are predicted to lead to loss of ATPase catalytic activity identified in idiopathic/familial PAH cases. Also one case with putative recessive inheritance reported. ATP13A3 mRNA expression is confirmed in primary PASMCs and endothelial cells where its loss hindered proliferation and enhanced apoptosis of endothelial cells, which is known as the initiation event of PAH.
Sources: Expert list
Pulmonary Arterial Hypertension v0.44 ATP13A3 Zornitza Stark Marked gene: ATP13A3 as ready
Pulmonary Arterial Hypertension v0.44 ATP13A3 Zornitza Stark Gene: atp13a3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.44 ATP13A3 Zornitza Stark Phenotypes for gene: ATP13A3 were changed from to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.43 ATP13A3 Zornitza Stark Publications for gene: ATP13A3 were set to
Pulmonary Arterial Hypertension v0.42 ATP13A3 Zornitza Stark Mode of inheritance for gene: ATP13A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.38 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Amber List (moderate evidence)
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.36 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 27380894
Phenotypes for gene: MBTPS2 were set to Osteogenesis imperfecta, type XIX, MIM# 301014
Review for gene: MBTPS2 was set to AMBER
Added comment: Two unrelated families reported with multiple male affected individuals.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.35 FAM46A Zornitza Stark Phenotypes for gene: FAM46A were changed from to Osteogenesis imperfecta, type XVIII, MIM# 617952
Osteogenesis Imperfecta and Osteoporosis v0.34 FAM46A Zornitza Stark Mode of inheritance for gene: FAM46A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.33 FAM46A Zornitza Stark Marked gene: FAM46A as ready
Osteogenesis Imperfecta and Osteoporosis v0.33 FAM46A Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: TENT5A
Osteogenesis Imperfecta and Osteoporosis v0.33 FAM46A Zornitza Stark Gene: fam46a has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.33 FAM46A Zornitza Stark Tag new gene name tag was added to gene: FAM46A.
Osteogenesis Imperfecta and Osteoporosis v0.33 GORAB Zornitza Stark Marked gene: GORAB as ready
Osteogenesis Imperfecta and Osteoporosis v0.33 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.33 GORAB Zornitza Stark Classified gene: GORAB as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.33 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.32 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, MIM# 231070
Review for gene: GORAB was set to GREEN
Added comment: Osteopaenia and recurrent fractures are a feature of this condition.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.31 CASR Zornitza Stark Marked gene: CASR as ready
Osteogenesis Imperfecta and Osteoporosis v0.31 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.31 CASR Zornitza Stark Classified gene: CASR as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.31 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.30 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CASR were set to 22620673
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200; severe hypercalcemia, bone demineralization, multiple fractures
Review for gene: CASR was set to GREEN
Added comment: Severe neonatal presentations can be with multiple fractures.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.29 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Osteogenesis Imperfecta and Osteoporosis v0.29 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.29 B4GALT7 Zornitza Stark Classified gene: B4GALT7 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.29 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.28 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 26940150
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Review for gene: B4GALT7 was set to GREEN
Added comment: Osteopaenia is a key feature of this connective tissue disorder.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.27 NBAS Zornitza Stark Marked gene: NBAS as ready
Osteogenesis Imperfecta and Osteoporosis v0.27 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.27 NBAS Zornitza Stark Phenotypes for gene: NBAS were changed from short stature; bone fragility; developmental delay; immunodeficiency; autism to short stature; bone fragility; developmental delay; immunodeficiency; autism; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
Mendeliome v0.3517 SMARCA2 Zornitza Stark Marked gene: SMARCA2 as ready
Mendeliome v0.3517 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Mendeliome v0.3517 SMARCA2 Zornitza Stark Phenotypes for gene: SMARCA2 were changed from to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome
Mendeliome v0.3516 SMARCA2 Zornitza Stark Publications for gene: SMARCA2 were set to
Mendeliome v0.3515 SMARCA2 Zornitza Stark Mode of pathogenicity for gene: SMARCA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.3514 SMARCA2 Zornitza Stark Mode of inheritance for gene: SMARCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3513 SMARCA2 Zornitza Stark reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 26468571, 32694869; Phenotypes: Nicolaides-Baraitser syndrome, MIM #601358, Blepharophimosis-intellectual disability syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2790 SMARCA2 Zornitza Stark Marked gene: SMARCA2 as ready
Intellectual disability syndromic and non-syndromic v0.2790 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2790 SMARCA2 Zornitza Stark Phenotypes for gene: SMARCA2 were changed from to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome
Intellectual disability syndromic and non-syndromic v0.2789 SMARCA2 Zornitza Stark Publications for gene: SMARCA2 were set to
Intellectual disability syndromic and non-syndromic v0.2788 SMARCA2 Zornitza Stark Mode of pathogenicity for gene: SMARCA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.2787 SMARCA2 Zornitza Stark Mode of inheritance for gene: SMARCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.15 SMARCA2 Zornitza Stark Marked gene: SMARCA2 as ready
Blepharophimosis v0.15 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Blepharophimosis v0.15 SMARCA2 Zornitza Stark Classified gene: SMARCA2 as Green List (high evidence)
Blepharophimosis v0.15 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Mendeliome v0.3513 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Mendeliome v0.3513 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Mendeliome v0.3513 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability
Mendeliome v0.3512 MORC2 Zornitza Stark Publications for gene: MORC2 were set to
Mendeliome v0.3511 MORC2 Zornitza Stark Mode of inheritance for gene: MORC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3510 MORC2 Zornitza Stark reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32693025, 26497905, 26659848; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2786 MORC2 Zornitza Stark reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32693025; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2786 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Intellectual disability syndromic and non-syndromic v0.2786 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2786 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688 to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.2785 MORC2 Zornitza Stark Publications for gene: MORC2 were set to https://doi.org/10.1016/j.ajhg.2020.06.013
Intellectual disability syndromic and non-syndromic v0.2784 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2784 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2783 SMARCA2 Konstantinos Varvagiannis reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 26468571, 32694869; Phenotypes: Nicolaides-Baraitser syndrome, MIM #601358, Blepharophimosis-intellectual disability syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Blepharophimosis v0.14 SMARCA2 Konstantinos Varvagiannis gene: SMARCA2 was added
gene: SMARCA2 was added to Blepharophimosis. Sources: Literature
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA2 were set to 32694869
Phenotypes for gene: SMARCA2 were set to Blepharophimosis-intellectual disability syndrome (BIS)
Penetrance for gene: SMARCA2 were set to Complete
Mode of pathogenicity for gene: SMARCA2 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: SMARCA2 was set to GREEN
Added comment: Cappuccio et al (2020 - PMID: 32694869) report on individuals with de novo SMARCA2 variants with features of a novel, blepharophimosis-intellectual disability syndrome (BIS) but whose clinical presentation did not fit a diagnosis of Nicolaides-Baraitser (NB) syndrome.

Clinical details on 14 subjects with BIS were provided, DD/ID being a universal feature (14/14 - moderate to severe ID). Compared to other syndromes with blepharophimosis, lack of ptosis (observed in only 14% in this cohort), epicanthus inversus and limb abnormalities were proposed to distinguish BIS from other recognizable syndromes with blepharophimosis.

All individuals with BIS were found to harbor de novo missense variants. These clustered outside the helicase domain and localized within exons 8,9 and 19.

Few (6) additional individuals with de novo missense variants (in ex. 8, 14, 19) did not fit either diagnosis (NB or BIS) with the SNVs classified as VUS.

According to Cappuccio et al, most individuals with diagnosis of NB syndrome harbor variants spanning exons 15 to 25 [corresponding to the ATPase domain, which in turn is split in a Helicase ATP-Binding domain (720-912) and a helicase C-terminal domain (1080-1164)]. Most NB-associated variants are missense and rarely in-frame exon deletions.

As also commented on CNVs (deletions or duplications) encompassing SMARCA2 have been reported in individuals with DD/ID although these did not fit a diagnosis of NB syndrome (and CNVs were rather not intragenic/limited to SMARCA2) [cited PMIDs: 31530938, 28846756].

Transcriptomic and methylation signatures confirmed molecular stratification of affected individuals with SMARCA2-related disorders (and controls).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2783 MORC2 Konstantinos Varvagiannis gene: MORC2 was added
gene: MORC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MORC2 were set to https://doi.org/10.1016/j.ajhg.2020.06.013
Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688
Penetrance for gene: MORC2 were set to unknown
Mode of pathogenicity for gene: MORC2 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: MORC2 was set to GREEN
Added comment: The current review is based on a recent report by Sacoto et al (2020 - https://doi.org/10.1016/j.ajhg.2020.06.013).

While several previous studies focused on the phenotype of axonal motor and senory neuropathy in individuals with heterozygous MORC2 pathogenic variants (Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688) some of them presented among others with hypotonia, muscle weakness, intellectual disability, microcephaly or hearing loss [refs provided by Sacoto et al - learning disabilities (in some patients) also listed in OMIM's clinical synopsis].

Sacoto et al present a cohort of 20 individuals having genetic testing for developmental delay or growth failure (with a single one for a diagnosis of sensorimotor neuropathy).

Overlapping features included DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. The authors comment that features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5).

Affected subjects were found to harbor in all cases missense variants in the ATPase module of MORC2 [residues 1 to 494 - NM_001303256.1 - the module consists of an ATPase domain (aa 1-265), a transducer S5-like domain (266-494) and a coiled-coiled domain (CC1 - aa 282-361)].

Variants had occured mostly as de novo events although inheritance from a similarly affected parent was also reported.

Some of them were recurring within this cohort and/or the literature eg. c.79G>A/p.Glu27Lys (x5), c.260C>T/p.Ser87Leu (x2), c.394C>T/p.Arg132Cys (4x), c.1164C>G/p.Ser388Arg (x2), c.1181A>G/p.Tyr394Cys (x3).

MORC2 encodes an ATPase involved in chromatin remodeling, DNA repair and transcriptional regulation. Chromatin remodeling and epigenetic silencing by MORC2 is mediated by the HUSH (Human Silencing Hub) complex. Functional studies (MORC2-knockout HeLa cells harboring a HUSH-sensitive GFP reporter were transduced with wt or mt MORC2 followed by measurement of reporter repression) supported the deleterious effect of most variants known at the time (hyperactivation of HUSH-mediating silencing, in line with previous observations).

Overall this gene can be considered for inclusion in the ID panel with green rating. Also other gene panels (e.g. for short stature, microcephaly, hearing loss, pigmentary retinopathy, etc) if it meets the respective criteria for inclusion.
