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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).
Radial Ray Abnormalities v0.18 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7A were set to 21344627; 20949531; 16826533
Phenotypes for gene: WNT7A were set to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
Review for gene: WNT7A was set to GREEN
Added comment: Although WNT7A-related conditions cause ulnar abnormalities, include in this panel due to phenotypic overlap (single forearm bone may be difficult to distinguish, particularly in non-specialist setting).
Sources: Expert list
Radial Ray Abnormalities v0.17 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Radial Ray Abnormalities v0.17 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.17 ZIC3 Zornitza Stark Classified gene: ZIC3 as Green List (high evidence)
Radial Ray Abnormalities v0.17 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.16 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Radial Ray Abnormalities. Sources: Expert list
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZIC3 were set to 21465648; 20452998; 26294094
Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked 314390
Review for gene: ZIC3 was set to GREEN
Added comment: Several families reported with VACTERL-H association, gene is also linked to laterality defects and isolated congenital heart disease.
Sources: Expert list
Mendeliome v0.3473 UMOD Zornitza Stark Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3472 UMOD Zornitza Stark edited their review of gene: UMOD: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v0.22 MUC1 Zornitza Stark Marked gene: MUC1 as ready
Renal Tubulointerstitial Disease v0.22 MUC1 Zornitza Stark Gene: muc1 has been classified as Green List (High Evidence).
Renal Tubulointerstitial Disease v0.22 MUC1 Zornitza Stark Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1, MIM# 174000
Renal Tubulointerstitial Disease v0.21 MUC1 Zornitza Stark Publications for gene: MUC1 were set to
Renal Tubulointerstitial Disease v0.20 MUC1 Zornitza Stark Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v0.19 MUC1 Zornitza Stark reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23396133; Phenotypes: Medullary cystic kidney disease 1, MIM# 174000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3472 REN Zornitza Stark Marked gene: REN as ready
Mendeliome v0.3472 REN Zornitza Stark Gene: ren has been classified as Green List (High Evidence).
Mendeliome v0.3472 REN Zornitza Stark Phenotypes for gene: REN were changed from to Renal tubular dysgenesis, MIM# 267430; Autosomal dominant tubulointerstitial disease
Mendeliome v0.3471 REN Zornitza Stark Publications for gene: REN were set to
Mendeliome v0.3470 REN Zornitza Stark Mode of inheritance for gene: REN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3469 REN Zornitza Stark reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 31586593, 31406136, 28701203, 21473025; Phenotypes: Renal tubular dysgenesis, MIM# 267430, Autosomal dominant tubulointerstitial disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulointerstitial Disease v0.19 REN Zornitza Stark Marked gene: REN as ready
Renal Tubulointerstitial Disease v0.19 REN Zornitza Stark Gene: ren has been classified as Green List (High Evidence).
Renal Tubulointerstitial Disease v0.19 REN Zornitza Stark Phenotypes for gene: REN were changed from to Autosomal dominant tubulointerstitial disease
Renal Tubulointerstitial Disease v0.18 REN Zornitza Stark Publications for gene: REN were set to
Renal Tubulointerstitial Disease v0.17 REN Zornitza Stark Mode of inheritance for gene: REN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v0.16 REN Zornitza Stark reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586593, 31406136, 28701203, 21473025; Phenotypes: Autosomal dominant tubulointerstitial disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3469 MDH1 Zornitza Stark Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959
Mendeliome v0.3468 MDH1 Zornitza Stark edited their review of gene: MDH1: Changed phenotypes: epilepsy, microcephaly, intellectual disability, Epileptic encephalopathy, early infantile, 88, MIM#618959
Genetic Epilepsy v0.760 MDH1 Zornitza Stark Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959
Genetic Epilepsy v0.759 MDH1 Zornitza Stark reviewed gene: MDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31538237,; Phenotypes: Epileptic encephalopathy, early infantile, 88, MIM#618959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3468 IL6R Zornitza Stark Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944
Mendeliome v0.3467 IL6R Zornitza Stark edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944
Combined Immunodeficiency v0.159 IL6R Zornitza Stark Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944
Combined Immunodeficiency v0.158 IL6R Zornitza Stark edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944
Glycogen Storage Diseases v0.20 GAA Zornitza Stark Marked gene: GAA as ready
Glycogen Storage Diseases v0.20 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.20 GAA Zornitza Stark Phenotypes for gene: GAA were changed from to Glycogen storage disease II (MIM#232300)
Glycogen Storage Diseases v0.19 GAA Zornitza Stark Publications for gene: GAA were set to
Glycogen Storage Diseases v0.18 GAA Zornitza Stark Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.17 RBCK1 Zornitza Stark Marked gene: RBCK1 as ready
Glycogen Storage Diseases v0.17 RBCK1 Zornitza Stark Gene: rbck1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.37 Zornitza Stark removed gene:PYGM from the panel
Lysosomal Storage Disorder v0.36 Zornitza Stark removed gene:PYGL from the panel
Lysosomal Storage Disorder v0.35 Zornitza Stark removed gene:PRKAG2 from the panel
Lysosomal Storage Disorder v0.34 Zornitza Stark removed gene:PHKA2 from the panel
Lysosomal Storage Disorder v0.33 Zornitza Stark removed gene:PGM1 from the panel
Lysosomal Storage Disorder v0.32 Zornitza Stark removed gene:PGK1 from the panel
Lysosomal Storage Disorder v0.31 Zornitza Stark removed gene:PGAM2 from the panel
Lysosomal Storage Disorder v0.30 Zornitza Stark removed gene:PFKM from the panel
Lysosomal Storage Disorder v0.29 Zornitza Stark removed gene:LDHA from the panel
Lysosomal Storage Disorder v0.28 Zornitza Stark removed gene:GYS2 from the panel
Lysosomal Storage Disorder v0.27 Zornitza Stark removed gene:GYS1 from the panel
Lysosomal Storage Disorder v0.26 Zornitza Stark removed gene:GYG1 from the panel
Lysosomal Storage Disorder v0.25 Zornitza Stark removed gene:GBE1 from the panel
Lysosomal Storage Disorder v0.24 Zornitza Stark removed gene:G6PC from the panel
Lysosomal Storage Disorder v0.23 Zornitza Stark removed gene:ENO3 from the panel
Lysosomal Storage Disorder v0.22 Zornitza Stark removed gene:ALDOA from the panel
Lysosomal Storage Disorder v0.21 Zornitza Stark removed gene:AGL from the panel
Lysosomal Storage Disorder v0.20 Zornitza Stark removed gene:SLC37A4 from the panel
Lysosomal Storage Disorder v0.19 Zornitza Stark Panel name changed from Storage Disorder to Lysosomal Storage Disorder
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.3467 UVSSA Zornitza Stark Marked gene: UVSSA as ready
Mendeliome v0.3467 UVSSA Zornitza Stark Gene: uvssa has been classified as Green List (High Evidence).
Mendeliome v0.3467 UVSSA Zornitza Stark Phenotypes for gene: UVSSA were changed from to UV-sensitive syndrome 3 (MIM#614640)
Mendeliome v0.3466 UVSSA Zornitza Stark Publications for gene: UVSSA were set to
Mendeliome v0.3465 UVSSA Zornitza Stark Mode of inheritance for gene: UVSSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3464 SEC23A Zornitza Stark Marked gene: SEC23A as ready
Mendeliome v0.3464 SEC23A Zornitza Stark Gene: sec23a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3464 SEC23A Zornitza Stark Phenotypes for gene: SEC23A were changed from to Craniolenticulosutural dysplasia (MIM# 607812)
Mendeliome v0.3463 SEC23A Zornitza Stark Publications for gene: SEC23A were set to
Mendeliome v0.3462 SEC23A Zornitza Stark Mode of inheritance for gene: SEC23A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3461 SEC23A Zornitza Stark Classified gene: SEC23A as Amber List (moderate evidence)
Mendeliome v0.3461 SEC23A Zornitza Stark Gene: sec23a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3460 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Mendeliome v0.3460 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Mendeliome v0.3460 DACT1 Zornitza Stark Phenotypes for gene: DACT1 were changed from ?Townes-Brocks syndrome 2 (OMIM #617466) to Townes-Brocks syndrome 2 (OMIM #617466)
Mendeliome v0.3459 DACT1 Zornitza Stark Classified gene: DACT1 as Red List (low evidence)
Mendeliome v0.3459 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Mendeliome v0.3458 VPS33A Zornitza Stark Marked gene: VPS33A as ready
Mendeliome v0.3458 VPS33A Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3458 VPS33A Zornitza Stark Phenotypes for gene: VPS33A were changed from to Mucopolysaccharidosis-plus syndrome (MIM#617303)
Mendeliome v0.3457 VPS33A Zornitza Stark Publications for gene: VPS33A were set to
Mendeliome v0.3456 VPS33A Zornitza Stark Mode of inheritance for gene: VPS33A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3455 VPS33A Zornitza Stark Classified gene: VPS33A as Amber List (moderate evidence)
Mendeliome v0.3455 VPS33A Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3454 VPS33A Zornitza Stark reviewed gene: VPS33A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28013294, 27547915; Phenotypes: Mucopolysaccharidosis-plus syndrome (MIM#617303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.18 VPS33A Zornitza Stark Marked gene: VPS33A as ready
Lysosomal Storage Disorder v0.18 VPS33A Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.18 VPS33A Zornitza Stark Phenotypes for gene: VPS33A were changed from to Mucopolysaccharidosis-plus syndrome (MIM#617303)
Lysosomal Storage Disorder v0.17 VPS33A Zornitza Stark Publications for gene: VPS33A were set to
Lysosomal Storage Disorder v0.16 VPS33A Zornitza Stark Mode of inheritance for gene: VPS33A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.15 VPS33A Zornitza Stark Classified gene: VPS33A as Amber List (moderate evidence)
Lysosomal Storage Disorder v0.15 VPS33A Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.14 CTNS Zornitza Stark Marked gene: CTNS as ready
Lysosomal Storage Disorder v0.14 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.14 CTNS Zornitza Stark Classified gene: CTNS as Green List (high evidence)
Lysosomal Storage Disorder v0.14 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.13 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Lysosomal Storage Disorder v0.13 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.13 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome (MIM#227810)
Lysosomal Storage Disorder v0.12 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to
Lysosomal Storage Disorder v0.11 SLC2A2 Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.17 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Glycogen Storage Diseases v0.17 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.17 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib (MIM#232220); Glycogen storage disease Ic (MIM#232240)
Glycogen Storage Diseases v0.16 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to
Glycogen Storage Diseases v0.15 SLC37A4 Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.14 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Glycogen Storage Diseases v0.14 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.14 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome (MIM#227810)
Glycogen Storage Diseases v0.13 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to
Glycogen Storage Diseases v0.12 SLC2A2 Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.15 FGF10 Zornitza Stark Marked gene: FGF10 as ready
Radial Ray Abnormalities v0.15 FGF10 Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.15 FGF10 Zornitza Stark Classified gene: FGF10 as Green List (high evidence)
Radial Ray Abnormalities v0.15 FGF10 Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.148 LFNG Zornitza Stark Marked gene: LFNG as ready
Congenital Disorders of Glycosylation v0.148 LFNG Zornitza Stark Gene: lfng has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.148 LFNG Zornitza Stark Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813
Congenital Disorders of Glycosylation v0.147 LFNG Zornitza Stark Publications for gene: LFNG were set to
Congenital Disorders of Glycosylation v0.146 LFNG Zornitza Stark Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.145 LFNG Zornitza Stark Classified gene: LFNG as Green List (high evidence)
Congenital Disorders of Glycosylation v0.145 LFNG Zornitza Stark Gene: lfng has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark edited their review of gene: LFNG: Changed rating: GREEN
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark changed review comment from: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. Two unrelated individuals reported.; to: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. Two unrelated individuals reported and two mouse models.
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark edited their review of gene: LFNG: Changed publications: 9690472, 16385447, 30531807, 9690473
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark Classified gene: LFNG as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark Gene: lfng has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.143 LFNG Zornitza Stark reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: None; Publications: 16385447, 30531807; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.143 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Congenital Disorders of Glycosylation v0.143 DHDDS Zornitza Stark Gene: dhdds has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.143 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from to Congenital disorder of glycosylation, type 1bb, MIM# 613861
Congenital Disorders of Glycosylation v0.142 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Congenital Disorders of Glycosylation v0.141 DHDDS Zornitza Stark Mode of inheritance for gene: DHDDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.140 DHDDS Zornitza Stark Classified gene: DHDDS as Red List (low evidence)
Congenital Disorders of Glycosylation v0.140 DHDDS Zornitza Stark Gene: dhdds has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.139 DHDDS Zornitza Stark edited their review of gene: DHDDS: Changed rating: RED
Congenital Disorders of Glycosylation v0.139 DHDDS Zornitza Stark reviewed gene: DHDDS: Rating: ; Mode of pathogenicity: None; Publications: 27343064; Phenotypes: Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3454 COG2 Zornitza Stark Marked gene: COG2 as ready
Mendeliome v0.3454 COG2 Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence).
Mendeliome v0.3454 COG2 Zornitza Stark Phenotypes for gene: COG2 were changed from to Congenital disorder of glycosylation, type IIq (MIM# 617395)
Mendeliome v0.3453 COG2 Zornitza Stark Publications for gene: COG2 were set to
Mendeliome v0.3452 COG2 Zornitza Stark Mode of inheritance for gene: COG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3451 COG2 Zornitza Stark Classified gene: COG2 as Red List (low evidence)
Mendeliome v0.3451 COG2 Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.139 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation
Congenital Disorders of Glycosylation v0.138 ALG14 Zornitza Stark edited their review of gene: ALG14: Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual disability, Disorder of N-glycosylation
Congenital Disorders of Glycosylation v0.138 ALG14 Zornitza Stark changed review comment from: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.; to: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation
Radial Ray Abnormalities v0.14 FGF10 Natalie Tan gene: FGF10 was added
gene: FGF10 was added to Radial Ray Abnormalities. Sources: NHS GMS
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF10 were set to PMID: 15654336; 16501574; 16630169; 17682060
Phenotypes for gene: FGF10 were set to Lacrimoauriculodentodigital syndrome (149730); Aplasia of lacrimal and salivary glands (180920)
Review for gene: FGF10 was set to GREEN
Added comment: Multiple unrelated individuals with heterozygous variants reported in association with LADD syndrome, which manifests variable radial ray features. Allelic condition: aplasia of lacrimal and salivary glands.
Sources: NHS GMS
Congenital Disorders of Glycosylation v0.138 B4GALNT1 Zornitza Stark Marked gene: B4GALNT1 as ready
Congenital Disorders of Glycosylation v0.138 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.138 B4GALNT1 Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive (MIM #609195)
Congenital Disorders of Glycosylation v0.137 B4GALNT1 Zornitza Stark Publications for gene: B4GALNT1 were set to
Congenital Disorders of Glycosylation v0.136 B4GALNT1 Zornitza Stark Mode of inheritance for gene: B4GALNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.11 SLC2A2 Crystle Lee reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome (MIM#227810); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.11 SLC37A4 Crystle Lee reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28224773, 31508908, 32005221; Phenotypes: Glycogen storage disease Ib (MIM#232220), Glycogen storage disease Ic (MIM#232240); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3450 COG2 Ain Roesley reviewed gene: COG2: Rating: RED; Mode of pathogenicity: None; Publications: 24784932; Phenotypes: Congenital disorder of glycosylation, type IIq (MIM# 617395); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.135 COG2 Zornitza Stark Marked gene: COG2 as ready
Congenital Disorders of Glycosylation v0.135 COG2 Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence).
Lysosomal Storage Disorder v0.10 SLC2A2 Crystle Lee reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome (MIM#227810); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.135 COG2 Zornitza Stark Phenotypes for gene: COG2 were changed from to Congenital disorder of glycosylation, type IIq (MIM# 617395)
Congenital Disorders of Glycosylation v0.134 COG2 Zornitza Stark Publications for gene: COG2 were set to
Congenital Disorders of Glycosylation v0.133 COG2 Zornitza Stark Mode of inheritance for gene: COG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.132 COG2 Zornitza Stark Classified gene: COG2 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.132 COG2 Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.131 COG2 Ain Roesley reviewed gene: COG2: Rating: RED; Mode of pathogenicity: None; Publications: 24784932; Phenotypes: Congenital disorder of glycosylation, type IIq (MIM# 617395); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.131 B4GALNT1 Paul De Fazio changed review comment from: The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM).

5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551).

Another 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.; to: Summary: 8 families described in total.

The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM).

5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551).

Another 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.
Congenital Disorders of Glycosylation v0.131 B4GALNT1 Paul De Fazio changed review comment from: The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM).

5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551).

Another 3 families with progressive weakness and spasticity were described in PMID:24103911.; to: The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM).

5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551).

Another 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.
Congenital Disorders of Glycosylation v0.131 B4GALNT1 Paul De Fazio reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24103911; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM #609195); Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.3450 DACT1 Natalie Tan gene: DACT1 was added
gene: DACT1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACT1 were set to PMID: 28054444; 22610794; 19701191
Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2 (OMIM #617466)
Review for gene: DACT1 was set to RED
Added comment: Webb et al. (2017) reported 6 affected members of a 3-generation family with ?Townes-Brocks syndrome-2, identified heterozygosity for a nonsense mutation in the DACT1 gene that segregated with disease. Clinical features include imperforate anus, rectovaginal fistula, crossed fused renal ectopia, vesicoureteral reflux, unilateral microtia, overfolded helices and cupped ears. One family member (proband's mother) with scoliosis and spina bifida occulta. Neural tube defects reported in a study of human fetuses (PMID: 22610794) and a mouse model (PMID: 19701191). Listed in Decipher v10.0 for an individual with abnormalities of (i) head or neck (ii) nervous system (iii) skeletal system. Unlike the gene SALL1 that causes Townes-Brocks syndrome 1, there is no information specifically relating to DACT1 with radial dysplasia, as these were not observed in the family with ?Townes-Brocks syndrome 2 (PMID: 28054444).
Sources: NHS GMS
Lysosomal Storage Disorder v0.10 CTSK Zornitza Stark Marked gene: CTSK as ready
Lysosomal Storage Disorder v0.10 CTSK Zornitza Stark Gene: ctsk has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.10 CTSK Zornitza Stark Classified gene: CTSK as Amber List (moderate evidence)
Lysosomal Storage Disorder v0.10 CTSK Zornitza Stark Gene: ctsk has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.9 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Lysosomal Storage Disorder v0.9 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.9 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib (MIM#232220); Glycogen storage disease Ic (MIM#232240)
Lysosomal Storage Disorder v0.8 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to
Lysosomal Storage Disorder v0.7 SLC37A4 Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3450 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Mendeliome v0.3450 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.131 GORAB Seb Lunke Marked gene: GORAB as ready
Congenital Disorders of Glycosylation v0.131 GORAB Seb Lunke Gene: gorab has been classified as Green List (High Evidence).
Mendeliome v0.3450 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541
Congenital Disorders of Glycosylation v0.131 GORAB Seb Lunke Classified gene: GORAB as Green List (high evidence)
Congenital Disorders of Glycosylation v0.131 GORAB Seb Lunke Gene: gorab has been classified as Green List (High Evidence).
Mendeliome v0.3449 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Mendeliome v0.3448 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3447 POGLUT1 Zornitza Stark Marked gene: POGLUT1 as ready
Mendeliome v0.3447 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Green List (High Evidence).
Mendeliome v0.3447 POGLUT1 Zornitza Stark Phenotypes for gene: POGLUT1 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)
Mendeliome v0.3446 POGLUT1 Zornitza Stark Publications for gene: POGLUT1 were set to
Mendeliome v0.3445 POGLUT1 Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.6 SUMF1 Seb Lunke Marked gene: SUMF1 as ready
Lysosomal Storage Disorder v0.6 SUMF1 Seb Lunke Gene: sumf1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.53 CTSF Zornitza Stark Classified gene: CTSF as Green List (high evidence)
Early-onset Dementia v0.53 CTSF Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence).
Early-onset Dementia v0.53 CTSF Zornitza Stark Marked gene: CTSF as ready
Early-onset Dementia v0.53 CTSF Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.6 SUMF1 Seb Lunke Classified gene: SUMF1 as Green List (high evidence)
Lysosomal Storage Disorder v0.6 SUMF1 Seb Lunke Gene: sumf1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.53 CTSF Zornitza Stark Classified gene: CTSF as Green List (high evidence)
Early-onset Dementia v0.53 CTSF Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.130 GORAB Naomi Baker gene: GORAB was added
gene: GORAB was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GORAB were set to PMID: 18348262; 28807865; 30631079.
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070
Penetrance for gene: GORAB were set to Complete
Review for gene: GORAB was set to GREEN
Added comment: Many individuals reported in consanguineous families with Geroderma osteodysplasticum. Patients often have normal isoelectric focusing of serum transferrin. Recent publication demonstrated that loss of GORAB causes impairment of COPI-mediated retrieval of trans-Golgi
enzymes, resulting in a deficit in glycosylation of secretory cargo proteins, thus supporting the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica (PMID: 30631079).
Sources: Literature
Radial Ray Abnormalities v0.14 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Radial Ray Abnormalities v0.14 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.14 DACT1 Zornitza Stark Classified gene: DACT1 as Red List (low evidence)
Radial Ray Abnormalities v0.14 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v0.13 ESCO2 Seb Lunke Marked gene: ESCO2 as ready
Radial Ray Abnormalities v0.13 ESCO2 Seb Lunke Gene: esco2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.13 ESCO2 Seb Lunke Publications for gene: ESCO2 were set to PMID: 19574259; 16380922
Mendeliome v0.3444 G6PC3 Belinda Chong reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21385794; Phenotypes: Dursun syndrome 612541, Neutropenia, severe congenital 4, autosomal recessive 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Radial Ray Abnormalities v0.12 ESCO2 Seb Lunke Classified gene: ESCO2 as Green List (high evidence)
Radial Ray Abnormalities v0.12 ESCO2 Seb Lunke Gene: esco2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.5 SLC37A4 Crystle Lee reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28224773, 31508908, 32005221; Phenotypes: Glycogen storage disease Ib (MIM#232220), Glycogen storage disease Ic (MIM#232240); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.130 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Congenital Disorders of Glycosylation v0.130 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.130 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541
Radial Ray Abnormalities v0.11 ESCO2 Natalie Tan changed review comment from: Sources: NHS GMS; to: Sources: NHS GMS

Multiple unrelated individuals with biallelic variants in association with Roberts syndrome/SC phocomelia spectrum.
Lysosomal Storage Disorder v0.5 CTSK Elena Savva gene: CTSK was added
gene: CTSK was added to Storage Disorder. Sources: Expert list
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to PMID: 32667742; 25725806; 25304337
Phenotypes for gene: CTSK were set to Pycnodysostosis 265800
Review for gene: CTSK was set to AMBER
Added comment: OMIN: Cathepsin K a member of the papain family of cysteine proteinases, plays an important role in osteoclast function

PMID: 32667742 - analysis of cells affected by granular corneal dystrophy shows reduced CTSK protein and lysosomal defects.

PMID: 25725806: 1 family with pycnodysostosis. Protein described as a lysosomal cysteine protease

PMID: 25304337 - 1 patient with pycnodysostosis, described as a lysosomal storage disorder

Summary: disease is described as a lysosomal disorder but no cell studies on lysosome function or protein studies found.
Sources: Expert list
Congenital Disorders of Glycosylation v0.129 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Mendeliome v0.3444 POGLUT1 Ain Roesley reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27807076, 24387993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.128 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.127 POMK Seb Lunke Marked gene: POMK as ready
Congenital Disorders of Glycosylation v0.127 POMK Seb Lunke Gene: pomk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.127 POMK Seb Lunke Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.126 POGLUT1 Zornitza Stark Marked gene: POGLUT1 as ready
Congenital Disorders of Glycosylation v0.126 POGLUT1 Zornitza Stark Added comment: Comment when marking as ready: Limited evidence for bi-allelic disease or for CDG association.
Congenital Disorders of Glycosylation v0.126 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.126 POGLUT1 Zornitza Stark Phenotypes for gene: POGLUT1 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)
Congenital Disorders of Glycosylation v0.125 POGLUT1 Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.124 POGLUT1 Zornitza Stark Publications for gene: POGLUT1 were set to
Congenital Disorders of Glycosylation v0.123 POGLUT1 Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v0.122 EOGT Seb Lunke Marked gene: EOGT as ready
Congenital Disorders of Glycosylation v0.122 EOGT Seb Lunke Gene: eogt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.122 EOGT Seb Lunke Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects to Adams-Oliver syndrome 4 (MIM #615297); scalp aplasia cutis congenita; transverse terminal limb defects
Congenital Disorders of Glycosylation v0.121 POGLUT1 Zornitza Stark Classified gene: POGLUT1 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.121 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Red List (Low Evidence).
Mendeliome v0.3444 SEC23A Paul De Fazio reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.120 POGLUT1 Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.119 POGLUT1 Zornitza Stark Classified gene: POGLUT1 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.119 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v0.11 ESCO2 Natalie Tan gene: ESCO2 was added
gene: ESCO2 was added to Radial Ray Abnormalities. Sources: NHS GMS
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESCO2 were set to PMID: 19574259; 16380922
Phenotypes for gene: ESCO2 were set to Roberts syndrome 268300; SC phocomelia syndrome 269000
Review for gene: ESCO2 was set to GREEN
Added comment: Sources: NHS GMS
Congenital Disorders of Glycosylation v0.118 EOGT Seb Lunke Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects
Mackenzie's Mission_Reproductive Carrier Screening v0.7 SEC23A Zornitza Stark reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.117 EOGT Seb Lunke Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.116 SEC23A Zornitza Stark Marked gene: SEC23A as ready
Congenital Disorders of Glycosylation v0.116 SEC23A Zornitza Stark Gene: sec23a has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.116 SEC23A Zornitza Stark Phenotypes for gene: SEC23A were changed from to Craniolenticulosutural dysplasia (MIM# 607812)
Congenital Disorders of Glycosylation v0.115 SEC23A Zornitza Stark Publications for gene: SEC23A were set to
Congenital Disorders of Glycosylation v0.114 SEC23A Zornitza Stark Mode of inheritance for gene: SEC23A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.113 SEC23A Zornitza Stark Classified gene: SEC23A as Red List (low evidence)
Congenital Disorders of Glycosylation v0.113 SEC23A Zornitza Stark Gene: sec23a has been classified as Red List (Low Evidence).
Mendeliome v0.3444 POFUT1 Ain Roesley reviewed gene: POFUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23684010, 29452367, 25157627; Phenotypes: Dowling-Degos disease 2 (MIM# 615327); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital Disorders of Glycosylation v0.112 POFUT1 Seb Lunke Marked gene: POFUT1 as ready
Congenital Disorders of Glycosylation v0.112 POFUT1 Seb Lunke Gene: pofut1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.112 POFUT1 Seb Lunke Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital Disorders of Glycosylation v0.111 POFUT1 Seb Lunke Classified gene: POFUT1 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.111 POFUT1 Seb Lunke Gene: pofut1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.110 SLC26A2 Zornitza Stark Marked gene: SLC26A2 as ready
Congenital Disorders of Glycosylation v0.110 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.110 SLC26A2 Zornitza Stark Phenotypes for gene: SLC26A2 were changed from to Skeletal dysplasia (various)
Congenital Disorders of Glycosylation v0.109 SLC26A2 Zornitza Stark Publications for gene: SLC26A2 were set to
Congenital Disorders of Glycosylation v0.108 SLC26A2 Zornitza Stark Mode of inheritance for gene: SLC26A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.107 SLC26A2 Zornitza Stark Classified gene: SLC26A2 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.107 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.106 MAGT1 Seb Lunke Marked gene: MAGT1 as ready
Congenital Disorders of Glycosylation v0.106 MAGT1 Seb Lunke Gene: magt1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.5 SUMF1 Crystle Lee gene: SUMF1 was added
gene: SUMF1 was added to Storage Disorder. Sources: Expert Review
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 17360554; 25885655; 28566233
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency (MIM#272200)
Review for gene: SUMF1 was set to GREEN
Added comment: >5 MSD patients reported. This condition is caused by defective activity of all sulfatases, most of them with lysosomal localization.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.106 MAGT1 Seb Lunke Publications for gene: MAGT1 were set to PMID: 31036665
Congenital Disorders of Glycosylation v0.105 MAGT1 Seb Lunke Classified gene: MAGT1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.105 MAGT1 Seb Lunke Gene: magt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.104 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Congenital Disorders of Glycosylation v0.104 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.104 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896)
Radial Ray Abnormalities v0.11 DACT1 Natalie Tan gene: DACT1 was added
gene: DACT1 was added to Radial Ray Abnormalities. Sources: NHS GMS
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACT1 were set to PMID: 28054444; 22610794; 19701191
Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2 (OMIM #617466)
Review for gene: DACT1 was set to RED
Added comment: Webb et al. (2017) reported 6 affected members of a 3-generation family with ?Townes-Brocks syndrome-2, identified heterozygosity for a nonsense mutation in the DACT1 gene that segregated with disease. Clinical features include imperforate anus, rectovaginal fistula, crossed fused renal ectopia, vesicoureteral reflux, unilateral microtia, overfolded helices and cupped ears. One family member (proband's mother) with scoliosis and spina bifida occulta. Neural tube defects reported in a study of human fetuses (PMID: 22610794) and a mouse model (PMID: 19701191). Listed in Decipher v10.0 for an individual with abnormalities of (i) head or neck (ii) nervous system (iii) skeletal system. Unlike the gene SALL1 that causes Townes-Brocks syndrome 1, there is no information specifically relating to DACT1 with radial dysplasia, as these were not observed in the family with ?Townes-Brocks syndrome 2 (PMID: 28054444).
Sources: NHS GMS
Congenital Disorders of Glycosylation v0.103 SLC35A2 Zornitza Stark Publications for gene: SLC35A2 were set to
Congenital Disorders of Glycosylation v0.102 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 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 Disorders of Glycosylation v0.101 GMPPA Seb Lunke Marked gene: GMPPA as ready
Congenital Disorders of Glycosylation v0.101 GMPPA Seb Lunke Gene: gmppa has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.101 GMPPA Seb Lunke Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.100 DSE Zornitza Stark Marked gene: DSE as ready
Congenital Disorders of Glycosylation v0.100 DSE Zornitza Stark Added comment: Comment when marking as ready: Link to CDGs unclear.
Congenital Disorders of Glycosylation v0.100 DSE Zornitza Stark Gene: dse has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.100 DSE Zornitza Stark Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)
Congenital Disorders of Glycosylation v0.99 DSE Zornitza Stark Publications for gene: DSE were set to
Congenital Disorders of Glycosylation v0.98 DSE Zornitza Stark Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.97 DSE Zornitza Stark Classified gene: DSE as Red List (low evidence)
Congenital Disorders of Glycosylation v0.97 DSE Zornitza Stark Gene: dse has been classified as Red List (Low Evidence).
Mendeliome v0.3444 ARSG Zornitza Stark Marked gene: ARSG as ready
Mendeliome v0.3444 ARSG Zornitza Stark Added comment: Comment when marking as ready: Additional family reported with a different variant, upgrade to Amber.
Mendeliome v0.3444 ARSG Zornitza Stark Gene: arsg has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.52 CTSF Elena Savva gene: CTSF was added
gene: CTSF was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSF were set to PMID: 28749476; 27668283; 27524508
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362
Review for gene: CTSF was set to GREEN
Added comment: OMIM: Cathepsin is a member of the papain family of cysteine proteases. These enzymes represent a major component of the lysosomal proteolytic system.

PMID: 28749476 - 1 chet patient (missense, CNV) with FTD, onset at 37 years old.

PMID: 27668283 - 2 families with adult-onset neuronal ceroid lipofuscinosis and FTD. Onset in 20s-30s. Light and electron microscopy shows swollen neuronal perikarya and intraneuronal storage of polymorphic lipofuscin-like inclusions

PMID: 27524508 - 1 hom family (PTC) with early-onset Alzheimer disease
Sources: Expert list
Mendeliome v0.3444 ARSG Zornitza Stark Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023
Mendeliome v0.3443 ARSG Zornitza Stark Classified gene: ARSG as Amber List (moderate evidence)
Mendeliome v0.3443 ARSG Zornitza Stark Gene: arsg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3442 ARSG Zornitza Stark Tag founder tag was added to gene: ARSG.
Lysosomal Storage Disorder v0.5 VPS33A Crystle Lee reviewed gene: VPS33A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28013294, 27547915; Phenotypes: Mucopolysaccharidosis-plus syndrome (MIM#617303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.96 G6PC3 Belinda Chong reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21385794; Phenotypes: Dursun syndrome 612541, Neutropenia, severe congenital 4, autosomal recessive 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.5 CTNS Elena Savva gene: CTNS was added
gene: CTNS was added to Storage Disorder. Sources: Expert list
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to PMID: 32564281
Phenotypes for gene: CTNS were set to Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800; Cystinosis, ocular nonnephropathic 219750
Review for gene: CTNS was set to GREEN
Added comment: OMIM: CTNS encodes an integral membrane protein, that has features of a lysosomal membrane protein.

PMID: 32564281 - Reports many patients with biallelic variants and nephropathic cystinosis.
Protein transports free cystine from lysosomes to cytoplasm, free cystine accumulates in lysosomes and forms cystine crystals that lead to tissue and organ damage.
Sources: Expert list
Photosensitivity Syndromes v0.27 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital Disorders of Glycosylation v0.96 POMK Paul De Fazio reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23519211, 24556084, 24925318; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.96 POGLUT1 Ain Roesley reviewed gene: POGLUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27807076, 24387993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696); Mode of inheritance: Other
Photosensitivity Syndromes v0.26 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Photosensitivity Syndromes v0.26 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.26 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from to Trichothiodystrophy 1, photosensitive, MIM#601675
Photosensitivity Syndromes v0.25 ERCC2 Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.24 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 1, photosensitive, MIM#601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.24 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Photosensitivity Syndromes v0.24 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.24 GTF2H5 Zornitza Stark Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive, MIM# 616395
Photosensitivity Syndromes v0.23 GTF2H5 Zornitza Stark Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.22 GTF2H5 Zornitza Stark reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.22 POLH Zornitza Stark Marked gene: POLH as ready
Photosensitivity Syndromes v0.22 POLH Zornitza Stark Gene: polh has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.22 POLH Zornitza Stark Phenotypes for gene: POLH were changed from to Xeroderma pigmentosum, variant type, MIM# 278750
Photosensitivity Syndromes v0.21 POLH Zornitza Stark Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.20 POLH Zornitza Stark reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.20 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Photosensitivity Syndromes v0.20 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.20 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM# 270400
Photosensitivity Syndromes v0.19 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.18 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM# 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.18 DDB2 Zornitza Stark Marked gene: DDB2 as ready
Photosensitivity Syndromes v0.18 DDB2 Zornitza Stark Gene: ddb2 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.18 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Photosensitivity Syndromes v0.17 DDB2 Zornitza Stark Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.16 DDB2 Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.16 BLM Zornitza Stark Marked gene: BLM as ready
Photosensitivity Syndromes v0.16 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.16 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900
Photosensitivity Syndromes v0.15 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.14 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3442 ARSG Elena Savva reviewed gene: ARSG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29300381, 20679209, 25452429, 26975023, 32455177; Phenotypes: Usher syndrome, type IV, MIM# 618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.14 ADAR Zornitza Stark Marked gene: ADAR as ready
Photosensitivity Syndromes v0.14 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Photosensitivity Syndromes v0.14 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from to Dyschromatosis symmetrica hereditaria , MIM#127400
Photosensitivity Syndromes v0.13 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Photosensitivity Syndromes v0.12 ADAR Zornitza Stark Classified gene: ADAR as Red List (low evidence)
Photosensitivity Syndromes v0.12 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Photosensitivity Syndromes v0.11 ADAR Zornitza Stark reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyschromatosis symmetrica hereditaria , MIM#127400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Photosensitivity Syndromes v0.11 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Photosensitivity Syndromes v0.11 GATA1 Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence).
Photosensitivity Syndromes v0.11 GATA1 Zornitza Stark Classified gene: GATA1 as Amber List (moderate evidence)
Photosensitivity Syndromes v0.11 GATA1 Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence).
Photosensitivity Syndromes v0.10 FECH Zornitza Stark Marked gene: FECH as ready
Photosensitivity Syndromes v0.10 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.10 FECH Zornitza Stark Classified gene: FECH as Green List (high evidence)
Photosensitivity Syndromes v0.10 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.9 GATA1 Elena Savva gene: GATA1 was added
gene: GATA1 was added to Photosensitivity Syndromes. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to PMID: 17148589; 25251786
Phenotypes for gene: GATA1 were set to Erythropoietic porphyria
Review for gene: GATA1 was set to AMBER
Added comment: PMID: 17148589 - 1 hemizygous English/French patient with p.R216W and photosensitive bullous dermatosis

PMID: 25251786 - 1 hemizygous Turkish patient with p.R216W and photosensitive bullous dermatosis
Sources: Expert list
Congenital Disorders of Glycosylation v0.96 EOGT Dean Phelan reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23522784, 31368252, 29924900; Phenotypes: scalp aplasia cutis congenita, transverse terminal limb defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.9 FECH Elena Savva gene: FECH was added
gene: FECH was added to Photosensitivity Syndromes. Sources: Expert list
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FECH were set to PMID: 31304091; 17875872
Phenotypes for gene: FECH were set to Protoporphyria, erythropoietic, 1 177000
Review for gene: FECH was set to GREEN
Added comment: PMID: 31304091 - 1 family (3 patients) with cutaneous photosensitivity and erythropoietic protoporphyria (EPP)

PMID: 17875872 - 11 unrelated patients with Erythropoietic Protoporphyria and acute cutaneous photo-sensitivity. 10/11 were heterozygous for the common variant c.333-48T>C w/ a 2nd mutation.

c.333-48T>C is a common variant with functional studies, but has almost 4000 homozygotes in the population with 35% frequency in Latino and East Asian groups. Most recently classed as pathogenic (ClinVar).
Sources: Expert list
Photosensitivity Syndromes v0.9 PPOX Zornitza Stark Marked gene: PPOX as ready
Photosensitivity Syndromes v0.9 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.9 PPOX Zornitza Stark Classified gene: PPOX as Green List (high evidence)
Photosensitivity Syndromes v0.9 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.8 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Photosensitivity Syndromes v0.8 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.8 RECQL4 Zornitza Stark Classified gene: RECQL4 as Green List (high evidence)
Photosensitivity Syndromes v0.8 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.7 CPOX Zornitza Stark Marked gene: CPOX as ready
Photosensitivity Syndromes v0.7 CPOX Zornitza Stark Gene: cpox has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.7 CPOX Zornitza Stark Classified gene: CPOX as Green List (high evidence)
Photosensitivity Syndromes v0.7 CPOX Zornitza Stark Gene: cpox has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.6 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to Photosensitivity Syndromes. Sources: Expert list
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CPOX were set to 30828546; 28349448; 23582006; 24156084
Phenotypes for gene: CPOX were set to Coproporphyria 121300; Harderoporphyria 618892
Review for gene: CPOX was set to GREEN
Added comment: PMID: 30828546 - 1 chet patient (missense/inframe deletion) with harderoporphyria and chronic cutaneous photosensitivity.

PMID: 28349448 - 1 het (PTC) neonatal patient with coproporphyria and skin photosensitivity

PMID: 23582006 - 1 het (missense) adult patient with photosensitivity and skin fragility. Incomplete penetrance reported.

PMID: 24156084 - 1 het (PTC) adult patient with coproporphyria
Sources: Expert list
Photosensitivity Syndromes v0.5 UROD Zornitza Stark Marked gene: UROD as ready
Photosensitivity Syndromes v0.5 UROD Zornitza Stark Gene: urod has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.5 UROD Zornitza Stark Classified gene: UROD as Green List (high evidence)
Photosensitivity Syndromes v0.5 UROD Zornitza Stark Gene: urod has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.4 ALAS2 Zornitza Stark Marked gene: ALAS2 as ready
Photosensitivity Syndromes v0.4 ALAS2 Zornitza Stark Gene: alas2 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.4 ALAS2 Zornitza Stark Classified gene: ALAS2 as Green List (high evidence)
Photosensitivity Syndromes v0.4 ALAS2 Zornitza Stark Gene: alas2 has been classified as Green List (High Evidence).
Haem degradation and bilirubin metabolism defects v0.12 UROS Zornitza Stark Publications for gene: UROS were set to 8829650
Photosensitivity Syndromes v0.3 UROS Zornitza Stark Marked gene: UROS as ready
Photosensitivity Syndromes v0.3 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.3 UROS Zornitza Stark Classified gene: UROS as Green List (high evidence)
Photosensitivity Syndromes v0.3 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.96 SEC23A Paul De Fazio changed review comment from: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

Only one family has been reported (PMID:16980979) with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

The same authors later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected (PMID: 21039434). They suggest digenic inheritance but found no other variants in 3 candidate genes.