Sources: Literature
Mendeliome v0.3510 DBT Zornitza Stark Marked gene: DBT as ready
Mendeliome v0.3510 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Mendeliome v0.3510 DBT Zornitza Stark Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600)
Mendeliome v0.3509 DBT Zornitza Stark Publications for gene: DBT were set to
Mendeliome v0.3508 DBT Zornitza Stark Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.34 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Brain Calcification v0.34 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Brain Calcification v0.34 TINF2 Zornitza Stark Classified gene: TINF2 as Green List (high evidence)
Brain Calcification v0.34 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Brain Calcification v0.33 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TINF2 were set to 21477109; 18252230
Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130
Review for gene: TINF2 was set to GREEN
Added comment: Brain calcifications are part of the phenotype.
Sources: Expert list
Brain Calcification v0.32 TYROBP Zornitza Stark Marked gene: TYROBP as ready
Brain Calcification v0.32 TYROBP Zornitza Stark Gene: tyrobp has been classified as Green List (High Evidence).
Brain Calcification v0.32 TYROBP Zornitza Stark Classified gene: TYROBP as Green List (high evidence)
Brain Calcification v0.32 TYROBP Zornitza Stark Gene: tyrobp has been classified as Green List (High Evidence).
Brain Calcification v0.31 TYROBP Zornitza Stark gene: TYROBP was added
gene: TYROBP was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYROBP were set to 30242731
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770
Review for gene: TYROBP was set to GREEN
Added comment: Brain calcifications are part of the phenotype.
Sources: Expert list
Brain Calcification v0.30 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Brain Calcification v0.30 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence).
Brain Calcification v0.30 RNASET2 Zornitza Stark Classified gene: RNASET2 as Green List (high evidence)
Brain Calcification v0.30 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence).
Brain Calcification v0.29 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASET2 were set to 19525954
Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951
Review for gene: RNASET2 was set to GREEN
Added comment: Intracranial calcification is a feature of this condition.
Sources: Expert list
Brain Calcification v0.28 GALC Zornitza Stark Marked gene: GALC as ready
Brain Calcification v0.28 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Brain Calcification v0.28 GALC Zornitza Stark Classified gene: GALC as Green List (high evidence)
Brain Calcification v0.28 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Brain Calcification v0.27 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, MIM# 245200
Review for gene: GALC was set to GREEN
Added comment: Thalamus calcification is a feature of Krabbe disease.
Sources: Expert list
Brain Calcification v0.26 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Brain Calcification v0.26 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Brain Calcification v0.26 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis 2, MIM# 613254
Brain Calcification v0.25 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.24 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
Brain Calcification v0.24 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Brain Calcification v0.24 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Brain Calcification v0.24 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis 1, MIM# 191100
Brain Calcification v0.23 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.22 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
Brain Calcification v0.22 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Brain Calcification v0.22 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Brain Calcification v0.22 CYP2U1 Zornitza Stark Classified gene: CYP2U1 as Green List (high evidence)
Brain Calcification v0.22 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Brain Calcification v0.21 CYP2U1 Zornitza Stark gene: CYP2U1 was added
gene: CYP2U1 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 23176821
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, MIM# 615030
Review for gene: CYP2U1 was set to GREEN
Added comment: Established gene-disease association, basal ganglia calcification is a feature.
Sources: Expert list
Brain Calcification v0.20 ACP5 Zornitza Stark Marked gene: ACP5 as ready
Brain Calcification v0.20 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Brain Calcification v0.20 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Brain Calcification v0.20 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Brain Calcification v0.19 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 21217755; 21217752
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
Review for gene: ACP5 was set to GREEN
Added comment: Established gene-disease association, intracranial calcification is part of the phenotype.
Sources: Expert list
Mendeliome v0.3507 DBT Teresa Zhao reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20570198; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.52 CTSK Zornitza Stark Classified gene: CTSK as Green List (high evidence)
Lysosomal Storage Disorder v0.52 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.51 CTSK Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.51 Zornitza Stark removed gene:SLC2A2 from the panel
Mendeliome v0.3507 PLCB3 Zornitza Stark Marked gene: PLCB3 as ready
Mendeliome v0.3507 PLCB3 Zornitza Stark Gene: plcb3 has been classified as Red List (Low Evidence).
Mendeliome v0.3507 PLCB3 Zornitza Stark gene: PLCB3 was added
gene: PLCB3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCB3 were set to 29122926
Phenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961
Review for gene: PLCB3 was set to RED
Added comment: Single consanguineous family reported.
Sources: Expert list
Corneal Dystrophy v0.3 PLCB3 Zornitza Stark Marked gene: PLCB3 as ready
Corneal Dystrophy v0.3 PLCB3 Zornitza Stark Gene: plcb3 has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.3 PLCB3 Zornitza Stark gene: PLCB3 was added
gene: PLCB3 was added to Corneal Dystrophy. Sources: Expert list
Mode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCB3 were set to 29122926
Phenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961
Review for gene: PLCB3 was set to RED
Added comment: Single consanguineous family reported.
Sources: Expert list
Skeletal dysplasia v0.37 PLCB3 Zornitza Stark gene: PLCB3 was added
gene: PLCB3 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCB3 were set to 29122926
Phenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961
Review for gene: PLCB3 was set to RED
Added comment: Single consanguineous family reported.
Sources: Expert list
Deafness_IsolatedAndComplex v0.369 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Deafness_IsolatedAndComplex v0.369 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.369 ACOX1 Zornitza Stark Classified gene: ACOX1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.369 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.368 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACOX1 were set to 32169171
Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960
Review for gene: ACOX1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder.
Sources: Expert list
Hereditary Neuropathy v0.75 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Hereditary Neuropathy v0.75 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.75 ACOX1 Zornitza Stark Classified gene: ACOX1 as Green List (high evidence)
Hereditary Neuropathy v0.75 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.74 ACOX1 Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss.
Sources: Expert list; to: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder.
Sources: Expert list
Hereditary Neuropathy v0.74 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACOX1 were set to 32169171
Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960
Review for gene: ACOX1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss.
Sources: Expert list
Mendeliome v0.3506 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Mendeliome v0.3506 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Mendeliome v0.3506 ACOX1 Zornitza Stark Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960
Mendeliome v0.3505 ACOX1 Zornitza Stark Publications for gene: ACOX1 were set to
Mendeliome v0.3504 ACOX1 Zornitza Stark Mode of inheritance for gene: ACOX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3503 ACOX1 Zornitza Stark reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v0.106 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Heterotaxy v0.106 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.106 LZTFL1 Zornitza Stark Classified gene: LZTFL1 as Amber List (moderate evidence)
Heterotaxy v0.106 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.105 LRRC56 Zornitza Stark Marked gene: LRRC56 as ready
Heterotaxy v0.105 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Heterotaxy v0.105 LRRC56 Zornitza Stark Classified gene: LRRC56 as Green List (high evidence)
Heterotaxy v0.105 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Mendeliome v0.3503 MNS1 Zornitza Stark Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948
Mendeliome v0.3502 MNS1 Zornitza Stark edited their review of gene: MNS1: Changed phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948
Heterotaxy v0.104 MNS1 Zornitza Stark Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948
Heterotaxy v0.103 MNS1 Zornitza Stark edited their review of gene: MNS1: Changed phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility 618948
Lissencephaly and Band Heterotopia v0.43 Bryony Thompson Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Bone Marrow Failure v0.74 MPL Zornitza Stark Marked gene: MPL as ready
Bone Marrow Failure v0.74 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Bone Marrow Failure v0.74 MPL Zornitza Stark Phenotypes for gene: MPL were changed from to Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Bone Marrow Failure v0.73 MPL Zornitza Stark Publications for gene: MPL were set to
Bone Marrow Failure v0.72 MPL Zornitza Stark Mode of inheritance for gene: MPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.71 MPL Zornitza Stark reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28955303, 26423830; Phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3502 MPL Zornitza Stark Marked gene: MPL as ready
Mendeliome v0.3502 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Mendeliome v0.3502 MPL Zornitza Stark Phenotypes for gene: MPL were changed from to Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Mendeliome v0.3501 MPL Zornitza Stark Publications for gene: MPL were set to
Mendeliome v0.3500 MPL Zornitza Stark Mode of inheritance for gene: MPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3499 SH2B3 Zornitza Stark Marked gene: SH2B3 as ready
Mendeliome v0.3499 SH2B3 Zornitza Stark Gene: sh2b3 has been classified as Green List (High Evidence).
Mendeliome v0.3499 SH2B3 Zornitza Stark Phenotypes for gene: SH2B3 were changed from to Predisposition to haematological malignancies
Mendeliome v0.3498 SH2B3 Zornitza Stark Publications for gene: SH2B3 were set to
Mendeliome v0.3497 SH2B3 Zornitza Stark Mode of inheritance for gene: SH2B3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3496 SH2B3 Zornitza Stark changed review comment from: Germline variants reported in association with increased risk for haematological malignancies.; to: Germline variants reported in association with increased risk for haematological malignancies.
Mendeliome v0.3496 SH2B3 Zornitza Stark reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26457647, 23908464, 31102422, 31173385; Phenotypes: Predisposition to haematological malignancies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.21 SH2B3 Zornitza Stark Mode of inheritance for gene: SH2B3 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.20 SH2B3 Zornitza Stark Marked gene: SH2B3 as ready
Cancer Predisposition_Paediatric v0.20 SH2B3 Zornitza Stark Gene: sh2b3 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.20 SH2B3 Zornitza Stark Phenotypes for gene: SH2B3 were changed from to Predisposition to haematological malignancies
Cancer Predisposition_Paediatric v0.19 SH2B3 Zornitza Stark Publications for gene: SH2B3 were set to
Cancer Predisposition_Paediatric v0.19 SH2B3 Zornitza Stark Mode of inheritance for gene: SH2B3 was changed from Unknown to Other
Lysosomal Storage Disorder v0.50 Zornitza Stark removed gene:KCTD7 from the panel
Lysosomal Storage Disorder v0.49 Zornitza Stark removed gene:GRN from the panel
Lysosomal Storage Disorder v0.48 GNE Zornitza Stark Marked gene: GNE as ready
Lysosomal Storage Disorder v0.48 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.48 GNE Zornitza Stark Classified gene: GNE as Green List (high evidence)
Lysosomal Storage Disorder v0.48 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.47 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Nonaka myopathy, MIM# 605820
Review for gene: GNE was set to GREEN
Added comment: Myopathy characterised by rimmed vacuoles on biopsy.