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978).

This is the only reference to CDG I can find: Two individuals from the same consanguineous family were found to have biallelic variants in SEC23A and MAN1B1 (PMID: 27148587). Patients presented with carbohydrate-deficient transferrin, tall stature, obesity, macrocephaly, and maloccluded teeth (CLSD individuals present with short stature). Parents were healthy carriers for both variants and an unaffected sibling with tall stature carried the heterozygous variant in SEC23A only. The MAN1B1 variant has been previously associated with CDG and short stature. Normal SEC23A levels were identified for all family members. Pro-COL1A1 secretion was increased in patients and siblings. The authors postulate that the SEC23A variants are contributing to the tall stature in the family due to increased pro-COL1A1 secretion, and that this is a digenic disease, but I'm not very convinced.

This gene is not green in any GEL panels. It is on the Invitae CDG panel.

I don't think there is enough evidence for a gene-disease association let alone association with CDG.; to: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

One family has been reported (PMID:16980979) with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

The same authors later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected (PMID: 21039434). They suggest digenic inheritance but found no other variants in 3 candidate genes.

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978).

This is the only reference to CDG I can find: Two individuals from the same consanguineous family were found to have biallelic variants in SEC23A and MAN1B1 (PMID: 27148587). Patients presented with carbohydrate-deficient transferrin, tall stature, obesity, macrocephaly, and maloccluded teeth (CLSD individuals present with short stature). Parents were healthy carriers for both variants and an unaffected sibling with tall stature carried the heterozygous variant in SEC23A only. The MAN1B1 variant has been previously associated with CDG and short stature. Normal SEC23A levels were identified for all family members. Pro-COL1A1 secretion was increased in patients and siblings. The authors postulate that the SEC23A variants are contributing to the tall stature in the family due to increased pro-COL1A1 secretion, and that this is a digenic disease, but I'm not very convinced.

This gene is not green in any GEL panels. It is on the Invitae CDG panel.

I don't think there is enough evidence for a gene-disease association let alone association with CDG.
Congenital Disorders of Glycosylation v0.96 SEC23A Paul De Fazio reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Photosensitivity Syndromes v0.2 PPOX Crystle Lee gene: PPOX was added
gene: PPOX was added to Photosensitivity Syndromes. Sources: Expert Review
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPOX were set to 12357337; 32247286; 23324528
Phenotypes for gene: PPOX were set to Porphyria variegata (MIM#176200)
Review for gene: PPOX was set to GREEN
Added comment: Photosensitivity is a feature of the condition.

PMID: 12357337: 7 different variants reported in a cohort of 103 Finnish patients; 40% had photosensitivity. One of the variant, I12T present in gnomad (9 hets)
Sources: Expert Review
Congenital Disorders of Glycosylation v0.96 POFUT1 Ain Roesley reviewed gene: POFUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23684010, 29452367, 25157627; Phenotypes: Dowling-Degos disease 2 (MIM# 615327); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Photosensitivity Syndromes v0.2 RECQL4 Crystle Lee gene: RECQL4 was added
gene: RECQL4 was added to Photosensitivity Syndromes. Sources: Expert Review
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 12838562; 10319867; 20503338; 18716613; 18616953
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, (MIM#268400)
Review for gene: RECQL4 was set to GREEN
Added comment: Sun sensitivity is a feature of RTS (OMIM). Congenital poikiloderma and photosensitivity is a feature of this phenotype. Biallelic variants reported in >5 RTS patients.
Sources: Expert Review
Photosensitivity Syndromes v0.2 UROD Crystle Lee gene: UROD was added
gene: UROD was added to Photosensitivity Syndromes. Sources: Expert Review
Mode of inheritance for gene: UROD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: UROD were set to 23545314; 30514647
Phenotypes for gene: UROD were set to Porphyria cutanea tarda; Porphyria, hepatoerythropoietic (MIM#176100)
Review for gene: UROD was set to GREEN
Added comment: Photosensitivity is a feature of the phenotype (OMIM). Heterozygous variants cause Porphyria Cutanea Tarda (Type 1 and 2) and biallelic variants result in hepatoerythropoietic porphyria (HEP) (hematologic and severe photosensitive cutaneous manifestations in infancy or childhood)
Sources: Expert Review
Photosensitivity Syndromes v0.2 ALAS2 Elena Savva gene: ALAS2 was added
gene: ALAS2 was added to Photosensitivity Syndromes. Sources: Expert list
Mode of inheritance for gene: ALAS2 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: ALAS2 were set to PMID: 25615817
Phenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked 300752
Mode of pathogenicity for gene: ALAS2 was set to Other
Review for gene: ALAS2 was set to GREEN
Added comment: PMID: 25615817 - 6 unrelated families (9 patients) with protoporphyria a history of photosensitivity, females had a later onset. Protoporphyria is caused by GOF variants in the C-terminal. Females show variable severity in phenotype.
Sources: Expert list
Congenital Disorders of Glycosylation v0.96 SLC26A2 Paul De Fazio changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a direct role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index
Congenital Disorders of Glycosylation v0.96 SLC26A2 Paul De Fazio changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation." (https://www.ncbi.nlm.nih.gov/books/NBK1939/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index
Congenital Disorders of Glycosylation v0.96 SLC26A2 Paul De Fazio changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation."(https://www.ncbi.nlm.nih.gov/books/NBK1939/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation." (https://www.ncbi.nlm.nih.gov/books/NBK1939/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index
Haem degradation and bilirubin metabolism defects v0.11 UROS Crystle Lee reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334762, 27512208; Phenotypes: Porphyria, congenital erythropoietic (MIM#263700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.2 UROS Crystle Lee gene: UROS was added
gene: UROS was added to Photosensitivity Syndromes. Sources: Expert Review
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROS were set to 28334762; 27512208
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic (MIM#263700)
Review for gene: UROS was set to GREEN
Added comment: >10 missense variants reported in CEP patients. Photosensitivity is a significant feature of this phenotype.

PMID: 28334762: Performed in silico and in vitro studies on 29 missense variants previously reported in patients.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.96 SLC26A2 Paul De Fazio reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 11241838; Phenotypes: Skeletal dysplasia (various); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Photosensitivity Syndromes v0.2 UVSSA Zornitza Stark Marked gene: UVSSA as ready
Photosensitivity Syndromes v0.2 UVSSA Zornitza Stark Gene: uvssa has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.96 MAGT1 Ain Roesley Deleted their comment
Congenital Disorders of Glycosylation v0.96 MAGT1 Ain Roesley edited their review of gene: MAGT1: Added comment: PMID: 31036665;
- 3 affecteds (males; 2x CDG and 1x XMEN)
- All 3 patients have an N-glycosylation defect

PMID: 31714901;
- 23 XMEN patients from 17 families
- glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation; Changed publications: 31036665, 31714901; Changed phenotypes: Congenital disorder of glycosylation, type Icc (MIM# 301031), Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Photosensitivity Syndromes v0.2 UVSSA Zornitza Stark Classified gene: UVSSA as Green List (high evidence)
Photosensitivity Syndromes v0.2 UVSSA Zornitza Stark Gene: uvssa has been classified as Green List (High Evidence).
Mendeliome v0.3442 UVSSA Crystle Lee reviewed gene: UVSSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31421932; Phenotypes: UV-sensitive syndrome 3 (MIM#614640); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.1 UVSSA Crystle Lee gene: UVSSA was added
gene: UVSSA was added to Photosensitivity Syndromes. Sources: Expert Review
Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UVSSA were set to 31421932
Phenotypes for gene: UVSSA were set to UV-sensitive syndrome 3 (MIM#614640)
Review for gene: UVSSA was set to GREEN
Added comment: At least 4 different variants have previously been reported. The condition is characterised by photosensitivity, and hyperpigmentation, freckling, and dryness of sun exposed areas

PMID: 31421932: Single nonsense variant reported in 2 Pakistani families with UV-sensitive syndrome. Also reviews previously published variants.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.96 MAGT1 Ain Roesley gene: MAGT1 was added
gene: MAGT1 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to PMID: 31036665
Phenotypes for gene: MAGT1 were set to Congenital disorder of glycosylation, type Icc (MIM# 301031); Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Penetrance for gene: MAGT1 were set to unknown
Review for gene: MAGT1 was set to GREEN
Added comment: PMID: 31036665;
- 3 affecteds (males; 2x CDG and 1x XMEN)
- All 3 patients have an N-glycosylation defect
Sources: Literature
Congenital Disorders of Glycosylation v0.96 SLC35A2 Paul De Fazio changed review comment from: Summary: gene-disease association is well-established. Phenotypes are mostly CNS related. Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854).

3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. "In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement."

4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.

PMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.; to: Summary: gene-disease association is well-established. Phenotypes are mostly CNS related (epilepsy, dev delay, etc). Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854).

3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. "In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement."

4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.

PMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.
Congenital Disorders of Glycosylation v0.96 SLC35A2 Paul De Fazio changed review comment from: 3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. "In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement."

4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.

PMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.; to: Summary: gene-disease association is well-established. Phenotypes are mostly CNS related. Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854).

3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. "In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement."

4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.

PMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.
Congenital Disorders of Glycosylation v0.96 SLC35A2 Paul De Fazio reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561849, 24115232, 27743886, 25778940, 30817854; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Congenital Disorders of Glycosylation v0.96 GMPPA Ain Roesley reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and mental retardation syndrome (MIM# 615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.96 DSE Ain Roesley reviewed gene: DSE: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23704329; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3441 FAM92A Zornitza Stark Marked gene: FAM92A as ready
Mendeliome v0.3441 FAM92A Zornitza Stark Gene: fam92a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3441 FAM92A Zornitza Stark Classified gene: FAM92A as Amber List (moderate evidence)
Mendeliome v0.3441 FAM92A Zornitza Stark Gene: fam92a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3440 FAM92A Zornitza Stark gene: FAM92A was added
gene: FAM92A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM92A were set to 30395363
Phenotypes for gene: FAM92A were set to Polydactyly, postaxial, type A9, MIM# 618219
Review for gene: FAM92A was set to AMBER
Added comment: Single family and a mouse model reported.
Sources: Expert list
Polydactyly v0.166 FAM92A Zornitza Stark Marked gene: FAM92A as ready
Polydactyly v0.166 FAM92A Zornitza Stark Gene: fam92a has been classified as Amber List (Moderate Evidence).
Polydactyly v0.166 FAM92A Zornitza Stark Classified gene: FAM92A as Amber List (moderate evidence)
Polydactyly v0.166 FAM92A Zornitza Stark Gene: fam92a has been classified as Amber List (Moderate Evidence).
Polydactyly v0.165 FAM92A Zornitza Stark gene: FAM92A was added
gene: FAM92A was added to Polydactyly. Sources: Expert list
Mode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM92A were set to 30395363
Phenotypes for gene: FAM92A were set to Polydactyly, postaxial, type A9, MIM# 618219
Review for gene: FAM92A was set to AMBER
Added comment: Single family and a mouse model reported.
Sources: Expert list
Mendeliome v0.3439 KIAA0825 Zornitza Stark Marked gene: KIAA0825 as ready
Mendeliome v0.3439 KIAA0825 Zornitza Stark Gene: kiaa0825 has been classified as Green List (High Evidence).
Mendeliome v0.3439 KIAA0825 Zornitza Stark Classified gene: KIAA0825 as Green List (high evidence)
Mendeliome v0.3439 KIAA0825 Zornitza Stark Gene: kiaa0825 has been classified as Green List (High Evidence).
Mendeliome v0.3438 KIAA0825 Zornitza Stark gene: KIAA0825 was added
gene: KIAA0825 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0825 were set to 32147526; 30982135
Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, MIM# 618498
Review for gene: KIAA0825 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Polydactyly v0.164 KIAA0825 Zornitza Stark Marked gene: KIAA0825 as ready
Polydactyly v0.164 KIAA0825 Zornitza Stark Gene: kiaa0825 has been classified as Green List (High Evidence).
Polydactyly v0.164 KIAA0825 Zornitza Stark Classified gene: KIAA0825 as Green List (high evidence)
Polydactyly v0.164 KIAA0825 Zornitza Stark Gene: kiaa0825 has been classified as Green List (High Evidence).
Polydactyly v0.163 KIAA0825 Zornitza Stark gene: KIAA0825 was added
gene: KIAA0825 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0825 were set to 32147526; 30982135
Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, MIM# 618498
Review for gene: KIAA0825 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Polydactyly v0.162 ZSWIM6 Zornitza Stark Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3437 ZNF141 Zornitza Stark Marked gene: ZNF141 as ready
Mendeliome v0.3437 ZNF141 Zornitza Stark Gene: znf141 has been classified as Red List (Low Evidence).
Mendeliome v0.3437 ZNF141 Zornitza Stark Phenotypes for gene: ZNF141 were changed from to Polydactyly, postaxial, type A6, MIM# 615226
Mendeliome v0.3436 ZNF141 Zornitza Stark Publications for gene: ZNF141 were set to
Mendeliome v0.3435 ZNF141 Zornitza Stark Mode of inheritance for gene: ZNF141 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3434 ZNF141 Zornitza Stark Classified gene: ZNF141 as Red List (low evidence)
Mendeliome v0.3434 ZNF141 Zornitza Stark Gene: znf141 has been classified as Red List (Low Evidence).
Mendeliome v0.3433 ZNF141 Zornitza Stark reviewed gene: ZNF141: Rating: RED; Mode of pathogenicity: None; Publications: 23160277; Phenotypes: Polydactyly, postaxial, type A6, MIM# 615226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.161 ZNF141 Zornitza Stark Marked gene: ZNF141 as ready
Polydactyly v0.161 ZNF141 Zornitza Stark Gene: znf141 has been classified as Red List (Low Evidence).
Polydactyly v0.161 ZNF141 Zornitza Stark Publications for gene: ZNF141 were set to
Polydactyly v0.160 ZNF141 Zornitza Stark Phenotypes for gene: ZNF141 were changed from to Polydactyly, postaxial, type A6, MIM# 615226
Polydactyly v0.159 ZNF141 Zornitza Stark Classified gene: ZNF141 as Red List (low evidence)
Polydactyly v0.159 ZNF141 Zornitza Stark Gene: znf141 has been classified as Red List (Low Evidence).
Polydactyly v0.158 ZNF141 Zornitza Stark reviewed gene: ZNF141: Rating: RED; Mode of pathogenicity: None; Publications: 23160277; Phenotypes: Polydactyly, postaxial, type A6, MIM# 615226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.158 ZNF141 Zornitza Stark Mode of inheritance for gene: ZNF141 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.157 WNT7A Zornitza Stark Mode of inheritance for gene: WNT7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.156 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.155 WDR35 Zornitza Stark Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.154 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.153 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.152 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Polydactyly v0.152 WDPCP Zornitza Stark Gene: wdpcp has been classified as Green List (High Evidence).
Polydactyly v0.152 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.151 USP9X Zornitza Stark reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Polydactyly v0.151 USP9X Zornitza Stark Marked gene: USP9X as ready
Polydactyly v0.151 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Polydactyly v0.151 USP9X Zornitza Stark Phenotypes for gene: USP9X were changed from to Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968
Polydactyly v0.150 USP9X Zornitza Stark Mode of inheritance for gene: USP9X 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)
Polydactyly v0.149 UBE3B Zornitza Stark Mode of inheritance for gene: UBE3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.148 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Polydactyly v0.148 TWIST1 Zornitza Stark Gene: twist1 has been classified as Green List (High Evidence).
Polydactyly v0.148 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from to Robinow-Sorauf syndrome, MIM# 180750
Polydactyly v0.147 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.147 TWIST1 Zornitza Stark Mode of inheritance for gene: TWIST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.146 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.145 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.144 TRAF3IP1 Zornitza Stark Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.143 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.142 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.141 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.140 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.139 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.138 TFAP2B Zornitza Stark Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.137 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.136 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.135 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.134 TCTEX1D2 Zornitza Stark Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.133 TBX5 Zornitza Stark Mode of inheritance for gene: TBX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.132 TBX3 Zornitza Stark Mode of inheritance for gene: TBX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.131 TBX22 Zornitza Stark Mode of inheritance for gene: TBX22 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)
Polydactyly v0.130 SPINT2 Zornitza Stark Mode of inheritance for gene: SPINT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.129 SMOC1 Zornitza Stark Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.128 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.127 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.126 SC5D Zornitza Stark Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.125 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.124 SALL1 Zornitza Stark Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.123 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.122 RBM10 Zornitza Stark Mode of inheritance for gene: RBM10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.121 RAB23 Zornitza Stark Mode of inheritance for gene: RAB23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.120 PROM1 Zornitza Stark Marked gene: PROM1 as ready
Polydactyly v0.120 PROM1 Zornitza Stark Gene: prom1 has been classified as Red List (Low Evidence).
Polydactyly v0.120 PROM1 Zornitza Stark Phenotypes for gene: PROM1 were changed from to Cone-rod dystrophy 12, MIM# 612657; Macular dystrophy, retinal, 2, MIM# 608051; Retinitis pigmentosa 41, MIM# 612095; Stargardt disease 4, MIM# 603786
Polydactyly v0.119 PROM1 Zornitza Stark Classified gene: PROM1 as Red List (low evidence)
Polydactyly v0.119 PROM1 Zornitza Stark Gene: prom1 has been classified as Red List (Low Evidence).
Polydactyly v0.118 PROM1 Zornitza Stark reviewed gene: PROM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 12, MIM# 612657, Macular dystrophy, retinal, 2, MIM# 608051, Retinitis pigmentosa 41, MIM# 612095, Stargardt disease 4, MIM# 603786; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.118 PROM1 Zornitza Stark Mode of inheritance for gene: PROM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.117 PORCN Zornitza Stark Mode of inheritance for gene: PORCN 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)
Polydactyly v0.116 PNPLA6 Zornitza Stark Mode of inheritance for gene: PNPLA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.115 PITX1 Zornitza Stark Mode of inheritance for gene: PITX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.114 PIK3R2 Zornitza Stark Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.113 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Polydactyly v0.113 PIK3CA Zornitza Stark Added comment: Comment when marking as ready: Germline variants also described.
Polydactyly v0.113 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Polydactyly v0.113 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501
Polydactyly v0.112 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from Unknown to Other
Polydactyly v0.111 PIK3CA Zornitza Stark Tag somatic tag was added to gene: PIK3CA.
Polydactyly v0.111 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 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)
Polydactyly v0.110 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.109 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.108 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.107 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.106 MEGF8 Zornitza Stark Mode of inheritance for gene: MEGF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.105 MBTPS2 Zornitza Stark Mode of inheritance for gene: MBTPS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polydactyly v0.104 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.103 LRP4 Zornitza Stark edited their review of gene: LRP4: Changed phenotypes: Cenani-Lenz syndactyly syndrome, MIM# 212780, Sclerosteosis 2, MIM# 614305
Polydactyly v0.103 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Polydactyly v0.103 LRP4 Zornitza Stark Gene: lrp4 has been classified as Red List (Low Evidence).
Polydactyly v0.103 LRP4 Zornitza Stark edited their review of gene: LRP4: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.103 LRP4 Zornitza Stark reviewed gene: LRP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Polydactyly v0.103 LRP4 Zornitza Stark Classified gene: LRP4 as Red List (low evidence)
Polydactyly v0.103 LRP4 Zornitza Stark Gene: lrp4 has been classified as Red List (Low Evidence).
Polydactyly v0.102 LRP4 Zornitza Stark Mode of inheritance for gene: LRP4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.101 LRP4 Zornitza Stark Phenotypes for gene: LRP4 were changed from to Cenani-Lenz syndactyly syndrome, MIM# 212780; Sclerosteosis 2, MIM# 614305
Polydactyly v0.100 LMBR1 Zornitza Stark Phenotypes for gene: LMBR1 were changed from to Polydactyly, preaxial type II, MIM# 174500
Polydactyly v0.99 LMBR1 Zornitza Stark Mode of inheritance for gene: LMBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.98 LBR Zornitza Stark Marked gene: LBR as ready
Polydactyly v0.98 LBR Zornitza Stark Gene: lbr has been classified as Green List (High Evidence).
Polydactyly v0.98 LBR Zornitza Stark Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM# 215140
Polydactyly v0.97 LBR Zornitza Stark Mode of inheritance for gene: LBR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.96 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.95 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.94 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.93 IFT80 Zornitza Stark Mode of inheritance for gene: IFT80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.92 IFT52 Zornitza Stark Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.91 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.90 IFT27 Zornitza Stark Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.89 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.88 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.87 ICK Zornitza Stark Mode of inheritance for gene: ICK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.86 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.85 HOXD13 Zornitza Stark Phenotypes for gene: HOXD13 were changed from to Synpolydactyly 1, MIM# 186000
Polydactyly v0.84 HOXD13 Zornitza Stark Mode of inheritance for gene: HOXD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.83 HOXA13 Zornitza Stark Mode of inheritance for gene: HOXA13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.82 HNRNPK Zornitza Stark Mode of inheritance for gene: HNRNPK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.81 GRIP1 Zornitza Stark Mode of inheritance for gene: GRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.80 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polydactyly v0.79 GLI3 Zornitza Stark Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.78 GLI2 Zornitza Stark Mode of inheritance for gene: GLI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.77 GDF5 Zornitza Stark Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.76 FREM2 Zornitza Stark Mode of inheritance for gene: FREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.75 FRAS1 Zornitza Stark Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.74 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.73 FGFR2 Zornitza Stark Mode of inheritance for gene: FGFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.72 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.71 FGF10 Zornitza Stark Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.70 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.69 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.68 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.67 EBP Zornitza Stark Mode of inheritance for gene: EBP 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)
Polydactyly v0.66 DYNC2LI1 Zornitza Stark Mode of inheritance for gene: DYNC2LI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.65 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.64 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.63 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.62 CKAP2L Zornitza Stark Mode of inheritance for gene: CKAP2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.61 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.60 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.59 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.58 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.57 CENPF Zornitza Stark Mode of inheritance for gene: CENPF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.56 CCND2 Zornitza Stark Mode of inheritance for gene: CCND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.55 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.54 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.53 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.52 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.51 BHLHA9 Zornitza Stark Mode of inheritance for gene: BHLHA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.50 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.49 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.48 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.47 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.46 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.45 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.44 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Polydactyly v0.44 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Polydactyly v0.44 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.43 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Polydactyly v0.43 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Polydactyly v0.43 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Polydactyly v0.42 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.41 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Polydactyly v0.41 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Polydactyly v0.41 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.40 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Polydactyly v0.40 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Polydactyly v0.40 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Polydactyly v0.39 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.38 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Polydactyly v0.38 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Polydactyly v0.38 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629
Polydactyly v0.37 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.367 Zornitza Stark Panel name changed from Deafness_ComplexAndIsolated to Deafness_IsolatedAndComplex
Deafness_IsolatedAndComplex v0.366 Zornitza Stark Panel name changed from Deafness to Deafness_ComplexAndIsolated
Polydactyly v0.36 ALX3 Anand Vasudevan reviewed gene: ALX3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 ALMS1 Anand Vasudevan reviewed gene: ALMS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 PDE6D Anand Vasudevan reviewed gene: PDE6D: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CD96 Anand Vasudevan reviewed gene: CD96: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 ZSWIM6 Anand Vasudevan reviewed gene: ZSWIM6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 ZNF141 Anand Vasudevan reviewed gene: ZNF141: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 WNT7A Anand Vasudevan reviewed gene: WNT7A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 WDR60 Anand Vasudevan reviewed gene: WDR60: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 WDR35 Anand Vasudevan reviewed gene: WDR35: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 WDR34 Anand Vasudevan reviewed gene: WDR34: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 WDR19 Anand Vasudevan reviewed gene: WDR19: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 WDPCP Anand Vasudevan reviewed gene: WDPCP: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 USP9X Anand Vasudevan reviewed gene: USP9X: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Polydactyly v0.36 UBE3B Anand Vasudevan reviewed gene: UBE3B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TWIST1 Anand Vasudevan reviewed gene: TWIST1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 TTC8 Anand Vasudevan reviewed gene: TTC8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TTC21B Anand Vasudevan reviewed gene: TTC21B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 TRAF3IP1 Anand Vasudevan reviewed gene: TRAF3IP1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TMEM67 Anand Vasudevan reviewed gene: TMEM67: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TMEM237 Anand Vasudevan reviewed gene: TMEM237: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TMEM231 Anand Vasudevan reviewed gene: TMEM231: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TMEM216 Anand Vasudevan reviewed gene: TMEM216: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TMEM138 Anand Vasudevan reviewed gene: TMEM138: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TFAP2B Anand Vasudevan reviewed gene: TFAP2B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 TFAP2A Anand Vasudevan reviewed gene: TFAP2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 TCTN3 Anand Vasudevan reviewed gene: TCTN3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TCTN2 Anand Vasudevan reviewed gene: TCTN2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TCTEX1D2 Anand Vasudevan reviewed gene: TCTEX1D2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 TBX5 Anand Vasudevan reviewed gene: TBX5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 TBX3 Anand Vasudevan reviewed gene: TBX3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 TBX22 Anand Vasudevan reviewed gene: TBX22: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Polydactyly v0.36 SPINT2 Anand Vasudevan reviewed gene: SPINT2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 SMOC1 Anand Vasudevan reviewed gene: SMOC1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 SMO Anand Vasudevan edited their review of gene: SMO: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 SMO Anand Vasudevan reviewed gene: SMO: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 SHH Anand Vasudevan reviewed gene: SHH: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 SDCCAG8 Anand Vasudevan reviewed gene: SDCCAG8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 SC5D Anand Vasudevan reviewed gene: SC5D: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 SALL4 Anand Vasudevan reviewed gene: SALL4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 SALL1 Anand Vasudevan reviewed gene: SALL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 RPGRIP1L Anand Vasudevan reviewed gene: RPGRIP1L: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 RBM10 Anand Vasudevan reviewed gene: RBM10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 RAB23 Anand Vasudevan reviewed gene: RAB23: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 PROM1 Anand Vasudevan reviewed gene: PROM1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 PORCN Anand Vasudevan reviewed gene: PORCN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Polydactyly v0.36 PNPLA6 Anand Vasudevan reviewed gene: PNPLA6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 PITX1 Anand Vasudevan reviewed gene: PITX1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 PIK3R2 Anand Vasudevan reviewed gene: PIK3R2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 PIK3CA Anand Vasudevan reviewed gene: PIK3CA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other
Polydactyly v0.36 OFD1 Anand Vasudevan reviewed gene: OFD1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Polydactyly v0.36 NPHP3 Anand Vasudevan reviewed gene: NPHP3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 NEK1 Anand Vasudevan reviewed gene: NEK1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 MKS1 Anand Vasudevan reviewed gene: MKS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 MKKS Anand Vasudevan reviewed gene: MKKS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 MEGF8 Anand Vasudevan reviewed gene: MEGF8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 MBTPS2 Anand Vasudevan reviewed gene: MBTPS2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polydactyly v0.36 LZTFL1 Anand Vasudevan reviewed gene: LZTFL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 LRP4 Anand Vasudevan reviewed gene: LRP4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 LMBR1 Anand Vasudevan reviewed gene: LMBR1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 LBR Anand Vasudevan reviewed gene: LBR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 KIF7 Anand Vasudevan reviewed gene: KIF7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 KIAA0586 Anand Vasudevan reviewed gene: KIAA0586: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 IQCE Anand Vasudevan reviewed gene: IQCE: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 INPP5E Anand Vasudevan reviewed gene: INPP5E: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 IFT80 Anand Vasudevan reviewed gene: IFT80: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 IFT52 Anand Vasudevan reviewed gene: IFT52: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 IFT43 Anand Vasudevan reviewed gene: IFT43: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 IFT27 Anand Vasudevan reviewed gene: IFT27: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 IFT172 Anand Vasudevan reviewed gene: IFT172: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 IFT140 Anand Vasudevan reviewed gene: IFT140: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 ICK Anand Vasudevan reviewed gene: ICK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 HYLS1 Anand Vasudevan reviewed gene: HYLS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 HOXA13 Anand Vasudevan reviewed gene: HOXA13: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 HNRNPK Anand Vasudevan reviewed gene: HNRNPK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 GRIP1 Anand Vasudevan reviewed gene: GRIP1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 GPC3 Anand Vasudevan reviewed gene: GPC3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polydactyly v0.36 GLI3 Anand Vasudevan reviewed gene: GLI3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 GLI2 Anand Vasudevan reviewed gene: GLI2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 GDF5 Anand Vasudevan reviewed gene: GDF5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 FREM2 Anand Vasudevan reviewed gene: FREM2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 FRAS1 Anand Vasudevan reviewed gene: FRAS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 FGFR3 Anand Vasudevan reviewed gene: FGFR3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 FGFR2 Anand Vasudevan reviewed gene: FGFR2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 FGFR1 Anand Vasudevan reviewed gene: FGFR1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 FGF10 Anand Vasudevan reviewed gene: FGF10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 EVC2 Anand Vasudevan reviewed gene: EVC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 EVC Anand Vasudevan reviewed gene: EVC: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.36 EBP Anand Vasudevan reviewed gene: EBP: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Polydactyly v0.36 DYNC2LI1 Anand Vasudevan reviewed gene: DYNC2LI1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 DYNC2H1 Anand Vasudevan reviewed gene: DYNC2H1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 DDX59 Anand Vasudevan reviewed gene: DDX59: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CSPP1 Anand Vasudevan reviewed gene: CSPP1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CKAP2L Anand Vasudevan reviewed gene: CKAP2L: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CEP41 Anand Vasudevan reviewed gene: CEP41: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CEP290 Anand Vasudevan reviewed gene: CEP290: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CEP164 Anand Vasudevan reviewed gene: CEP164: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CEP120 Anand Vasudevan reviewed gene: CEP120: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CENPF Anand Vasudevan reviewed gene: CENPF: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CCND2 Anand Vasudevan reviewed gene: CCND2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 CC2D2A Anand Vasudevan reviewed gene: CC2D2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 C5orf42 Anand Vasudevan reviewed gene: C5orf42: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 C2CD3 Anand Vasudevan reviewed gene: C2CD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 BMP4 Anand Vasudevan reviewed gene: BMP4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 BHLHA9 Anand Vasudevan reviewed gene: BHLHA9: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 BBS9 Anand Vasudevan reviewed gene: BBS9: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 BBS7 Anand Vasudevan reviewed gene: BBS7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 BBS5 Anand Vasudevan reviewed gene: BBS5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 BBS4 Anand Vasudevan reviewed gene: BBS4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 BBS2 Anand Vasudevan reviewed gene: BBS2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 BBS12 Anand Vasudevan reviewed gene: BBS12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 BBS10 Anand Vasudevan reviewed gene: BBS10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 BBS1 Anand Vasudevan reviewed gene: BBS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 B9D2 Anand Vasudevan reviewed gene: B9D2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 ARL6 Anand Vasudevan reviewed gene: ARL6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 AKT3 Anand Vasudevan reviewed gene: AKT3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.36 AHI1 Anand Vasudevan reviewed gene: AHI1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.30 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Paroxysmal Dyskinesia v0.30 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.30 CLCN1 Zornitza Stark Phenotypes for gene: CLCN1 were changed from to Myotonia congenita, dominant, MIM# 160800; Myotonia congenita, recessive, MIM# 255700
Paroxysmal Dyskinesia v0.29 CLCN1 Sue White Classified gene: CLCN1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.29 CLCN1 Sue White Gene: clcn1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.28 CLCN1 Sue White gene: CLCN1 was added
gene: CLCN1 was added to Paroxysmal Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added comment: Mono- and biallelic variants cause mytonia congenita, which is an important differential diagnosis to other movement disorder presentations
Sources: Expert Review
Genetic Epilepsy v0.759 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Genetic Epilepsy v0.759 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.759 NSDHL Zornitza Stark Phenotypes for gene: NSDHL were changed from to CK syndrome (MIM#300831)
Genetic Epilepsy v0.758 NSDHL Zornitza Stark Publications for gene: NSDHL were set to
Genetic Epilepsy v0.757 NSDHL Zornitza Stark Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2779 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Intellectual disability syndromic and non-syndromic v0.2779 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2779 NSDHL Zornitza Stark Phenotypes for gene: NSDHL were changed from to CK syndrome (MIM#300831)
Intellectual disability syndromic and non-syndromic v0.2778 NSDHL Zornitza Stark Publications for gene: NSDHL were set to
Intellectual disability syndromic and non-syndromic v0.2777 NSDHL Zornitza Stark Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3433 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Mendeliome v0.3433 NR0B1 Zornitza Stark Added comment: Comment when marking as ready: Note 46XY reversal disorder is only associated with duplications.
Mendeliome v0.3433 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Mendeliome v0.3433 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from Adrenal hypoplasia, congenital (MIM# 300200) to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Mendeliome v0.3432 NR0B1 Zornitza Stark Classified gene: NR0B1 as Green List (high evidence)
Mendeliome v0.3432 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Mendeliome v0.3431 NR0B1 Zornitza Stark Classified gene: NR0B1 as Amber List (moderate evidence)
Mendeliome v0.3431 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3430 NR0B1 Zornitza Stark Tag SV/CNV tag was added to gene: NR0B1.
Mendeliome v0.3430 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Mendeliome v0.3430 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Mendeliome v0.3430 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from to Adrenal hypoplasia, congenital (MIM# 300200)
Mendeliome v0.3429 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to
Mendeliome v0.3428 NR0B1 Zornitza Stark Mode of inheritance for gene: NR0B1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3427 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Mendeliome v0.3427 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Mendeliome v0.3427 NSDHL Zornitza Stark Phenotypes for gene: NSDHL were changed from to CHILD syndrome (MMIM#308050)
Mendeliome v0.3426 NSDHL Zornitza Stark Publications for gene: NSDHL were set to
Mendeliome v0.3425 NSDHL Zornitza Stark Mode of inheritance for gene: NSDHL 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)
Cholestasis v0.30 TFR2 Zornitza Stark Marked gene: TFR2 as ready
Cholestasis v0.30 TFR2 Zornitza Stark Gene: tfr2 has been classified as Green List (High Evidence).
Cholestasis v0.30 TFR2 Zornitza Stark Phenotypes for gene: TFR2 were changed from to Haemochromatosis, type 3 (MIM#604250)
Cholestasis v0.29 TFR2 Zornitza Stark Publications for gene: TFR2 were set to
Cholestasis v0.28 TFR2 Zornitza Stark Mode of inheritance for gene: TFR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.27 TFR2 Zornitza Stark reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24847265, 29743178; Phenotypes: Haemochromatosis, type 3 (MIM#604250); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3424 TFR2 Zornitza Stark Mode of inheritance for gene: TFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3423 TFR2 Zornitza Stark Marked gene: TFR2 as ready
Mendeliome v0.3423 TFR2 Zornitza Stark Gene: tfr2 has been classified as Green List (High Evidence).
Mendeliome v0.3423 TFR2 Zornitza Stark Phenotypes for gene: TFR2 were changed from Hemochromatosis, type 3 (MIM#604250) to Haemochromatosis, type 3 (MIM#604250)
Mendeliome v0.3422 TFR2 Zornitza Stark Phenotypes for gene: TFR2 were changed from to Hemochromatosis, type 3 (MIM#604250)
Mendeliome v0.3421 TFR2 Zornitza Stark Publications for gene: TFR2 were set to
Mendeliome v0.3420 TFR2 Zornitza Stark Mode of inheritance for gene: TFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Peroxisomal Disorders v0.15 EBP Zornitza Stark Marked gene: EBP as ready
Peroxisomal Disorders v0.15 EBP Zornitza Stark Added comment: Comment when marking as ready: Enzyme is located primarily in ER, phenotypic overlap with peroxisomal disorders.
Peroxisomal Disorders v0.15 EBP Zornitza Stark Gene: ebp has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.15 EBP Zornitza Stark Classified gene: EBP as Amber List (moderate evidence)
Peroxisomal Disorders v0.15 EBP Zornitza Stark Gene: ebp has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.36 EBP Zornitza Stark Marked gene: EBP as ready
Skeletal dysplasia v0.36 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Skeletal dysplasia v0.36 EBP Zornitza Stark Publications for gene: EBP were set to
Peroxisomal Disorders v0.14 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Peroxisomal Disorders v0.14 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.14 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Peroxisomal Disorders v0.14 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.13 ARSE Zornitza Stark Marked gene: ARSE as ready
Peroxisomal Disorders v0.13 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.13 ARSE Zornitza Stark Classified gene: ARSE as Green List (high evidence)
Peroxisomal Disorders v0.13 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.12 Zornitza Stark removed gene:AGK from the panel
Peroxisomal Disorders v0.11 ACBD5 Zornitza Stark Marked gene: ACBD5 as ready
Peroxisomal Disorders v0.11 ACBD5 Zornitza Stark Gene: acbd5 has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.11 ACBD5 Zornitza Stark Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy (MIM#618863)
Peroxisomal Disorders v0.10 ACBD5 Zornitza Stark Publications for gene: ACBD5 were set to
Peroxisomal Disorders v0.9 ACBD5 Zornitza Stark Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3419 ABCD3 Zornitza Stark Marked gene: ABCD3 as ready
Mendeliome v0.3419 ABCD3 Zornitza Stark Gene: abcd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3419 ABCD3 Zornitza Stark Phenotypes for gene: ABCD3 were changed from to Bile acid synthesis defect, congenital, 5 (MIM#616278)
Mendeliome v0.3418 ABCD3 Zornitza Stark Publications for gene: ABCD3 were set to
Mendeliome v0.3417 ABCD3 Zornitza Stark Mode of inheritance for gene: ABCD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3416 ABCD3 Zornitza Stark Classified gene: ABCD3 as Amber List (moderate evidence)
Mendeliome v0.3416 ABCD3 Zornitza Stark Gene: abcd3 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.8 ABCD3 Zornitza Stark Marked gene: ABCD3 as ready
Peroxisomal Disorders v0.8 ABCD3 Zornitza Stark Gene: abcd3 has been classified as Red List (Low Evidence).
Peroxisomal Disorders v0.8 ABCD3 Zornitza Stark Phenotypes for gene: ABCD3 were changed from to Bile acid synthesis defect, congenital, 5 (MIM#616278)
Peroxisomal Disorders v0.7 ABCD3 Zornitza Stark Publications for gene: ABCD3 were set to
Peroxisomal Disorders v0.6 ABCD3 Zornitza Stark Mode of inheritance for gene: ABCD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.5 ABCD3 Zornitza Stark Classified gene: ABCD3 as Red List (low evidence)
Peroxisomal Disorders v0.5 ABCD3 Zornitza Stark Gene: abcd3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.3 TBC1D32 Zornitza Stark gene: TBC1D32 was added
gene: TBC1D32 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 32060556
Phenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism
Review for gene: TBC1D32 was set to AMBER
Added comment: Two families reported with syndromic hypopituitarism and bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.3415 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566
Mendeliome v0.3414 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Amber List (moderate evidence)
Mendeliome v0.3414 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3413 TBC1D32 Zornitza Stark changed review comment from: Three families reported, but phenotypes are broad, some suggestive of ciliopathy.; to: Three families reported now, but phenotypes are broad, some suggestive of ciliopathy.
Mendeliome v0.3413 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Added comment: Three families reported, but phenotypes are broad, some suggestive of ciliopathy.; Changed rating: AMBER; Changed publications: 24285566, 32573025, 32060556; Changed phenotypes: Orofaciodigital syndrome type IX, syndromic hypopituitarism
Ciliopathies v0.195 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566
Ciliopathies v0.194 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Amber List (moderate evidence)
Ciliopathies v0.194 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.756 NSDHL Crystle Lee reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129721, 15689440, 25900314; Phenotypes: CK syndrome (MIM#300831); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2776 NSDHL Crystle Lee reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129721, 15689440, 25900314; Phenotypes: CK syndrome (MIM#300831); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3413 NR0B1 Ain Roesley reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19508677, 26030781; Phenotypes: Adrenal hypoplasia, congenital (MIM# 300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3413 NSDHL Crystle Lee reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: 15689440; Phenotypes: CHILD syndrome (MMIM#308050); 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 v0.3413 TFR2 Teresa Zhao reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24847265, 29743178; Phenotypes: Hemochromatosis, type 3 (MIM#604250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.3413 ORMDL3 Zornitza Stark Marked gene: ORMDL3 as ready
Mendeliome v0.3413 ORMDL3 Zornitza Stark Gene: ormdl3 has been classified as Red List (Low Evidence).
Mendeliome v0.3413 ORMDL3 Zornitza Stark Classified gene: ORMDL3 as Red List (low evidence)
Mendeliome v0.3413 ORMDL3 Zornitza Stark Gene: ormdl3 has been classified as Red List (Low Evidence).
Mendeliome v0.3412 ORMDL3 Zornitza Stark reviewed gene: ORMDL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Peroxisomal Disorders v0.4 EBP Crystle Lee gene: EBP was added
gene: EBP was added to Peroxisomal Disorders. Sources: Expert Review
Mode of inheritance for gene: EBP 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: EBP were set to 12509714
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant (MIM#302960)
Review for gene: EBP was set to AMBER
Added comment: Well reported in females with the associated condition.
Sources: Expert Review
Skeletal dysplasia v0.35 EBP Crystle Lee reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509714; Phenotypes: Chondrodysplasia punctata, X-linked dominant (MIM#302960); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Peroxisomal Disorders v0.4 FAR1 Crystle Lee gene: FAR1 was added
gene: FAR1 was added to Peroxisomal Disorders. Sources: Expert Review
Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAR1 were set to 25439727
Phenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154)
Review for gene: FAR1 was set to AMBER
Added comment: 3 variants from 2 families reported with the associated phenotype in 2014 with supporting functional studies. Amber pending additional reports.