Sources: Expert list
Lysosomal Storage Disorder v0.46 GM2A Zornitza Stark Marked gene: GM2A as ready
Lysosomal Storage Disorder v0.46 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.46 GM2A Zornitza Stark Classified gene: GM2A as Green List (high evidence)
Lysosomal Storage Disorder v0.46 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.45 GM2A Zornitza Stark gene: GM2A was added
gene: GM2A was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, MIM# 272750
Review for gene: GM2A was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Lysosomal Storage Disorder v0.44 Zornitza Stark removed gene:EPM2A from the panel
Lysosomal Storage Disorder v0.43 CTSF Zornitza Stark Marked gene: CTSF as ready
Lysosomal Storage Disorder v0.43 CTSF Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.43 CTSF Zornitza Stark Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362
Lysosomal Storage Disorder v0.42 CTSF Zornitza Stark Publications for gene: CTSF were set to
Lysosomal Storage Disorder v0.41 CTSF Zornitza Stark Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.40 CTSF Zornitza Stark reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28749476, 27668283, 27524508; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.40 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Lysosomal Storage Disorder v0.40 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.40 ATP13A2 Zornitza Stark Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive 617225
Lysosomal Storage Disorder v0.39 ATP13A2 Zornitza Stark Publications for gene: ATP13A2 were set to
Lysosomal Storage Disorder v0.38 ATP13A2 Zornitza Stark Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.37 ATP13A2 Zornitza Stark reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 31996848; Phenotypes: Spastic paraplegia 78, autosomal recessive 617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3496 MPL Chern Lim reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28955303, 26423830; Phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cancer Predisposition_Paediatric v0.18 SH2B3 Chern Lim reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26457647, 23908464, 31102422, 31173385; Phenotypes: Predisposition to haematological malignancies; Mode of inheritance: Other
Mendeliome v0.3496 HPD Zornitza Stark Marked gene: HPD as ready
Mendeliome v0.3496 HPD Zornitza Stark Gene: hpd has been classified as Green List (High Evidence).
Mendeliome v0.3496 HPD Zornitza Stark Phenotypes for gene: HPD were changed from to Hawkinsinuria (MIM#140350), AD; Tyrosinemia type III (MIM#276710), AR
Mendeliome v0.3495 HPD Zornitza Stark Publications for gene: HPD were set to
Mendeliome v0.3494 HPD Zornitza Stark Mode of inheritance for gene: HPD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.3493 HPD Zornitza Stark reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942115, 17560158; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.7 HPD Teresa Zhao reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942115, 17560158; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Radial Ray Abnormalities v0.70 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.3493 FANCM Zornitza Stark Marked gene: FANCM as ready
Mendeliome v0.3493 FANCM Zornitza Stark Gene: fancm has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3493 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from to Spermatogenic failure 28, MIM# 618086
Mendeliome v0.3492 FANCM Zornitza Stark Publications for gene: FANCM were set to
Mendeliome v0.3491 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3490 FANCM Zornitza Stark Classified gene: FANCM as Amber List (moderate evidence)
Mendeliome v0.3490 FANCM Zornitza Stark Gene: fancm has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3489 FANCM Zornitza Stark reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: None; Publications: 30075111, 29895858, 28837162; Phenotypes: Spermatogenic failure 28, MIM# 618086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.71 FANCM Zornitza Stark Tag refuted tag was added to gene: FANCM.
Cancer Predisposition_Paediatric v0.18 FANCM Zornitza Stark Marked gene: FANCM as ready
Cancer Predisposition_Paediatric v0.18 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.18 FANCM Zornitza Stark Tag refuted tag was added to gene: FANCM.
Cancer Predisposition_Paediatric v0.18 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia
Cancer Predisposition_Paediatric v0.17 FANCM Zornitza Stark Publications for gene: FANCM were set to
Cancer Predisposition_Paediatric v0.16 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.15 FANCM Zornitza Stark Classified gene: FANCM as Red List (low evidence)
Cancer Predisposition_Paediatric v0.15 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.14 FANCM Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.19 FANCM Zornitza Stark Tag refuted tag was added to gene: FANCM.
Chromosome Breakage Disorders v0.19 FANCM Zornitza Stark Marked gene: FANCM as ready
Chromosome Breakage Disorders v0.19 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.19 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia
Chromosome Breakage Disorders v0.18 FANCM Zornitza Stark Publications for gene: FANCM were set to
Chromosome Breakage Disorders v0.17 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.16 FANCM Zornitza Stark Classified gene: FANCM as Red List (low evidence)
Chromosome Breakage Disorders v0.16 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.15 FANCM Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.69 FANCM Zornitza Stark Tag refuted tag was added to gene: FANCM.
Bone Marrow Failure v0.71 FANCM Zornitza Stark Marked gene: FANCM as ready
Bone Marrow Failure v0.71 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.71 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia
Bone Marrow Failure v0.70 FANCM Zornitza Stark Publications for gene: FANCM were set to
Bone Marrow Failure v0.69 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.68 FANCM Zornitza Stark Classified gene: FANCM as Red List (low evidence)
Bone Marrow Failure v0.68 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.67 FANCM Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.69 FANCM Zornitza Stark Marked gene: FANCM as ready
Radial Ray Abnormalities v0.69 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.69 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia
Radial Ray Abnormalities v0.68 FANCM Zornitza Stark Publications for gene: FANCM were set to
Radial Ray Abnormalities v0.67 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.66 FANCM Zornitza Stark Classified gene: FANCM as Red List (low evidence)
Radial Ray Abnormalities v0.66 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.65 FANCM Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.65 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR2 were set to LADD syndrome, MIM#149730
Review for gene: FGFR2 was set to GREEN
Added comment: Well established gene-disease association. Radial ray abnormalities are a feature of LADD syndrome.
Sources: Expert list
Radial Ray Abnormalities v0.64 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Radial Ray Abnormalities v0.64 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.64 FGFR3 Zornitza Stark Classified gene: FGFR3 as Green List (high evidence)
Radial Ray Abnormalities v0.64 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.63 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to LADD syndrome, MIM#149730
Review for gene: FGFR3 was set to GREEN
Added comment: Well established gene-disease association. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome.
Sources: Expert list
Radial Ray Abnormalities v0.62 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Radial Ray Abnormalities v0.62 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.62 FIG4 Zornitza Stark Classified gene: FIG4 as Green List (high evidence)
Radial Ray Abnormalities v0.62 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.61 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 23623387
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, MIM# 216340
Review for gene: FIG4 was set to GREEN
Added comment: Absent thumbs are a feature of Yunis-Varon syndrome.
Sources: Expert list
Radial Ray Abnormalities v0.60 FLNA Zornitza Stark Marked gene: FLNA as ready
Radial Ray Abnormalities v0.60 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.60 FLNA Zornitza Stark Classified gene: FLNA as Green List (high evidence)
Radial Ray Abnormalities v0.60 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.59 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: FLNA 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: FLNA were set to 12612583
Phenotypes for gene: FLNA were set to Melnick-Needles syndrome, 309350
Review for gene: FLNA was set to GREEN
Added comment: Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs
Sources: Expert list
Radial Ray Abnormalities v0.58 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Radial Ray Abnormalities v0.58 GATA1 Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.58 GATA1 Zornitza Stark Classified gene: GATA1 as Red List (low evidence)
Radial Ray Abnormalities v0.58 GATA1 Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.57 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital diaphragmatic hernia v0.5 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Congenital diaphragmatic hernia v0.5 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.5 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882
Congenital diaphragmatic hernia v0.4 HDAC8 Zornitza Stark Publications for gene: HDAC8 were set to
Congenital diaphragmatic hernia v0.3 HDAC8 Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital diaphragmatic hernia v0.2 HDAC8 Zornitza Stark Classified gene: HDAC8 as Red List (low evidence)
Congenital diaphragmatic hernia v0.2 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.1 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: RED; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrichosis syndromes v0.16 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Hypertrichosis syndromes v0.16 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.16 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882
Hypertrichosis syndromes v0.15 HDAC8 Zornitza Stark Publications for gene: HDAC8 were set to
Hypertrichosis syndromes v0.14 HDAC8 Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrichosis syndromes v0.13 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.3489 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Mendeliome v0.3489 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Mendeliome v0.3489 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882
Mendeliome v0.3488 HDAC8 Zornitza Stark Publications for gene: HDAC8 were set to
Mendeliome v0.3487 HDAC8 Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.3486 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2783 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Intellectual disability syndromic and non-syndromic v0.2783 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2783 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882
Intellectual disability syndromic and non-syndromic v0.2782 HDAC8 Zornitza Stark Publications for gene: HDAC8 were set to
Intellectual disability syndromic and non-syndromic v0.2781 HDAC8 Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2780 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Radial Ray Abnormalities v0.57 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Radial Ray Abnormalities v0.57 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.57 HDAC8 Zornitza Stark Classified gene: HDAC8 as Green List (high evidence)
Radial Ray Abnormalities v0.57 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.56 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: HDAC8 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: HDAC8 were set to 30614194; 24403048
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, MIM# 300882
Review for gene: HDAC8 was set to GREEN
Added comment: Well established CdL gene.
Sources: Expert list
Radial Ray Abnormalities v0.55 HOXA13 Zornitza Stark Marked gene: HOXA13 as ready
Radial Ray Abnormalities v0.55 HOXA13 Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.55 HOXA13 Zornitza Stark Classified gene: HOXA13 as Green List (high evidence)
Radial Ray Abnormalities v0.55 HOXA13 Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.54 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOXA13 were set to Hand-foot-uterus syndrome, MIM# 140000
Review for gene: HOXA13 was set to GREEN
Added comment: Well established gene-disease association, hypoplastic thumbs reported.
Sources: Expert list
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Marked gene: LMBR1 as ready
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Classified gene: LMBR1 as Green List (high evidence)
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.52 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Radial Ray Abnormalities. Sources: Expert list
SV/CNV tags were added to gene: LMBR1.
Mode of inheritance for gene: LMBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMBR1 were set to Laurin-Sandrow syndrome, MIM# 135750
Review for gene: LMBR1 was set to GREEN
Added comment: Radial aplasia but with ulnar dimelia. Reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb.
Sources: Expert list
Radial Ray Abnormalities v0.51 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Radial Ray Abnormalities v0.51 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.51 NIPBL Zornitza Stark Classified gene: NIPBL as Green List (high evidence)
Radial Ray Abnormalities v0.51 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.50 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1, MIM# 122470
Review for gene: NIPBL was set to GREEN
Added comment: Well established gene-disease association. Radial ray abnormalities are a key part of the phenotype.