PMID: 25439727: 3 siblings from 2 families affected by severe ID, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
Sources: Expert Review
Peroxisomal Disorders v0.4 ARSE Crystle Lee gene: ARSE was added
gene: ARSE was added to Peroxisomal Disorders. Sources: Expert Review
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARSE were set to 23470839
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive (MIM#302950)
Review for gene: ARSE was set to AMBER
Added comment: Well reported in males with Chondrodysplasia punctata due to deficiency of arylsulfatase E activity.
Sources: Expert Review
Peroxisomal Disorders v0.4 AGK Crystle Lee gene: AGK was added
gene: AGK was added to Peroxisomal Disorders. Sources: Expert Review
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGK were set to 22284826
Phenotypes for gene: AGK were set to Sengers syndrome (MIM#212350)
Review for gene: AGK was set to AMBER
Added comment: >5 families reported with Sengers syndrome, a mitochodrial condition. Unsure if qualifies for inclusion in this panel
Sources: Expert Review
Peroxisomal Disorders v0.4 ACBD5 Crystle Lee reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799409, 23105016; Phenotypes: Retinal dystrophy with leukodystrophy (MIM#618863); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3412 ABCD3 Crystle Lee reviewed gene: ABCD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168382; Phenotypes: ?Bile acid synthesis defect, congenital, 5 (MIM#616278); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.4 ABCD3 Crystle Lee reviewed gene: ABCD3: Rating: RED; Mode of pathogenicity: None; Publications: 25168382; Phenotypes: ?Bile acid synthesis defect, congenital, 5 (MIM#616278); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.193 TBC1D32 Russell Gear reviewed gene: TBC1D32: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32573025, PMID: 32060556; Phenotypes: Orofacial digital syndrome type IX, syndromic hypopituitarism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.167 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Differences of Sex Development v0.167 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.167 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from to 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Differences of Sex Development v0.166 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to
Differences of Sex Development v0.165 NR0B1 Zornitza Stark Mode of inheritance for gene: NR0B1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.164 NR0B1 Zornitza Stark Classified gene: NR0B1 as Amber List (moderate evidence)
Differences of Sex Development v0.164 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.163 NR0B1 Zornitza Stark Tag SV/CNV tag was added to gene: NR0B1.
Differences of Sex Development v0.163 NR0B1 Zornitza Stark reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 7951319; Phenotypes: 46XY sex reversal 2, dosage-sensitive, MIM# 300018; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.161 HOXA13 Zornitza Stark Marked gene: HOXA13 as ready
Differences of Sex Development v0.161 HOXA13 Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence).
Differences of Sex Development v0.161 PROKR2 Zornitza Stark Marked gene: PROKR2 as ready
Differences of Sex Development v0.161 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.161 PROKR2 Zornitza Stark Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Differences of Sex Development v0.160 PROKR2 Zornitza Stark Publications for gene: PROKR2 were set to
Differences of Sex Development v0.159 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3412 NSMF Zornitza Stark Marked gene: NSMF as ready
Mendeliome v0.3412 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Mendeliome v0.3412 NSMF Zornitza Stark Phenotypes for gene: NSMF were changed from to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Mendeliome v0.3411 NSMF Zornitza Stark Publications for gene: NSMF were set to
Mendeliome v0.3410 NSMF Zornitza Stark Mode of inheritance for gene: NSMF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3409 NSMF Zornitza Stark Classified gene: NSMF as Red List (low evidence)
Mendeliome v0.3409 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Mendeliome v0.3408 NSMF Zornitza Stark reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: 15362570, 17235395, 21700882; Phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.172 NSMF Zornitza Stark Marked gene: NSMF as ready
Callosome v0.172 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Callosome v0.172 NSMF Zornitza Stark Phenotypes for gene: NSMF were changed from to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Callosome v0.171 NSMF Zornitza Stark Mode of inheritance for gene: NSMF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.170 NSMF Zornitza Stark Classified gene: NSMF as Red List (low evidence)
Callosome v0.170 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Callosome v0.169 NSMF Zornitza Stark reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.157 NSMF Zornitza Stark Marked gene: NSMF as ready
Differences of Sex Development v0.157 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Differences of Sex Development v0.157 NSMF Zornitza Stark gene: NSMF was added
gene: NSMF was added to Disorders of Sex Differentiation. Sources: Expert list
Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Review for gene: NSMF was set to RED
Added comment: Rare variants reported in individuals with IHH; however, variants in other IHH genes also present, and at least one of the variants has a very high population frequency in gnomad (intronic 8-bp deletion ending 14 bp before exon 10 (1159-14_-22del), present in 258 individuals).
Sources: Expert list
Differences of Sex Development v0.156 SPRY4 Zornitza Stark Tag disputed tag was added to gene: SPRY4.
Mendeliome v0.3408 SPRY4 Zornitza Stark Marked gene: SPRY4 as ready
Mendeliome v0.3408 SPRY4 Zornitza Stark Gene: spry4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3408 SPRY4 Zornitza Stark Tag disputed tag was added to gene: SPRY4.
Mendeliome v0.3408 SPRY4 Zornitza Stark Phenotypes for gene: SPRY4 were changed from to Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266
Mendeliome v0.3407 SPRY4 Zornitza Stark Publications for gene: SPRY4 were set to
Mendeliome v0.3406 SPRY4 Zornitza Stark Mode of inheritance for gene: SPRY4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3405 SPRY4 Zornitza Stark Classified gene: SPRY4 as Amber List (moderate evidence)
Mendeliome v0.3405 SPRY4 Zornitza Stark Gene: spry4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3404 SPRY4 Zornitza Stark reviewed gene: SPRY4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23643382; Phenotypes: Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.169 SPRY4 Zornitza Stark Marked gene: SPRY4 as ready
Callosome v0.169 SPRY4 Zornitza Stark Gene: spry4 has been classified as Red List (Low Evidence).
Callosome v0.169 SPRY4 Zornitza Stark Phenotypes for gene: SPRY4 were changed from to Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266
Callosome v0.168 SPRY4 Zornitza Stark Publications for gene: SPRY4 were set to
Callosome v0.167 SPRY4 Zornitza Stark Mode of inheritance for gene: SPRY4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.166 SPRY4 Zornitza Stark Classified gene: SPRY4 as Red List (low evidence)
Callosome v0.166 SPRY4 Zornitza Stark Gene: spry4 has been classified as Red List (Low Evidence).
Callosome v0.165 SPRY4 Zornitza Stark reviewed gene: SPRY4: Rating: RED; Mode of pathogenicity: None; Publications: 23643382; Phenotypes: Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.156 SPRY4 Zornitza Stark Marked gene: SPRY4 as ready
Differences of Sex Development v0.156 SPRY4 Zornitza Stark Gene: spry4 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.156 SPRY4 Zornitza Stark Classified gene: SPRY4 as Amber List (moderate evidence)
Differences of Sex Development v0.156 SPRY4 Zornitza Stark Gene: spry4 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.155 SPRY4 Zornitza Stark gene: SPRY4 was added
gene: SPRY4 was added to Disorders of Sex Differentiation. Sources: Expert list
Mode of inheritance for gene: SPRY4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRY4 were set to 23643382
Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266
Review for gene: SPRY4 was set to AMBER
Added comment: 14 unrelated individuals reported originally. Three of these had variants in other IHH genes. The p.Lys177Arg variant is present in 454 individuals in gnomad, p.Ser241Tyr is present in 1279 individuals including 6 homozygotes, p.Val304Ile is present in 457 individuals. These population frequencies cast doubt on the gene-disease relationship.
Sources: Expert list
Mendeliome v0.3404 KISS1 Zornitza Stark Marked gene: KISS1 as ready
Mendeliome v0.3404 KISS1 Zornitza Stark Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3404 KISS1 Zornitza Stark Phenotypes for gene: KISS1 were changed from to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Mendeliome v0.3403 KISS1 Zornitza Stark Publications for gene: KISS1 were set to
Mendeliome v0.3402 KISS1 Zornitza Stark Mode of inheritance for gene: KISS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3401 KISS1 Zornitza Stark Classified gene: KISS1 as Amber List (moderate evidence)
Mendeliome v0.3401 KISS1 Zornitza Stark Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3400 KISS1 Zornitza Stark reviewed gene: KISS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22335740, 25783047, 22766261, 17563351; Phenotypes: Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.165 KISS1 Zornitza Stark Marked gene: KISS1 as ready
Callosome v0.165 KISS1 Zornitza Stark Gene: kiss1 has been classified as Red List (Low Evidence).
Callosome v0.165 KISS1 Zornitza Stark Phenotypes for gene: KISS1 were changed from to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Callosome v0.164 KISS1 Zornitza Stark Publications for gene: KISS1 were set to
Callosome v0.163 KISS1 Zornitza Stark Mode of inheritance for gene: KISS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.162 KISS1 Zornitza Stark Classified gene: KISS1 as Red List (low evidence)
Callosome v0.162 KISS1 Zornitza Stark Gene: kiss1 has been classified as Red List (Low Evidence).
Callosome v0.161 KISS1 Zornitza Stark reviewed gene: KISS1: Rating: RED; Mode of pathogenicity: None; Publications: 22335740, 25783047, 22766261, 17563351; Phenotypes: Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.154 KISS1 Zornitza Stark Marked gene: KISS1 as ready
Differences of Sex Development v0.154 KISS1 Zornitza Stark Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.154 KISS1 Zornitza Stark Classified gene: KISS1 as Amber List (moderate evidence)
Differences of Sex Development v0.154 KISS1 Zornitza Stark Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.153 KISS1 Zornitza Stark gene: KISS1 was added
gene: KISS1 was added to Disorders of Sex Differentiation. Sources: Expert list
Mode of inheritance for gene: KISS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KISS1 were set to 22335740; 25783047; 22766261; 17563351
Phenotypes for gene: KISS1 were set to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Review for gene: KISS1 was set to AMBER
Added comment: Reported in Turkish families, supportive mouse model, but no variants identified in other cohorts. Role of KISS1 receptor much more established.
Sources: Expert list
Differences of Sex Development v0.152 TACR3 Zornitza Stark Marked gene: TACR3 as ready
Differences of Sex Development v0.152 TACR3 Zornitza Stark Gene: tacr3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.152 TACR3 Zornitza Stark Classified gene: TACR3 as Green List (high evidence)
Differences of Sex Development v0.152 TACR3 Zornitza Stark Gene: tacr3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.151 TACR3 Zornitza Stark gene: TACR3 was added
gene: TACR3 was added to Disorders of Sex Differentiation. Sources: Expert list
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACR3 were set to 20332248; 19079066
Phenotypes for gene: TACR3 were set to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
Review for gene: TACR3 was set to GREEN
Added comment: Multiple families reported.
Sources: Expert list
Mendeliome v0.3400 INSL3 Zornitza Stark Marked gene: INSL3 as ready
Mendeliome v0.3400 INSL3 Zornitza Stark Gene: insl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3400 INSL3 Zornitza Stark Phenotypes for gene: INSL3 were changed from to Cryptorchidism, MIM# 219050
Mendeliome v0.3399 INSL3 Zornitza Stark Publications for gene: INSL3 were set to
Mendeliome v0.3398 INSL3 Zornitza Stark Mode of inheritance for gene: INSL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3397 INSL3 Zornitza Stark Classified gene: INSL3 as Amber List (moderate evidence)
Mendeliome v0.3397 INSL3 Zornitza Stark Gene: insl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3396 INSL3 Zornitza Stark reviewed gene: INSL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 12601553, 12970298, 11095425; Phenotypes: Cryptorchidism, MIM# 219050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.150 INSL3 Zornitza Stark Marked gene: INSL3 as ready
Differences of Sex Development v0.150 INSL3 Zornitza Stark Gene: insl3 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.150 INSL3 Zornitza Stark Phenotypes for gene: INSL3 were changed from to Cryptorchidism, MIM# 219050
Differences of Sex Development v0.149 INSL3 Zornitza Stark Publications for gene: INSL3 were set to
Differences of Sex Development v0.148 INSL3 Zornitza Stark Mode of inheritance for gene: INSL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.147 INSL3 Zornitza Stark Classified gene: INSL3 as Amber List (moderate evidence)
Differences of Sex Development v0.147 INSL3 Zornitza Stark Gene: insl3 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.146 INSL3 Zornitza Stark reviewed gene: INSL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 12601553, 12970298, 11095425; Phenotypes: Cryptorchidism, MIM# 219050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.161 IL17RD Zornitza Stark Marked gene: IL17RD as ready
Callosome v0.161 IL17RD Zornitza Stark Gene: il17rd has been classified as Red List (Low Evidence).
Callosome v0.161 IL17RD Zornitza Stark Phenotypes for gene: IL17RD were changed from to Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267
Callosome v0.160 IL17RD Zornitza Stark Classified gene: IL17RD as Red List (low evidence)
Callosome v0.160 IL17RD Zornitza Stark Gene: il17rd has been classified as Red List (Low Evidence).
Callosome v0.159 IL17RD Zornitza Stark reviewed gene: IL17RD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: None
Mendeliome v0.3396 IL17RD Zornitza Stark Marked gene: IL17RD as ready
Mendeliome v0.3396 IL17RD Zornitza Stark Gene: il17rd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3396 IL17RD Zornitza Stark Phenotypes for gene: IL17RD were changed from to Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267
Mendeliome v0.3395 IL17RD Zornitza Stark Publications for gene: IL17RD were set to
Mendeliome v0.3394 IL17RD Zornitza Stark Mode of inheritance for gene: IL17RD was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3393 IL17RD Zornitza Stark Classified gene: IL17RD as Amber List (moderate evidence)
Mendeliome v0.3393 IL17RD Zornitza Stark Gene: il17rd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3392 IL17RD Zornitza Stark reviewed gene: IL17RD: Rating: AMBER; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.146 IL17RD Zornitza Stark Tag disputed tag was added to gene: IL17RD.
Differences of Sex Development v0.146 IL17RD Zornitza Stark Marked gene: IL17RD as ready
Differences of Sex Development v0.146 IL17RD Zornitza Stark Gene: il17rd has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.146 IL17RD Zornitza Stark Phenotypes for gene: IL17RD were changed from to Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267
Differences of Sex Development v0.145 IL17RD Zornitza Stark Publications for gene: IL17RD were set to
Differences of Sex Development v0.144 IL17RD Zornitza Stark Mode of inheritance for gene: IL17RD was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.143 IL17RD Zornitza Stark Classified gene: IL17RD as Amber List (moderate evidence)
Differences of Sex Development v0.143 IL17RD Zornitza Stark Gene: il17rd has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.142 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: AMBER
Differences of Sex Development v0.142 IL17RD Zornitza Stark reviewed gene: IL17RD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.142 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Differences of Sex Development v0.142 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Differences of Sex Development v0.142 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from to Perrault syndrome 1, MIM# 233400
Differences of Sex Development v0.141 HSD17B4 Zornitza Stark Publications for gene: HSD17B4 were set to
Differences of Sex Development v0.140 HSD17B4 Zornitza Stark Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.139 HSD17B4 Zornitza Stark reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24553428, 23181892; Phenotypes: Perrault syndrome 1, MIM# 233400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.159 HS6ST1 Zornitza Stark Marked gene: HS6ST1 as ready
Callosome v0.159 HS6ST1 Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence).
Callosome v0.159 HS6ST1 Zornitza Stark Phenotypes for gene: HS6ST1 were changed from to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
Callosome v0.158 HS6ST1 Zornitza Stark Publications for gene: HS6ST1 were set to
Callosome v0.157 HS6ST1 Zornitza Stark Mode of inheritance for gene: HS6ST1 was changed from Unknown to Other
Callosome v0.156 HS6ST1 Zornitza Stark Classified gene: HS6ST1 as Red List (low evidence)
Callosome v0.156 HS6ST1 Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence).
Callosome v0.155 HS6ST1 Zornitza Stark reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: Other
Mendeliome v0.3392 HS6ST1 Zornitza Stark Mode of inheritance for gene: HS6ST1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Mendeliome v0.3391 HS6ST1 Zornitza Stark edited their review of gene: HS6ST1: Changed mode of inheritance: Other
Mendeliome v0.3391 HS6ST1 Zornitza Stark Marked gene: HS6ST1 as ready
Mendeliome v0.3391 HS6ST1 Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence).
Mendeliome v0.3391 HS6ST1 Zornitza Stark Phenotypes for gene: HS6ST1 were changed from to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
Mendeliome v0.3390 HS6ST1 Zornitza Stark Publications for gene: HS6ST1 were set to
Mendeliome v0.3389 HS6ST1 Zornitza Stark Mode of inheritance for gene: HS6ST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3388 HS6ST1 Zornitza Stark Classified gene: HS6ST1 as Red List (low evidence)
Mendeliome v0.3388 HS6ST1 Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence).
Mendeliome v0.3387 HS6ST1 Zornitza Stark reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.139 HS6ST1 Zornitza Stark Marked gene: HS6ST1 as ready
Differences of Sex Development v0.139 HS6ST1 Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.139 HS6ST1 Zornitza Stark Phenotypes for gene: HS6ST1 were changed from to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
Differences of Sex Development v0.138 HS6ST1 Zornitza Stark Publications for gene: HS6ST1 were set to
Differences of Sex Development v0.137 HS6ST1 Zornitza Stark Mode of inheritance for gene: HS6ST1 was changed from Unknown to Other
Differences of Sex Development v0.136 HS6ST1 Zornitza Stark Classified gene: HS6ST1 as Red List (low evidence)
Differences of Sex Development v0.136 HS6ST1 Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.135 HS6ST1 Zornitza Stark reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: Other
Differences of Sex Development v0.135 HOXA13 Zornitza Stark Phenotypes for gene: HOXA13 were changed from to Hand-foot-uterus syndrome, MIM# 140000
Differences of Sex Development v0.134 HOXA13 Zornitza Stark Publications for gene: HOXA13 were set to
Differences of Sex Development v0.133 HOXA13 Zornitza Stark Mode of inheritance for gene: HOXA13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.132 HOXA13 Zornitza Stark reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: None; Publications: 10839976, 9020844; Phenotypes: Hand-foot-uterus syndrome, MIM# 140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.132 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Differences of Sex Development v0.132 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.132 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from to Pituitary hormone deficiency, combined, 5, MIM# 182230
Differences of Sex Development v0.131 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.130 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.155 GNRH1 Zornitza Stark Marked gene: GNRH1 as ready
Callosome v0.155 GNRH1 Zornitza Stark Gene: gnrh1 has been classified as Red List (Low Evidence).
Callosome v0.155 GNRH1 Zornitza Stark Phenotypes for gene: GNRH1 were changed from to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841
Callosome v0.154 GNRH1 Zornitza Stark Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.153 GNRH1 Zornitza Stark Classified gene: GNRH1 as Red List (low evidence)
Callosome v0.153 GNRH1 Zornitza Stark Gene: gnrh1 has been classified as Red List (Low Evidence).
Callosome v0.152 GNRH1 Zornitza Stark reviewed gene: GNRH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3387 GNRH1 Zornitza Stark Marked gene: GNRH1 as ready
Mendeliome v0.3387 GNRH1 Zornitza Stark Gene: gnrh1 has been classified as Green List (High Evidence).
Mendeliome v0.3387 GNRH1 Zornitza Stark Phenotypes for gene: GNRH1 were changed from to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841
Mendeliome v0.3386 GNRH1 Zornitza Stark Publications for gene: GNRH1 were set to
Mendeliome v0.3385 GNRH1 Zornitza Stark Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3384 GNRH1 Zornitza Stark reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19535795, 19567835, 32134721, 31200363, 26595427; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.130 GNRH1 Zornitza Stark Marked gene: GNRH1 as ready
Differences of Sex Development v0.130 GNRH1 Zornitza Stark Gene: gnrh1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.130 GNRH1 Zornitza Stark Phenotypes for gene: GNRH1 were changed from to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841
Differences of Sex Development v0.129 GNRH1 Zornitza Stark Publications for gene: GNRH1 were set to
Differences of Sex Development v0.128 GNRH1 Zornitza Stark Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.127 GNRH1 Zornitza Stark reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19535795, 19567835, 32134721, 31200363, 26595427; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2776 ZNF462 Zornitza Stark Phenotypes for gene: ZNF462 were changed from Weiss-Kruszka syndrome; OMIM# 618619 to Weiss-Kruszka syndrome, OMIM# 618619
Intellectual disability syndromic and non-syndromic v0.2775 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to PubMed: 31361404; 28513610
Mendeliome v0.3384 KIF3B Zornitza Stark Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly; Retinitis pigmentosa 89, MIM#618955
Mendeliome v0.3383 KIF3B Zornitza Stark edited their review of gene: KIF3B: Changed phenotypes: hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly, Retinitis pigmentosa 89, MIM#618955
Ciliopathies v0.193 KIF3B Zornitza Stark Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly; Retinitis pigmentosa 89, MIM#618955
Ciliopathies v0.192 KIF3B Zornitza Stark edited their review of gene: KIF3B: Changed phenotypes: hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly, Retinitis pigmentosa 89, MIM#618955
Genetic Epilepsy v0.756 CUX2 Zornitza Stark Marked gene: CUX2 as ready
Genetic Epilepsy v0.756 CUX2 Zornitza Stark Gene: cux2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.756 CUX2 Zornitza Stark Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, MIM#618141
Genetic Epilepsy v0.755 CUX2 Zornitza Stark Publications for gene: CUX2 were set to
Genetic Epilepsy v0.754 CUX2 Zornitza Stark Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.753 CUX2 Zornitza Stark reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2963073, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, MIM#618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3383 CUX2 Zornitza Stark Marked gene: CUX2 as ready
Mendeliome v0.3383 CUX2 Zornitza Stark Added comment: Comment when marking as ready: At least 10 individuals reported with same recurrent de novo missense variant.
Mendeliome v0.3383 CUX2 Zornitza Stark Gene: cux2 has been classified as Green List (High Evidence).
Mendeliome v0.3383 CUX2 Zornitza Stark Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, MIM#618141
Mendeliome v0.3382 CUX2 Zornitza Stark Publications for gene: CUX2 were set to
Mendeliome v0.3381 CUX2 Zornitza Stark Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v0.96 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Congenital Disorders of Glycosylation v0.96 DPM1 Zornitza Stark Gene: dpm1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.96 DPM1 Zornitza Stark Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, MIM# 608799
Congenital Disorders of Glycosylation v0.95 DPM1 Zornitza Stark Publications for gene: DPM1 were set to
Congenital Disorders of Glycosylation v0.94 DPM1 Zornitza Stark Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.93 DPM1 Zornitza Stark reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23856421, 16641202, 10642602, 10642597; Phenotypes: Congenital disorder of glycosylation, type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3380 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Mendeliome v0.3380 DPM1 Zornitza Stark Gene: dpm1 has been classified as Green List (High Evidence).
Mendeliome v0.3380 DPM1 Zornitza Stark Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, 608799
Mendeliome v0.3379 DPM1 Zornitza Stark Publications for gene: DPM1 were set to
Mendeliome v0.3378 DPM1 Zornitza Stark Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3377 CUX2 Elena Savva reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 2963073, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, 618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Periventricular Grey Matter Heterotopia v0.10 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.3377 DPM1 Elena Savva reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23856421; Phenotypes: Congenital disorder of glycosylation, type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3377 GIPC1 Zornitza Stark Marked gene: GIPC1 as ready
Mendeliome v0.3377 GIPC1 Zornitza Stark Gene: gipc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3377 GIPC1 Zornitza Stark Classified gene: GIPC1 as Amber List (moderate evidence)
Mendeliome v0.3377 GIPC1 Zornitza Stark Gene: gipc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3376 GIPC1 Zornitza Stark gene: GIPC1 was added
gene: GIPC1 was added to Mendeliome. Sources: Literature
5'UTR, STR tags were added to gene: GIPC1.
Mode of inheritance for gene: GIPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GIPC1 were set to 32413282
Phenotypes for gene: GIPC1 were set to Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940
Review for gene: GIPC1 was set to AMBER
Added comment: 19 families reported with heterozygous trinucleotide repeat expansion in the 5-prime untranslated region and onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. Note this is unlikely to be tractable currently by most NGS assays.
Sources: Literature
Mendeliome v0.3375 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Mendeliome v0.3375 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Mendeliome v0.3375 SMC3 Zornitza Stark Phenotypes for gene: SMC3 were changed from to Cornelia de Lange syndrome 3, MIM#610759
Mendeliome v0.3374 SMC3 Zornitza Stark Publications for gene: SMC3 were set to
Mendeliome v0.3373 SMC3 Zornitza Stark Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2774 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Intellectual disability syndromic and non-syndromic v0.2774 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2774 DEAF1 Zornitza Stark Phenotypes for gene: DEAF1 were changed from to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828
Intellectual disability syndromic and non-syndromic v0.2773 DEAF1 Zornitza Stark Publications for gene: DEAF1 were set to
Intellectual disability syndromic and non-syndromic v0.2772 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2771 DEAF1 Zornitza Stark reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30923367, 24726472, 26048982, 28940898, 26834045; Phenotypes: Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171, Vulto-van Silfout-de Vries syndrome 615828; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3372 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Mendeliome v0.3372 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Mendeliome v0.3372 DEAF1 Zornitza Stark Phenotypes for gene: DEAF1 were changed from to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828
Mendeliome v0.3371 DEAF1 Zornitza Stark Publications for gene: DEAF1 were set to
Mendeliome v0.3370 DEAF1 Zornitza Stark Mode of pathogenicity for gene: DEAF1 was changed from to Other
Mendeliome v0.3369 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 RIPK4 Zornitza Stark Marked gene: RIPK4 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 RIPK4 Zornitza Stark Classified gene: RIPK4 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.2 RIPK4 Zornitza Stark gene: RIPK4 was added
gene: RIPK4 was added to Multiple pterygium syndrome. Sources: Expert Review
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK4 were set to 28940926; 22197489; 22197488
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650
Review for gene: RIPK4 was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert Review
Arthrogryposis v0.189 RIPK4 Zornitza Stark Marked gene: RIPK4 as ready
Arthrogryposis v0.189 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Arthrogryposis v0.189 RIPK4 Zornitza Stark Phenotypes for gene: RIPK4 were changed from to Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650
Arthrogryposis v0.188 RIPK4 Zornitza Stark Publications for gene: RIPK4 were set to
Arthrogryposis v0.187 RIPK4 Zornitza Stark Mode of inheritance for gene: RIPK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.186 RIPK4 Zornitza Stark reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940926, 22197489, 22197488; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3368 SMC3 Elena Savva reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 18996922, 25655089, 31334757; Phenotypes: ornelia de Lange syndrome 3, 610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.3368 DEAF1 Elena Savva reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 30923367, PMID 24726472; Phenotypes: Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171, Vulto-van Silfout-de Vries syndrome 615828; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.753 GRM7 Zornitza Stark Phenotypes for gene: GRM7 were changed from Epilepsy, microcephaly, developmental delay to Epilepsy, microcephaly, developmental delay; neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922
Microcephaly v0.140 GRM7 Zornitza Stark Phenotypes for gene: GRM7 were changed from Epilepsy, microcephaly, developmental delay to Epilepsy, microcephaly, developmental delay; neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922
Microcephaly v0.139 GRM7 Zornitza Stark edited their review of gene: GRM7: Changed phenotypes: Epilepsy, microcephaly, developmental delay, neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922
Mendeliome v0.3368 GRM7 Zornitza Stark Phenotypes for gene: GRM7 were changed from Epilepsy, microcephaly, developmental delay to Epilepsy, microcephaly, developmental delay; neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922
Mendeliome v0.3367 GRM7 Zornitza Stark edited their review of gene: GRM7: Changed phenotypes: Epilepsy, microcephaly, developmental delay, neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922
Intellectual disability syndromic and non-syndromic v0.2771 GRM7 Zornitza Stark Phenotypes for gene: GRM7 were changed from Epilepsy, microcephaly, developmental delay to Epilepsy, microcephaly, developmental delay; neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922
Intellectual disability syndromic and non-syndromic v0.2770 GRM7 Zornitza Stark edited their review of gene: GRM7: Changed phenotypes: Epilepsy, microcephaly, developmental delay, neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922
Mendeliome v0.3367 CLCC1 Zornitza Stark Phenotypes for gene: CLCC1 were changed from Retinitis pigmentosa 32 to Retinitis pigmentosa 32, MIM# 609913
Retinitis pigmentosa v0.56 CLCC1 Zornitza Stark Phenotypes for gene: CLCC1 were changed from Retinitis pigmentosa 32 to Retinitis pigmentosa 32, MIM# 609913
Retinitis pigmentosa v0.55 CLCC1 Zornitza Stark reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30157172; Phenotypes: Retinitis pigmentosa 32, MIM# 609913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3366 ABCC9 Zornitza Stark Marked gene: ABCC9 as ready
Mendeliome v0.3366 ABCC9 Zornitza Stark Gene: abcc9 has been classified as Green List (High Evidence).
Mendeliome v0.3366 ABCC9 Zornitza Stark Phenotypes for gene: ABCC9 were changed from to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome; mild ID, similar facies, myopathy, cerebral white matter hyperintensities; cardiac systolic dysfunction
Mendeliome v0.3365 ABCC9 Zornitza Stark Publications for gene: ABCC9 were set to
Mendeliome v0.3364 ABCC9 Zornitza Stark Mode of inheritance for gene: ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3363 ABCC9 Zornitza Stark reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31575858, 22610116, 22608503; Phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850, Cantu syndrome, mild ID, similar facies, myopathy, cerebral white matter hyperintensities, cardiac systolic dysfunction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v0.93 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Differences of Sex Development v0.127 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.3363 TSPYL1 Zornitza Stark Marked gene: TSPYL1 as ready
Mendeliome v0.3363 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3363 TSPYL1 Zornitza Stark Phenotypes for gene: TSPYL1 were changed from to Sudden infant death with dysgenesis of the testes syndrome (MIM#608800)
Mendeliome v0.3362 TSPYL1 Zornitza Stark Publications for gene: TSPYL1 were set to
Mendeliome v0.3361 TSPYL1 Zornitza Stark Mode of inheritance for gene: TSPYL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3360 TSPYL1 Zornitza Stark Classified gene: TSPYL1 as Amber List (moderate evidence)
Mendeliome v0.3360 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.126 TSPYL1 Zornitza Stark Tag disputed tag was added to gene: TSPYL1.
Mendeliome v0.3359 TSPYL1 Zornitza Stark reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 19463995, 22137496, 25449952, 16418600; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.126 TSPYL1 Zornitza Stark Classified gene: TSPYL1 as Amber List (moderate evidence)
Differences of Sex Development v0.126 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.125 TSPYL1 Zornitza Stark Marked gene: TSPYL1 as ready
Differences of Sex Development v0.125 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.125 TSPYL1 Zornitza Stark Phenotypes for gene: TSPYL1 were changed from to Sudden infant death with dysgenesis of the testes syndrome (MIM#608800)
Differences of Sex Development v0.124 TSPYL1 Zornitza Stark Publications for gene: TSPYL1 were set to
Differences of Sex Development v0.123 TSPYL1 Zornitza Stark Mode of inheritance for gene: TSPYL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.122 TSPYL1 Zornitza Stark Classified gene: TSPYL1 as Red List (low evidence)
Differences of Sex Development v0.122 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.121 WDR11 Zornitza Stark Marked gene: WDR11 as ready
Differences of Sex Development v0.121 WDR11 Zornitza Stark Gene: wdr11 has been classified as Green List (High Evidence).
Differences of Sex Development v0.121 WDR11 Zornitza Stark Phenotypes for gene: WDR11 were changed from to Hypogonadotropic hypogonadism 14 with or without anosmia, MIM#614858
Differences of Sex Development v0.120 WDR11 Zornitza Stark Publications for gene: WDR11 were set to
Differences of Sex Development v0.119 WDR11 Zornitza Stark Mode of inheritance for gene: WDR11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.118 KISS1R Zornitza Stark Marked gene: KISS1R as ready
Differences of Sex Development v0.118 KISS1R Zornitza Stark Gene: kiss1r has been classified as Green List (High Evidence).
Differences of Sex Development v0.118 KISS1R Zornitza Stark Phenotypes for gene: KISS1R were changed from to Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)
Differences of Sex Development v0.117 KISS1R Zornitza Stark Publications for gene: KISS1R were set to
Differences of Sex Development v0.116 KISS1R Zornitza Stark Mode of inheritance for gene: KISS1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.92 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events to portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Congenital Disorders of Glycosylation v0.92 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events to portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Mendeliome v0.3359 PIGM Zornitza Stark Marked gene: PIGM as ready
Mendeliome v0.3359 PIGM Zornitza Stark Gene: pigm has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3359 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from to Glycosylphosphatidylinositol deficiency, MIM# 610293; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Mendeliome v0.3358 PIGM Zornitza Stark Publications for gene: PIGM were set to
Mendeliome v0.3357 PIGM Zornitza Stark Mode of inheritance for gene: PIGM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3356 PIGM Zornitza Stark Classified gene: PIGM as Amber List (moderate evidence)
Mendeliome v0.3356 PIGM Zornitza Stark Gene: pigm has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3355 PIGM Zornitza Stark Tag founder tag was added to gene: PIGM.
Differences of Sex Development v0.115 LEP Zornitza Stark Marked gene: LEP as ready
Differences of Sex Development v0.115 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Mendeliome v0.3355 LEP Zornitza Stark Marked gene: LEP as ready
Mendeliome v0.3355 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Mendeliome v0.3355 LEP Zornitza Stark Phenotypes for gene: LEP were changed from to Obesity, morbid, due to leptin deficiency (MIM#614962)
Mendeliome v0.3354 LEP Zornitza Stark Publications for gene: LEP were set to
Mendeliome v0.3353 LEP Zornitza Stark Mode of inheritance for gene: LEP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.115 LEP Zornitza Stark Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency (MIM#614962) to Obesity, morbid, due to leptin deficiency (MIM#614962)
Congenital Disorders of Glycosylation v0.91 ST3GAL3 Zornitza Stark Marked gene: ST3GAL3 as ready
Congenital Disorders of Glycosylation v0.91 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.115 LEP Zornitza Stark Phenotypes for gene: LEP were changed from to Obesity, morbid, due to leptin deficiency (MIM#614962)
Differences of Sex Development v0.114 LEP Zornitza Stark Publications for gene: LEP were set to
Differences of Sex Development v0.113 LEP Zornitza Stark Mode of inheritance for gene: LEP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.91 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Congenital Disorders of Glycosylation v0.91 NUS1 Zornitza Stark Gene: nus1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.91 ST3GAL3 Zornitza Stark Phenotypes for gene: ST3GAL3 were changed from to Mental retardation, autosomal recessive 12 MIM# 611090
Congenital Disorders of Glycosylation v0.91 NUS1 Zornitza Stark Publications for gene: NUS1 were set to
Mendeliome v0.3352 LEPR Zornitza Stark Marked gene: LEPR as ready
Mendeliome v0.3352 LEPR Zornitza Stark Gene: lepr has been classified as Green List (High Evidence).
Mendeliome v0.3352 LEPR Zornitza Stark Phenotypes for gene: LEPR were changed from to Obesity, morbid, due to leptin receptor deficiency (MIM#614963)
Mendeliome v0.3351 LEPR Zornitza Stark Publications for gene: LEPR were set to
Mendeliome v0.3350 LEPR Zornitza Stark Mode of inheritance for gene: LEPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.112 LEPR Zornitza Stark Marked gene: LEPR as ready
Differences of Sex Development v0.112 LEPR Zornitza Stark Gene: lepr has been classified as Green List (High Evidence).
Differences of Sex Development v0.112 LEPR Zornitza Stark Phenotypes for gene: LEPR were changed from to Obesity, morbid, due to leptin receptor deficiency (MIM#614963)
Differences of Sex Development v0.111 LEPR Zornitza Stark Publications for gene: LEPR were set to
Differences of Sex Development v0.110 LEPR Zornitza Stark Mode of inheritance for gene: LEPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.109 FGF17 Zornitza Stark Marked gene: FGF17 as ready
Differences of Sex Development v0.109 FGF17 Zornitza Stark Added comment: Comment when marking as ready: Borderline Green/Amber: contribution may not be monogenic.
Differences of Sex Development v0.109 FGF17 Zornitza Stark Gene: fgf17 has been classified as Green List (High Evidence).
Differences of Sex Development v0.109 FGF17 Zornitza Stark Publications for gene: FGF17 were set to
Differences of Sex Development v0.108 FGF17 Zornitza Stark Mode of inheritance for gene: FGF17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.107 FGF17 Zornitza Stark reviewed gene: FGF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643382, 31748124; Phenotypes: Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.107 LHB Zornitza Stark Marked gene: LHB as ready
Differences of Sex Development v0.107 LHB Zornitza Stark Gene: lhb has been classified as Green List (High Evidence).
Differences of Sex Development v0.107 LHB Zornitza Stark Phenotypes for gene: LHB were changed from to Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300)
Differences of Sex Development v0.106 LHB Zornitza Stark Publications for gene: LHB were set to
Differences of Sex Development v0.105 LHB Zornitza Stark Mode of inheritance for gene: LHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.104 FEZF1 Zornitza Stark Marked gene: FEZF1 as ready
Differences of Sex Development v0.104 FEZF1 Zornitza Stark Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.104 FEZF1 Zornitza Stark Phenotypes for gene: FEZF1 were changed from to Hypogonadotropic hypogonadism 22, with or without anosmia 616030
Differences of Sex Development v0.103 FEZF1 Zornitza Stark Publications for gene: FEZF1 were set to
Differences of Sex Development v0.102 FEZF1 Zornitza Stark Mode of inheritance for gene: FEZF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.101 FEZF1 Zornitza Stark Classified gene: FEZF1 as Amber List (moderate evidence)
Differences of Sex Development v0.101 FEZF1 Zornitza Stark Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3349 FEZF1 Zornitza Stark Marked gene: FEZF1 as ready
Mendeliome v0.3349 FEZF1 Zornitza Stark Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3349 FEZF1 Zornitza Stark Phenotypes for gene: FEZF1 were changed from to Hypogonadotropic hypogonadism 22, with or without anosmia, MIM# 616030
Mendeliome v0.3348 FEZF1 Zornitza Stark Publications for gene: FEZF1 were set to
Mendeliome v0.3347 FEZF1 Zornitza Stark Mode of inheritance for gene: FEZF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3346 FEZF1 Zornitza Stark Classified gene: FEZF1 as Amber List (moderate evidence)
Mendeliome v0.3346 FEZF1 Zornitza Stark Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3345 ESR2 Zornitza Stark Marked gene: ESR2 as ready
Mendeliome v0.3345 ESR2 Zornitza Stark Gene: esr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3345 ESR2 Zornitza Stark Phenotypes for gene: ESR2 were changed from to 46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187
Mendeliome v0.3344 ESR2 Zornitza Stark Publications for gene: ESR2 were set to
Mendeliome v0.3343 ESR2 Zornitza Stark Mode of inheritance for gene: ESR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3342 ESR2 Zornitza Stark reviewed gene: ESR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29261182, 9861029, 30113650; Phenotypes: 46,XY disorder of sex development, Ovarian dysgenesis 8, MIM# 618187; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.90 NUS1 Zornitza Stark Phenotypes for gene: NUS1 were changed from to Congenital disorder of glycosylation, type 1aa, MIM#610463
Differences of Sex Development v0.100 ESR2 Zornitza Stark Marked gene: ESR2 as ready
Differences of Sex Development v0.100 ESR2 Zornitza Stark Gene: esr2 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.100 ESR2 Zornitza Stark Phenotypes for gene: ESR2 were changed from 46,XY Disorders of Sex Development to 46,XY Disorders of Sex Development; Ovarian dysgenesis 8, MIM# 618187
Differences of Sex Development v0.99 ESR2 Zornitza Stark Publications for gene: ESR2 were set to 29261182; 9861029
Differences of Sex Development v0.98 ESR2 Zornitza Stark Classified gene: ESR2 as Amber List (moderate evidence)
Differences of Sex Development v0.98 ESR2 Zornitza Stark Gene: esr2 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.97 ESR2 Zornitza Stark reviewed gene: ESR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30113650; Phenotypes: Ovarian dysgenesis 8, MIM# 618187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.97 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Differences of Sex Development v0.97 ERAL1 Zornitza Stark Gene: eral1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.97 ERAL1 Zornitza Stark Classified gene: ERAL1 as Red List (low evidence)
Differences of Sex Development v0.97 ERAL1 Zornitza Stark Gene: eral1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.96 ERAL1 Zornitza Stark reviewed gene: ERAL1: Rating: RED; Mode of pathogenicity: None; Publications: 28449065; Phenotypes: Perrault syndrome 6, MIM# 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.96 MKKS Zornitza Stark reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome (MIM#236700); Mode of inheritance: None
Differences of Sex Development v0.96 MKKS Zornitza Stark Marked gene: MKKS as ready
Differences of Sex Development v0.96 MKKS Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
Differences of Sex Development v0.96 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome (MIM#236700)
Differences of Sex Development v0.95 MKKS Zornitza Stark Publications for gene: MKKS were set to
Differences of Sex Development v0.94 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.93 MKKS Zornitza Stark Classified gene: MKKS as Red List (low evidence)
Differences of Sex Development v0.93 MKKS Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.89 ST3GAL3 Zornitza Stark Publications for gene: ST3GAL3 were set to
Congenital Disorders of Glycosylation v0.88 CCDC115 Zornitza Stark Marked gene: CCDC115 as ready
Congenital Disorders of Glycosylation v0.88 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.88 CCDC115 Zornitza Stark Classified gene: CCDC115 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.88 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.87 ST3GAL3 Zornitza Stark Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.86 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Congenital Disorders of Glycosylation v0.86 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.86 ST3GAL3 Zornitza Stark Classified gene: ST3GAL3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.86 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.85 B3GLCT Zornitza Stark Classified gene: B3GLCT as Green List (high evidence)
Congenital Disorders of Glycosylation v0.85 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.84 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Congenital Disorders of Glycosylation v0.84 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.84 TMEM199 Zornitza Stark Marked gene: TMEM199 as ready
Congenital Disorders of Glycosylation v0.84 TMEM199 Zornitza Stark Gene: tmem199 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.84 TMEM199 Zornitza Stark Classified gene: TMEM199 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.84 TMEM199 Zornitza Stark Gene: tmem199 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.83 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Congenital Disorders of Glycosylation v0.82 TRIP11 Zornitza Stark Marked gene: TRIP11 as ready
Congenital Disorders of Glycosylation v0.82 TRIP11 Zornitza Stark Gene: trip11 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.92 KISS1R Crystle Lee reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164310, 31073722, 14573733; Phenotypes: Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.82 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Congenital Disorders of Glycosylation v0.81 PAPSS2 Zornitza Stark Mode of inheritance for gene: PAPSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.80 CCDC115 Ain Roesley gene: CCDC115 was added
gene: CCDC115 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC115 were set to 26833332
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo (MIM# 616828)
Penetrance for gene: CCDC115 were set to unknown
Review for gene: CCDC115 was set to GREEN
Added comment: PMID: 26833332
- 8 affecteds from 5 families. Abnormal N-and mucin type O-glycosylation was found on serum proteins, and reduced metabolic labeling of sialic acids was found in fibroblasts.
Sources: Literature
Congenital Disorders of Glycosylation v0.80 PAPSS2 Zornitza Stark Classified gene: PAPSS2 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.80 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.79 TRIP11 Zornitza Stark Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.78 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Congenital Disorders of Glycosylation v0.78 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.78 NUS1 Zornitza Stark Mode of inheritance for gene: NUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.77 NUS1 Zornitza Stark Classified gene: NUS1 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.77 NUS1 Zornitza Stark Gene: nus1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.76 TRIP11 Zornitza Stark Publications for gene: TRIP11 were set to
Congenital Disorders of Glycosylation v0.76 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from to Congenital disorder of glycosylation, type Ii (MIM# 607906)
Congenital Disorders of Glycosylation v0.75 ALG2 Zornitza Stark Publications for gene: ALG2 were set to
Congenital Disorders of Glycosylation v0.74 TRIP11 Zornitza Stark Classified gene: TRIP11 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.74 TRIP11 Zornitza Stark Gene: trip11 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.73 TRIP11 Zornitza Stark reviewed gene: TRIP11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achondrogenesis, type IA MIM# 200600, Osteochondrodysplasia MIM# 184260; Mode of inheritance: None
Congenital Disorders of Glycosylation v0.73 ALG2 Zornitza Stark Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.72 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Congenital Disorders of Glycosylation v0.72 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.72 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.72 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.71 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.71 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.70 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Congenital Disorders of Glycosylation v0.70 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.70 ST3GAL3 Paul De Fazio changed review comment from: 1 family described with West syndrome (PMID: 23252400). 2 unrelated consanguineous families described in PMID: 21907012. Functional testing supports abnormal enzyme function in all cases but no biochemical studies on patients.

ST3GAL3 located on chr1p34.1 encodes the β-galactoside-α2,3-sialyltransferase-III (ST3Gal-III), which in humans predominantly forms the sialyl Lewis a (sLe a) epitope on glycoproteins.

This gene is on the Invitae and EGL CDG panels.; to: 1 family described with West syndrome (PMID: 23252400). 2 unrelated consanguineous families described in PMID: 21907012 with ID. Functional testing supports abnormal enzyme function in all cases but no biochemical studies on patients.

ST3GAL3 located on chr1p34.1 encodes the β-galactoside-α2,3-sialyltransferase-III (ST3Gal-III), which in humans predominantly forms the sialyl Lewis a (sLe a) epitope on glycoproteins.

This gene is on the Invitae and EGL CDG panels.
Congenital Disorders of Glycosylation v0.70 ST3GAL3 Paul De Fazio reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 23252400, 21907012; Phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.70 TRAPPC11 Zornitza Stark Classified gene: TRAPPC11 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.70 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.69 XYLT2 Zornitza Stark Marked gene: XYLT2 as ready
Congenital Disorders of Glycosylation v0.69 XYLT2 Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.69 TRAPPC11 Zornitza Stark reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108, 26912795, 27707803, 27862579, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.69 XYLT2 Zornitza Stark Phenotypes for gene: XYLT2 were changed from to Spondyloocular syndrome MIM# 605822
Congenital Disorders of Glycosylation v0.68 XYLT2 Zornitza Stark Classified gene: XYLT2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.68 XYLT2 Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.67 ALG13 Zornitza Stark Marked gene: ALG13 as ready
Congenital Disorders of Glycosylation v0.67 ALG13 Zornitza Stark Gene: alg13 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.67 ALG13 Zornitza Stark Phenotypes for gene: ALG13 were changed from to Congenital disorder of glycosylation, type Is (MIM# 300884)
Congenital Disorders of Glycosylation v0.66 PIGW Zornitza Stark Marked gene: PIGW as ready
Congenital Disorders of Glycosylation v0.66 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.66 PIGW Zornitza Stark Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; intractable seizures; West syndrome; severe developmental delay; dysmorphic facial features; hyperphosphatasia; epilepsy; recurrent respiratory infections; hypotonia; stereotypies
Congenital Disorders of Glycosylation v0.65 PIGW Zornitza Stark Publications for gene: PIGW were set to
Congenital Disorders of Glycosylation v0.64 PIGW Zornitza Stark Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.63 ALG13 Zornitza Stark Publications for gene: ALG13 were set to 22492991; 28887793; 26138355
Congenital Disorders of Glycosylation v0.62 PIGM Zornitza Stark Marked gene: PIGM as ready
Congenital Disorders of Glycosylation v0.62 PIGM Zornitza Stark Gene: pigm has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.62 PIGM Zornitza Stark Tag founder tag was added to gene: PIGM.
Mendeliome v0.3342 PIGM Paul De Fazio reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: None; Publications: 31445883, 16767100; Phenotypes: portal vein thrombosis, persistent absence seizures, macrocephaly, infantile-onset cerebrovascular thrombotic events; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.62 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from to portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Congenital Disorders of Glycosylation v0.62 ALG13 Zornitza Stark Publications for gene: ALG13 were set to
Congenital Disorders of Glycosylation v0.61 PIGM Zornitza Stark Publications for gene: PIGM were set to
Congenital Disorders of Glycosylation v0.60 ALG13 Zornitza Stark Mode of inheritance for gene: ALG13 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.60 PIGM Zornitza Stark Mode of inheritance for gene: PIGM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.59 PIGM Zornitza Stark Classified gene: PIGM as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.59 PIGM Zornitza Stark Gene: pigm has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3342 LEP Crystle Lee reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26567097; Phenotypes: Obesity, morbid, due to leptin deficiency (MIM#614962); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.58 ALG13 Zornitza Stark Classified gene: ALG13 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.58 ALG13 Zornitza Stark Gene: alg13 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.92 LEP Crystle Lee reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26567097, 31483094; Phenotypes: Obesity, morbid, due to leptin deficiency (MIM#614962); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3342 DMRT1 Zornitza Stark Marked gene: DMRT1 as ready
Mendeliome v0.3342 DMRT1 Zornitza Stark Gene: dmrt1 has been classified as Red List (Low Evidence).
Mendeliome v0.3342 DMRT1 Zornitza Stark Phenotypes for gene: DMRT1 were changed from to Azoospermia
Mendeliome v0.3341 DMRT1 Zornitza Stark Publications for gene: DMRT1 were set to
Mendeliome v0.3340 DMRT1 Zornitza Stark Mode of inheritance for gene: DMRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3339 DMRT1 Zornitza Stark Classified gene: DMRT1 as Red List (low evidence)
Mendeliome v0.3339 DMRT1 Zornitza Stark Gene: dmrt1 has been classified as Red List (Low Evidence).
Mendeliome v0.3338 DMRT1 Zornitza Stark reviewed gene: DMRT1: Rating: RED; Mode of pathogenicity: None; Publications: 31479588, 24934491, 29527098; Phenotypes: Azoospermia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.92 DMRT1 Zornitza Stark Marked gene: DMRT1 as ready
Differences of Sex Development v0.92 DMRT1 Zornitza Stark Gene: dmrt1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.92 DMRT1 Zornitza Stark Classified gene: DMRT1 as Red List (low evidence)
Differences of Sex Development v0.92 DMRT1 Zornitza Stark Gene: dmrt1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.91 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Differences of Sex Development v0.91 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.91 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, MIM# 602398
Differences of Sex Development v0.90 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Differences of Sex Development v0.89 DHCR24 Zornitza Stark Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.88 DHCR24 Zornitza Stark Classified gene: DHCR24 as Red List (low evidence)
Differences of Sex Development v0.88 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2770 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Intellectual disability syndromic and non-syndromic v0.2770 LHX3 Zornitza Stark Gene: lhx3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2770 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3 (MIM#221750)
Intellectual disability syndromic and non-syndromic v0.2769 LHX3 Zornitza Stark Publications for gene: LHX3 were set to
Intellectual disability syndromic and non-syndromic v0.2768 LHX3 Zornitza Stark Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2767 LHX3 Zornitza Stark Classified gene: LHX3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2767 LHX3 Zornitza Stark Gene: lhx3 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.87 CYB5A Zornitza Stark Marked gene: CYB5A as ready
Differences of Sex Development v0.87 CYB5A Zornitza Stark Gene: cyb5a has been classified as Green List (High Evidence).
Differences of Sex Development v0.87 CYB5A Zornitza Stark Phenotypes for gene: CYB5A were changed from Methemoglobinemia and ambiguous genitalia 250790 to Methemoglobinemia and ambiguous genitalia, MIM# 250790
Differences of Sex Development v0.86 CYB5A Zornitza Stark Classified gene: CYB5A as Green List (high evidence)
Differences of Sex Development v0.86 CYB5A Zornitza Stark Gene: cyb5a has been classified as Green List (High Evidence).
Differences of Sex Development v0.85 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Differences of Sex Development v0.85 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.85 LHX3 Zornitza Stark Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.84 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3 (MIM#221750)
Differences of Sex Development v0.83 LHX3 Zornitza Stark Publications for gene: LHX3 were set to
Congenital Disorders of Glycosylation v0.57 B3GLCT Ain Roesley gene: B3GLCT was added
gene: B3GLCT was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 18199743; 16909395
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome (MIM# 261540)
Penetrance for gene: B3GLCT were set to unknown
Review for gene: B3GLCT was set to GREEN
Added comment: PMID: 18199743
- 4 affecteds including 1 pair of siblings with mass spec analysis from patients' serum showing defective O-glycosylation

PMID: 16909395
- 20 affecteds from 15 families with no defective N-glycosylation however authors did not examine O-glycosylation and concluded that absence of defective glycosylation cannot be completely ruled out
Sources: Literature
Differences of Sex Development v0.82 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Differences of Sex Development v0.82 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Differences of Sex Development v0.82 CUL4B Zornitza Stark Mode of inheritance for gene: CUL4B was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.81 CUL4B Zornitza Stark Classified gene: CUL4B as Green List (high evidence)
Differences of Sex Development v0.81 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Mendeliome v0.3338 CBX2 Zornitza Stark Marked gene: CBX2 as ready
Mendeliome v0.3338 CBX2 Zornitza Stark Gene: cbx2 has been classified as Red List (Low Evidence).
Mendeliome v0.3338 CBX2 Zornitza Stark Phenotypes for gene: CBX2 were changed from to 46XY sex reversal 5, MIM# 613080
Mendeliome v0.3337 CBX2 Zornitza Stark Publications for gene: CBX2 were set to
Mendeliome v0.3336 CBX2 Zornitza Stark Mode of inheritance for gene: CBX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3335 CBX2 Zornitza Stark Classified gene: CBX2 as Red List (low evidence)
Mendeliome v0.3335 CBX2 Zornitza Stark Gene: cbx2 has been classified as Red List (Low Evidence).
Mendeliome v0.3334 CBX2 Zornitza Stark reviewed gene: CBX2: Rating: RED; Mode of pathogenicity: None; Publications: 19361780, 31719618, 23219007; Phenotypes: 46XY sex reversal 5, MIM# 613080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.80 CBX2 Zornitza Stark Marked gene: CBX2 as ready
Differences of Sex Development v0.80 CBX2 Zornitza Stark Gene: cbx2 has been classified as Red List (Low Evidence).
Mendeliome v0.3334 LEPR Crystle Lee reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17229951, 29545012; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.80 CBX2 Zornitza Stark Phenotypes for gene: CBX2 were changed from to 46XY sex reversal 5, MIM# 613080
Differences of Sex Development v0.79 CBX2 Zornitza Stark Mode of inheritance for gene: CBX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.78 CBX2 Zornitza Stark Publications for gene: CBX2 were set to
Differences of Sex Development v0.77 CBX2 Zornitza Stark Classified gene: CBX2 as Red List (low evidence)
Differences of Sex Development v0.77 CBX2 Zornitza Stark Gene: cbx2 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.76 LEPR Crystle Lee reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17229951, 29545012; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.76 CBX2 Zornitza Stark reviewed gene: CBX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 5, MIM# 613080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.76 MCM5 Zornitza Stark Marked gene: MCM5 as ready
Differences of Sex Development v0.76 MCM5 Zornitza Stark Gene: mcm5 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.76 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)
Differences of Sex Development v0.75 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)
Differences of Sex Development v0.75 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)
Differences of Sex Development v0.74 MCM5 Zornitza Stark Classified gene: MCM5 as Red List (low evidence)
Differences of Sex Development v0.74 MCM5 Zornitza Stark Gene: mcm5 has been classified as Red List (Low Evidence).
Mendeliome v0.3334 MCM5 Zornitza Stark Marked gene: MCM5 as ready
Mendeliome v0.3334 MCM5 Zornitza Stark Gene: mcm5 has been classified as Red List (Low Evidence).
Mendeliome v0.3334 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)
Mendeliome v0.3334 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 (MIM#617564) to Meier-Gorlin syndrome 8 (MIM#617564)
Mendeliome v0.3333 MCM5 Zornitza Stark Classified gene: MCM5 as Red List (low evidence)
Mendeliome v0.3333 MCM5 Zornitza Stark Gene: mcm5 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.35 MCM5 Zornitza Stark Marked gene: MCM5 as ready
Skeletal dysplasia v0.35 MCM5 Zornitza Stark Gene: mcm5 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.35 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8, MIM# 617564 to Meier-Gorlin syndrome 8, MIM# 617564
Skeletal dysplasia v0.35 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 617564 to Meier-Gorlin syndrome 8, MIM# 617564
Mendeliome v0.3332 ATF3 Zornitza Stark Marked gene: ATF3 as ready
Mendeliome v0.3332 ATF3 Zornitza Stark Gene: atf3 has been classified as Red List (Low Evidence).
Mendeliome v0.3332 ATF3 Zornitza Stark Classified gene: ATF3 as Red List (low evidence)
Mendeliome v0.3332 ATF3 Zornitza Stark Gene: atf3 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.73 ATF3 Zornitza Stark Marked gene: ATF3 as ready
Differences of Sex Development v0.73 ATF3 Zornitza Stark Gene: atf3 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.73 ATF3 Zornitza Stark Classified gene: ATF3 as Red List (low evidence)
Differences of Sex Development v0.73 ATF3 Zornitza Stark Gene: atf3 has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.31 MKKS Zornitza Stark Marked gene: MKKS as ready
Bardet Biedl syndrome v0.31 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.31 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231)
Bardet Biedl syndrome v0.30 MKKS Zornitza Stark Publications for gene: MKKS were set to
Bardet Biedl syndrome v0.29 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.72 LHB Crystle Lee reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 17761593, 28092701, 29476300, 22723313, 15602022; Phenotypes: Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.72 FEZF1 Elena Savva reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25192046, 32400067; Phenotypes: Hypogonadotropic hypogonadism 22, with or without anosmia 616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3331 FEZF1 Elena Savva reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25192046, 32400067; Phenotypes: Hypogonadotropic hypogonadism 22, with or without anosmia 616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 TMEM199 Paul De Fazio gene: TMEM199 was added
gene: TMEM199 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM199 were set to 26833330; 29321044
Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp MIM# 616829
Review for gene: TMEM199 was set to GREEN
gene: TMEM199 was marked as current diagnostic
Added comment: 4 patients from 3 unrelated families with a mild metabolic disorder primarily affecting the liver (PMID: 26833330). All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation.

A follow up publication described 3 more unrelated cases with protein glycosylation deficiency, supporting the original paper (PMID: 29321044).

Although this gene is red on PanelApp UK it has 2 green reviews (and no others).
Sources: Literature
Congenital Disorders of Glycosylation v0.57 PAPSS2 Naomi Baker reviewed gene: PAPSS2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22791835, 25594860, 31461705, 23633440, 9771708, 19474428.; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 NUS1 Belinda Chong reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 610463, 25066056; Phenotypes: Congenital disorder of glycosylation, type 1aa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 TRIP11 Paul De Fazio reviewed gene: TRIP11: Rating: AMBER; Mode of pathogenicity: None; Publications: 29872333, 20089971, 30728324, 30518689; Phenotypes: Achondrogenesis, type IA MIM# 200600, Osteochondrodysplasia MIM# 184260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Differences of Sex Development v0.72 ERAL1 Elena Savva gene: ERAL1 was added
gene: ERAL1 was added to Disorders of Sex Differentiation. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to PMID: 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6 617565
Review for gene: ERAL1 was set to AMBER
Added comment: PMID: 28449065 - 3 unrelated patient with perrault syndrome with the same founder missense (p.Asn236Ile). Symptoms included hearing loss, premature ovarian failure, primary amenorrhea
Supported by functional analysis on patient cells, and transfected yeast reciprocating the phenotype.
Sources: Expert list
Congenital Disorders of Glycosylation v0.57 ATP6AP1 Ain Roesley gene: ATP6AP1 was added
gene: ATP6AP1 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: ATP6AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6AP1 were set to PMID: 27231034
Phenotypes for gene: ATP6AP1 were set to immunodeficiency-47 (MIM# 300972)
Penetrance for gene: ATP6AP1 were set to unknown
Review for gene: ATP6AP1 was set to GREEN
Added comment: PMID: 27231034
- 11 males from 6 families with defective glycosylation
Sources: Literature
Differences of Sex Development v0.72 DMRT1 Elena Savva gene: DMRT1 was added
gene: DMRT1 was added to Disorders of Sex Differentiation. Sources: Expert list
Mode of inheritance for gene: DMRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DMRT1 were set to PMID: 31479588; 24934491; 29527098
Phenotypes for gene: DMRT1 were set to Azoospermia
Review for gene: DMRT1 was set to RED
Added comment: PMID: 31479588 - 1 patient with azoospermia and XY genotype. Also carries an additional variant in KLHL10

PMID: 24934491 - 6 patients with male infertility, however the 4 identified variants were also found in 2 controls and have a high frequency in the population (gnomAD). No functional studies.

PMID: 23555275 - Identifies CNVs in azoospermia patients, calls the gene a risk factor
Sources: Expert list
Congenital Disorders of Glycosylation v0.57 ALG2 Ain Roesley reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: 12684507, 23404334, 24461433; Phenotypes: Congenital disorder of glycosylation, type Ii (MIM# 607906); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.72 DHCR24 Elena Savva reviewed gene: DHCR24: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9450875, 11519011; Phenotypes: Desmosterolosis 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.28 POLG2 Bryony Thompson Marked gene: POLG2 as ready
Gastrointestinal neuromuscular disease v0.28 POLG2 Bryony Thompson Gene: polg2 has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.28 POLG2 Bryony Thompson gene: POLG2 was added
gene: POLG2 was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLG2 were set to 21555342; 27775730
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131
Review for gene: POLG2 was set to RED
Added comment: 3 unrelated cases have been reported with gastrointestinal symptoms and 3 different heterozygous missense (L153V, R369G, S423Y). All 3 missense are too common in gnomAD v2.1 for a dominant disease and biochemical assays demonstrated normal function for all expect R369G variants had reduced stimulation of processivity and decreased affinity for the catalytic subunit.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2766 LHX3 Crystle Lee reviewed gene: LHX3: Rating: RED; Mode of pathogenicity: None; Publications: 28302169; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.72 CYB5A Elena Savva gene: CYB5A was added
gene: CYB5A was added to Disorders of Sex Differentiation. Sources: Expert list
Mode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5A were set to PMID: 22170710; 32051920
Phenotypes for gene: CYB5A were set to Methemoglobinemia and ambiguous genitalia 250790
Review for gene: CYB5A was set to GREEN
Added comment: PMID: 22170710 - 3 siblings with 46,XY DSD, sex steroid deficiency, female genitalia and a homozygous missense variant. Supported by LOF functional studies. Mineralocorticoids and glucocorticoids were normal.

PMID: 32051920 - 1 female with a homozygous missense, no DSD but methemoglobinemia. All female genitalia are normal and she has had a normal female child.
Paper reviews prior reports and notes an additional 2 unrelated homozygous reports of 46 XY DSD patients with normal Methemoglobin. All variants were rare/absent (gnomAD) and PTCs.
Sources: Expert list
Differences of Sex Development v0.72 LHX3 Crystle Lee reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302169, 17327381, 30262920; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.72 CUL4B Elena Savva gene: CUL4B was added
gene: CUL4B was added to Disorders of Sex Differentiation. Sources: Expert list
Mode of inheritance for gene: CUL4B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CUL4B were set to PMID: 25385192
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
Review for gene: CUL4B was set to GREEN
Added comment: PMID: 25385192 - 25 patients (11 families) with syndromic features including hypogonadism (85%) and gynecomastia (33%)
Sources: Expert list
Congenital Disorders of Glycosylation v0.57 TRAPPC11 Paul De Fazio changed review comment from: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list).

Biochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis.

Patients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340).

A patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579).

TRAPPC11-CDG has been suggested to be a "Novel CDG in ER to Golgi trafficking
" (PMID: 28484880)
Sources: Literature; to: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list).

Biochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis.

Patients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340).

A patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579).

TRAPPC11-CDG has been suggested to be a "Novel CDG in ER to Golgi trafficking" (PMID: 28484880)
Sources: Literature
Congenital Disorders of Glycosylation v0.57 TRAPPC11 Paul De Fazio gene: TRAPPC11 was added
gene: TRAPPC11 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108; 26912795; 27707803; 27862579; 28484880
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356
Review for gene: TRAPPC11 was set to GREEN
gene: TRAPPC11 was marked as current diagnostic
Added comment: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list).

Biochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis.

Patients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340).

A patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579).

TRAPPC11-CDG has been suggested to be a "Novel CDG in ER to Golgi trafficking
" (PMID: 28484880)
Sources: Literature
Differences of Sex Development v0.72 NR3C1 Zornitza Stark Marked gene: NR3C1 as ready
Differences of Sex Development v0.72 NR3C1 Zornitza Stark Gene: nr3c1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.72 NR3C1 Zornitza Stark Phenotypes for gene: NR3C1 were changed from to Glucocorticoid resistance (MIM#615962)
Differences of Sex Development v0.71 NR3C1 Zornitza Stark Publications for gene: NR3C1 were set to
Differences of Sex Development v0.70 NR3C1 Zornitza Stark Mode of inheritance for gene: NR3C1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.69 CBX2 Elena Savva reviewed gene: CBX2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 19361780, 31719618, 23219007; Phenotypes: ?46XY sex reversal 5 613080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.69 MCM5 Crystle Lee gene: MCM5 was added
gene: MCM5 was added to Disorders of Sex Differentiation. Sources: Expert Review
Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM5 were set to 28198391
Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 (MIM#617564)
Review for gene: MCM5 was set to RED
Added comment: Only single patient reported in 2017. Patient presented with microstomia, thick lips, micrognathia, bilateral microtia, low set ears and bilateral cryptorchidism.
Sources: Expert Review
Mendeliome v0.3331 MCM5 Crystle Lee gene: MCM5 was added
gene: MCM5 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM5 were set to 28198391
Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 (MIM#617564)
Review for gene: MCM5 was set to RED
Added comment: Compound heterozgyous variants reported in one patient. Insufficient evidence supporting gene disease association
Sources: Expert Review
Congenital Disorders of Glycosylation v0.57 XYLT2 Paul De Fazio edited their review of gene: XYLT2: Changed phenotypes: Spondyloocular syndrome MIM# 605822
Skeletal dysplasia v0.34 MCM5 Crystle Lee reviewed gene: MCM5: Rating: RED; Mode of pathogenicity: None; Publications: 28198391; Phenotypes: ?Meier-Gorlin syndrome 8 (MIM#617564); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 XYLT2 Paul De Fazio gene: XYLT2 was added
gene: XYLT2 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26027496; 26987875; 30891060; 28484880
Review for gene: XYLT2 was set to GREEN
gene: XYLT2 was marked as current diagnostic
Added comment: 5 unrelated individuals/families in total described with Spondylo-Ocular Syndrome (PMID: 26027496, 26987875, 30891060).

XYLT2-CDG has been referred to as a "proteoglycan ‘linker’ glycan disorder" (PMID: 28484880)
Sources: Literature
Differences of Sex Development v0.69 MKKS Crystle Lee reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: None; Publications: 10973251, 26900326, 10973238; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome (MIM#236700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 PIGW Dean Phelan changed review comment from: OMIM - Glycosylphosphatidylinositol biosynthesis defect 11, AR

Function - Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol

Clingen - no association with CGD

PMID: 24367057 - (2013) - A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW.

PMID: 27626616 - (2016) Two second-degree cousins with unexplained patterns of seizures. Next-generation sequencing identified the homozygous c.460A>G; p.(R154G) PIGW mutation in both patients. Transfection of the mutated allele into Pigw-defective CHO cells indicated impaired enzymatic activity of the mutated PIGW product. The patients' phenotype is remarkably different from the phenotype of the only other described individual with PIGW mutations.

PMID: 30813920 - (2019) A Chinese boy with compound heterozygous PIGW mutations who suffers from severe pneumonia, mental retardation, and epilepsy. A 70-day-old boy presented with fever and cough over 20 days in duration at the time of admission. At the age of 6 months, unusual facial features were apparent, and seizures were clinically observed, accompanied by obvious cognitive delay. Next-generation sequencing identified novel PIGW c.178G > A and c.462A > T mutations

PMID: 32198969 - (2020) A new patient with a novel homozygous missense variant in PIGW, who presented with hypotonia, severe intellectual disability, early-onset epileptic seizures, brain abnormalities, nystagmus, hand stereotypies, recurrent respiratory infections, distinctive facial features, and hyperphosphatasia. Our report expands the phenotype of GPI biosynthesis defect 11 to include stereotypies and recurrent respiratory infections.; to: OMIM - Glycosylphosphatidylinositol biosynthesis defect 11, AR

Function - Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol

Clingen - no association with CGD

PMID: 24367057 - (2013) - A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW.

PMID: 27626616 - (2016) Two second-degree cousins with unexplained patterns of seizures. Next-generation sequencing identified the homozygous c.460A>G; p.(R154G) PIGW mutation in both patients. Transfection of the mutated allele into Pigw-defective CHO cells indicated impaired enzymatic activity of the mutated PIGW product. The patients' phenotype is remarkably different from the phenotype of the only other described individual with PIGW mutations.

PMID: 30813920 - (2019) A Chinese boy with compound heterozygous PIGW mutations who suffers from severe pneumonia, mental retardation, and epilepsy. A 70-day-old boy presented with fever and cough over 20 days in duration at the time of admission. At the age of 6 months, unusual facial features were apparent, and seizures were clinically observed, accompanied by obvious cognitive delay. Next-generation sequencing identified novel PIGW c.178G > A and c.462A > T mutations

PMID: 32198969 - (2020) A new patient with a novel homozygous missense variant in PIGW, who presented with hypotonia, severe intellectual disability, early-onset epileptic seizures, brain abnormalities, nystagmus, hand stereotypies, recurrent respiratory infections, distinctive facial features, and hyperphosphatasia. Our report expands the phenotype of GPI biosynthesis defect 11 to include stereotypies and recurrent respiratory infections.

Summary - Multiple unrelated families reported with different recessive variants either homozygous or compound heterozygous. Functional studies showed impaired enzymatic activity
Congenital Disorders of Glycosylation v0.57 PIGW Dean Phelan reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24367057, 27626616, 30813920, 32198969; Phenotypes: intractable seizures, West syndrome, severe developmental delay, dysmorphic facial features, hyperphosphatasia, epilepsy, recurrent respiratory infections, hypotonia, stereotypies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3331 ATF3 Elena Savva reviewed gene: ATF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Differences of Sex Development v0.69 ATF3 Elena Savva reviewed gene: ATF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Bardet Biedl syndrome v0.28 MKKS Crystle Lee reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973251; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 PIGM Dean Phelan reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31445883, 16767100; Phenotypes: portal vein thrombosis, persistent absence seizures, macrocephaly, infantile-onset cerebrovascular thrombotic events; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.69 NR3C1 Crystle Lee reviewed gene: NR3C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30158362; Phenotypes: Glucocorticoid resistance (MIM#615962); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital Disorders of Glycosylation v0.57 ALG13 Ain Roesley reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: None; Publications: 22492991, 28887793, 26138355; Phenotypes: Congenital disorder of glycosylation, type Is (MIM# 300884); 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 v0.2766 ATL1 Zornitza Stark Marked gene: ATL1 as ready
Intellectual disability syndromic and non-syndromic v0.2766 ATL1 Zornitza Stark Gene: atl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2766 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from to Neuropathy, hereditary sensory, type ID, MIM# 613708; Spastic paraplegia 3A, autosomal dominant, MIM# 182600
Intellectual disability syndromic and non-syndromic v0.2765 ATL1 Zornitza Stark Publications for gene: ATL1 were set to
Intellectual disability syndromic and non-syndromic v0.2764 ATL1 Zornitza Stark Mode of inheritance for gene: ATL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2763 ATL1 Zornitza Stark Classified gene: ATL1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2763 ATL1 Zornitza Stark Gene: atl1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2762 ATL1 Zornitza Stark reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: None; Publications: 21336785, 28736820, 29180453, 29691679, 31236401; Phenotypes: Neuropathy, hereditary sensory, type ID, MIM# 613708, Spastic paraplegia 3A, autosomal dominant, MIM# 182600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3331 CNPY3 Zornitza Stark Marked gene: CNPY3 as ready
Mendeliome v0.3331 CNPY3 Zornitza Stark Gene: cnpy3 has been classified as Green List (High Evidence).
Mendeliome v0.3331 CNPY3 Zornitza Stark Phenotypes for gene: CNPY3 were changed from to Epileptic encephalopathy, early infantile, 60 (MIM 617929)
Mendeliome v0.3330 CNPY3 Zornitza Stark Publications for gene: CNPY3 were set to
Mendeliome v0.3329 CNPY3 Zornitza Stark Mode of inheritance for gene: CNPY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3328 CNPY3 Zornitza Stark reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29394991, 30237576; Phenotypes: Epileptic encephalopathy, early infantile, 60 (MIM 617929); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2762 CNPY3 Zornitza Stark Marked gene: CNPY3 as ready
Intellectual disability syndromic and non-syndromic v0.2762 CNPY3 Zornitza Stark Gene: cnpy3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2762 CNPY3 Zornitza Stark Classified gene: CNPY3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2762 CNPY3 Zornitza Stark Gene: cnpy3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.752 CNPY3 Zornitza Stark Marked gene: CNPY3 as ready
Genetic Epilepsy v0.752 CNPY3 Zornitza Stark Gene: cnpy3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.752 CNPY3 Zornitza Stark Phenotypes for gene: CNPY3 were changed from to Epileptic encephalopathy, early infantile, 60 (MIM 617929)
Genetic Epilepsy v0.751 CNPY3 Zornitza Stark Publications for gene: CNPY3 were set to
Genetic Epilepsy v0.750 CNPY3 Zornitza Stark Mode of inheritance for gene: CNPY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3328 KIF21B Zornitza Stark Marked gene: KIF21B as ready
Mendeliome v0.3328 KIF21B Zornitza Stark Gene: kif21b has been classified as Green List (High Evidence).
Mendeliome v0.3328 KIF21B Zornitza Stark Classified gene: KIF21B as Green List (high evidence)
Mendeliome v0.3328 KIF21B Zornitza Stark Gene: kif21b has been classified as Green List (High Evidence).
Mendeliome v0.3327 KIF21B Zornitza Stark gene: KIF21B was added
gene: KIF21B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21B were set to 32415109
Phenotypes for gene: KIF21B were set to Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly
Mode of pathogenicity for gene: KIF21B 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: KIF21B was set to GREEN
Added comment: Asselin et al (2020 - PMID: 32415109) report on 4 individuals with KIF21B pathogenic variants. DD/ID (borderline intellectual functioning to severe ID) was a feature in all. Variable other findings included brain malformations (CCA) and microcephaly. 3 missense variants and a 4-bp insertion were identified, in 3 cases as de novo events while in a single subject the variant was inherited from the father who was also affected. The authors provide evidence for a role of KIF21B in the regulation of processes involved in cortical development and deleterious effect of the missense variants impeding neuronal migration and kinesin autoinhibition. Phenotypes specific to variants (e.g. CCA or microcephaly) were recapitulated in animal models. Missense variants are thought to exert a gain-of-function effect. As commented on, the 4-bp duplication (/frameshift) variant might not be pathogenic. In blood sample from the respective individual, RT-qPCR analysis suggested that haploinsufficiency (NMD) applies. Although Kif21b haploinsufficiency in mice was shown to lead to impaired neuronal positioning, the gene might partially tolerate LoF variants as also suggested by 28 such variants in gnomAD. Homozygous Kif21b ko mice display severe morphological abnormalities, partial loss of commissural fibers, cognitive deficits and altered synaptic transmission (several refs to previous studies provided by the authors).
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2761 KIF21B Zornitza Stark Marked gene: KIF21B as ready
Intellectual disability syndromic and non-syndromic v0.2761 KIF21B Zornitza Stark Gene: kif21b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2761 KIF21B Zornitza Stark Classified gene: KIF21B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2761 KIF21B Zornitza Stark Gene: kif21b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2760 PAX1 Zornitza Stark Marked gene: PAX1 as ready
Intellectual disability syndromic and non-syndromic v0.2760 PAX1 Zornitza Stark Gene: pax1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2760 PAX1 Zornitza Stark Classified gene: PAX1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2760 PAX1 Zornitza Stark Gene: pax1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2760 PAX1 Zornitza Stark Classified gene: PAX1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2760 PAX1 Zornitza Stark Gene: pax1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2759 TMEM106B Zornitza Stark Marked gene: TMEM106B as ready
Intellectual disability syndromic and non-syndromic v0.2759 TMEM106B Zornitza Stark Gene: tmem106b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2759 TMEM106B Zornitza Stark Classified gene: TMEM106B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2759 TMEM106B Zornitza Stark Gene: tmem106b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.749 TMEM106B Zornitza Stark Marked gene: TMEM106B as ready
Genetic Epilepsy v0.749 TMEM106B Zornitza Stark Gene: tmem106b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.749 TMEM106B Zornitza Stark Classified gene: TMEM106B as Amber List (moderate evidence)
Genetic Epilepsy v0.749 TMEM106B Zornitza Stark Gene: tmem106b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3326 TBC1D2B Zornitza Stark Marked gene: TBC1D2B as ready
Mendeliome v0.3326 TBC1D2B Zornitza Stark Gene: tbc1d2b has been classified as Green List (High Evidence).
Mendeliome v0.3326 TBC1D2B Zornitza Stark Classified gene: TBC1D2B as Green List (high evidence)
Mendeliome v0.3326 TBC1D2B Zornitza Stark Gene: tbc1d2b has been classified as Green List (High Evidence).
Mendeliome v0.3325 TBC1D2B Zornitza Stark gene: TBC1D2B was added
gene: TBC1D2B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TBC1D2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D2B were set to 32623794
Phenotypes for gene: TBC1D2B were set to Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality
Review for gene: TBC1D2B was set to GREEN
Added comment: Harms et al (2020 - PMID: 32623794) report on 3 unrelated individuals with biallelic pLoF TBC1D2B variants. Features included cognitive impairment (mild ID in one case, regression at the age of 12y in another, hypotonia and delayed milestones in a third aged 8m), seizures (3/3 - variable age of onset) and/or gingival overgrowth (2/3 - prior to initiation of AEDs). Other findings included behavioral abnormalities, mandibular anomalies, abnormal brain imaging and ophthalmologic or (rarely) audiometric evaluations. All were born to non-consanguineous couples and additional investigations were performed in some. Variants were identified by WES or trio WGS, with Sanger confirmation/compatible segregation analyses. In line with the pLoF variants, mRNA studies in fibroblasts from 2 unrelated affected individuals demonstrated significantly reduced (~80-90%) TBC1C2D mRNA levels compared to controls, restored following cycloheximide treatment. Protein was absent in patient fibroblasts. TBC-domain containing GTPase activating proteins are known as key regulators of RAB GTPase activity. TBC1D2B was shown to colocalize with RAB5-positive endocytic vesicles. CRISPR/Cas9-mediated ko of TBC1D2B in HeLa cells suggested a role in EGF receptor endocytosis and decreased cell viability of TBC1D2B-deficient HeLa cells upon serum deprivation. Genes encoding other TBC domain-containg GTPase-activating proteins, e.g. TBC1D7 and TBC1D20, TBC1D24 are associated with recessive neurodevelopmental disorders (with ID and/or seizures) and the pathophysiological defect in TBC1D2B-related disorder (deficit in vesicle trafficking and/or cell survival) is proposed to be similar to that of TBC1D24.
Sources: Expert Review
Genetic Epilepsy v0.748 TBC1D2B Zornitza Stark Classified gene: TBC1D2B as Green List (high evidence)
Genetic Epilepsy v0.748 TBC1D2B Zornitza Stark Gene: tbc1d2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2758 TBC1D2B Zornitza Stark Marked gene: TBC1D2B as ready
Intellectual disability syndromic and non-syndromic v0.2758 TBC1D2B Zornitza Stark Gene: tbc1d2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2758 TBC1D2B Zornitza Stark Classified gene: TBC1D2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2758 TBC1D2B Zornitza Stark Gene: tbc1d2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3324 EXOC2 Zornitza Stark Marked gene: EXOC2 as ready
Mendeliome v0.3324 EXOC2 Zornitza Stark Gene: exoc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3324 EXOC2 Zornitza Stark Classified gene: EXOC2 as Amber List (moderate evidence)
Mendeliome v0.3324 EXOC2 Zornitza Stark Gene: exoc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3323 EXOC2 Zornitza Stark gene: EXOC2 was added
gene: EXOC2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: EXOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC2 were set to 32639540
Phenotypes for gene: EXOC2 were set to Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology
Review for gene: EXOC2 was set to AMBER
Added comment: Van Bergen et