Sources: Expert list
Radial Ray Abnormalities v0.49 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Radial Ray Abnormalities v0.49 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.49 RAD21 Zornitza Stark Classified gene: RAD21 as Green List (high evidence)
Radial Ray Abnormalities v0.49 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.48 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 32193685
Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, MIM# 614701
Review for gene: RAD21 was set to GREEN
Added comment: Recent large series of over 40 affected individuals published. Radial ray abnormalities are part of the phenotype.
Sources: Expert list
Radial Ray Abnormalities v0.47 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Radial Ray Abnormalities v0.47 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.47 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Radial Ray Abnormalities v0.46 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Radial Ray Abnormalities v0.45 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.44 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3486 RBM8A Zornitza Stark Tag SV/CNV tag was added to gene: RBM8A.
Mendeliome v0.3486 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Mendeliome v0.3486 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Mendeliome v0.3486 RBM8A Zornitza Stark Phenotypes for gene: RBM8A were changed from to Thrombocytopenia-absent radius syndrome, MIM# 274000
Mendeliome v0.3485 RBM8A Zornitza Stark Mode of inheritance for gene: RBM8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3484 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM# 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.67 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Bone Marrow Failure v0.67 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Bone Marrow Failure v0.67 RBM8A Zornitza Stark Phenotypes for gene: RBM8A were changed from to Thrombocytopenia-absent radius syndrome, MIM# 274000
Bone Marrow Failure v0.66 RBM8A Zornitza Stark Mode of inheritance for gene: RBM8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.65 RBM8A Zornitza Stark Tag SV/CNV tag was added to gene: RBM8A.
Bone Marrow Failure v0.65 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM# 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.44 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Radial Ray Abnormalities v0.44 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.44 RBM8A Zornitza Stark Classified gene: RBM8A as Green List (high evidence)
Radial Ray Abnormalities v0.44 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.43 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Radial Ray Abnormalities. Sources: Expert list
SV/CNV tags were added to gene: RBM8A.
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
Review for gene: RBM8A was set to GREEN
Added comment: Vast majority are due to a recurrent 200kb deletion on one allele (although truncations are seen) and the presence of 1 of 2 SNPs in trans. The SNPs have a MAF of 3.05% and 0.42%.
Sources: Expert list
Radial Ray Abnormalities v0.42 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Radial Ray Abnormalities v0.42 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.42 RECQL4 Zornitza Stark Classified gene: RECQL4 as Green List (high evidence)
Radial Ray Abnormalities v0.42 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.41 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400
Review for gene: RECQL4 was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are a key feature.
Sources: Expert list
Mendeliome v0.3484 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Mendeliome v0.3484 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Mendeliome v0.3484 RPL15 Zornitza Stark Phenotypes for gene: RPL15 were changed from to Diamond-Blackfan anemia 12, MIM# 615550
Mendeliome v0.3483 RPL15 Zornitza Stark Publications for gene: RPL15 were set to
Mendeliome v0.3482 RPL15 Zornitza Stark Mode of inheritance for gene: RPL15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3481 RPL15 Zornitza Stark reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: None; Publications: 23812780, 29599205; Phenotypes: Diamond-Blackfan anemia 12, MIM# 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.16 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Diamond Blackfan anaemia v0.16 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.16 RPL15 Zornitza Stark Phenotypes for gene: RPL15 were changed from Diamond-Blackfan anemia 12, MIM# 615550 to Diamond-Blackfan anemia 12, MIM# 615550
Diamond Blackfan anaemia v0.16 RPL15 Zornitza Stark Phenotypes for gene: RPL15 were changed from to Diamond-Blackfan anemia 12, MIM# 615550
Radial Ray Abnormalities v0.40 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Radial Ray Abnormalities v0.40 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.15 RPL15 Zornitza Stark Publications for gene: RPL15 were set to
Diamond Blackfan anaemia v0.14 RPL15 Zornitza Stark Mode of inheritance for gene: RPL15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.13 RPL15 Zornitza Stark reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: None; Publications: 23812780, 29599205; Phenotypes: Diamond-Blackfan anemia 12, MIM# 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.40 RPL15 Zornitza Stark Classified gene: RPL15 as Green List (high evidence)
Radial Ray Abnormalities v0.40 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.39 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to 23812780; 29599205
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550
Review for gene: RPL15 was set to GREEN
Added comment: Seven unrelated individuals reported to date.
Sources: Expert list
Pierre Robin Sequence v0.12 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Pierre Robin Sequence v0.12 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.12 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Pierre Robin Sequence v0.11 RPS28 Zornitza Stark Publications for gene: RPS28 were set to
Pierre Robin Sequence v0.10 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.9 RPS28 Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence)
Pierre Robin Sequence v0.9 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.8 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3481 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Mendeliome v0.3481 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3481 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Mendeliome v0.3480 RPS28 Zornitza Stark Publications for gene: RPS28 were set to
Mendeliome v0.3479 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3478 RPS28 Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence)
Mendeliome v0.3478 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3477 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.10 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Mandibulofacial Acrofacial dysostosis v0.10 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Mandibulofacial Acrofacial dysostosis v0.10 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Mandibulofacial Acrofacial dysostosis v0.9 RPS28 Zornitza Stark Publications for gene: RPS28 were set to
Mandibulofacial Acrofacial dysostosis v0.8 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.7 RPS28 Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence)
Mandibulofacial Acrofacial dysostosis v0.7 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Mandibulofacial Acrofacial dysostosis v0.6 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.13 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Diamond Blackfan anaemia v0.13 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.13 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Diamond Blackfan anaemia v0.12 RPS28 Zornitza Stark Publications for gene: RPS28 were set to
Diamond Blackfan anaemia v0.11 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.10 RPS28 Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.10 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.9 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.38 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Radial Ray Abnormalities v0.38 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.38 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Radial Ray Abnormalities v0.37 RPS28 Zornitza Stark Publications for gene: RPS28 were set to
Radial Ray Abnormalities v0.36 RPS28 Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.35 RPS28 Zornitza Stark Classified gene: RPS28 as Red List (low evidence)
Radial Ray Abnormalities v0.35 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.34 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3477 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Mendeliome v0.3477 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3477 RPS29 Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909
Mendeliome v0.3476 RPS29 Zornitza Stark Publications for gene: RPS29 were set to
Mendeliome v0.3475 RPS29 Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3474 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Mendeliome v0.3474 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3473 RPS29 Zornitza Stark reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.65 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Bone Marrow Failure v0.65 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.65 RPS29 Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909
Bone Marrow Failure v0.64 RPS29 Zornitza Stark Publications for gene: RPS29 were set to
Bone Marrow Failure v0.63 RPS29 Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.62 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Bone Marrow Failure v0.62 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.61 RPS29 Zornitza Stark reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.9 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Diamond Blackfan anaemia v0.9 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.9 RPS29 Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909
Diamond Blackfan anaemia v0.8 RPS29 Zornitza Stark Publications for gene: RPS29 were set to
Diamond Blackfan anaemia v0.7 RPS29 Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.6 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.6 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.5 RPS29 Zornitza Stark reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark Deleted their comment
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark commented on gene: RPS29: Two families reported in 2014, none since.
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v0.34 RPS29 Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909
Radial Ray Abnormalities v0.33 RPS29 Zornitza Stark Publications for gene: RPS29 were set to
Radial Ray Abnormalities v0.32 RPS29 Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.31 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Radial Ray Abnormalities v0.31 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v0.30 RPS29 Zornitza Stark edited their review of gene: RPS29: Changed rating: AMBER
Radial Ray Abnormalities v0.30 RPS29 Zornitza Stark reviewed gene: RPS29: Rating: ; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.30 SF3B4 Zornitza Stark Marked gene: SF3B4 as ready
Radial Ray Abnormalities v0.30 SF3B4 Zornitza Stark Gene: sf3b4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.30 SF3B4 Zornitza Stark Classified gene: SF3B4 as Green List (high evidence)
Radial Ray Abnormalities v0.30 SF3B4 Zornitza Stark Gene: sf3b4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.29 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF3B4 were set to 22541558
Phenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type, MIM# 154400
Review for gene: SF3B4 was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are a key feature.
Sources: Expert list
Radial Ray Abnormalities v0.28 SHOX Zornitza Stark Marked gene: SHOX as ready
Radial Ray Abnormalities v0.28 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.28 SHOX Zornitza Stark Classified gene: SHOX as Green List (high evidence)
Radial Ray Abnormalities v0.28 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.27 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: SHOX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700
Review for gene: SHOX was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are a key feature.
Sources: Expert list
Radial Ray Abnormalities v0.26 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Radial Ray Abnormalities v0.26 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Radial Ray Abnormalities v0.26 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.26 SMC1A Zornitza Stark Classified gene: SMC1A as Green List (high evidence)
Radial Ray Abnormalities v0.26 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.25 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM# 300590
Review for gene: SMC1A was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype. XLD.
Sources: Expert list
Radial Ray Abnormalities v0.24 SMC3 Zornitza Stark edited their review of gene: SMC3: Changed publications: 25125236, 25655089; Changed phenotypes: Cornelia de Lange syndrome 3, MIM# 610759
Radial Ray Abnormalities v0.24 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Radial Ray Abnormalities v0.24 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.24 SMC3 Zornitza Stark Publications for gene: SMC3 were set to 25125236
Radial Ray Abnormalities v0.23 SMC3 Zornitza Stark Classified gene: SMC3 as Green List (high evidence)
Radial Ray Abnormalities v0.23 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.22 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMC3 were set to 25125236
Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM# 610759
Review for gene: SMC3 was set to GREEN
Added comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype.
Sources: Expert list
Radial Ray Abnormalities v0.21 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Radial Ray Abnormalities v0.21 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.21 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Radial Ray Abnormalities v0.21 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.20 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368; 26085575; 26119737
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435
Review for gene: UBE2T was set to GREEN
Added comment: At least three families reported, including with radial ray abnormalities. Note some of the variants are CNVs.
Sources: Expert list
Radial Ray Abnormalities v0.19 WNT7A Zornitza Stark Marked gene: WNT7A as ready
Radial Ray Abnormalities v0.19 WNT7A Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.19 WNT7A Zornitza Stark Classified gene: WNT7A as Green List (high evidence)
Radial Ray Abnormalities v0.19 WNT7A Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence).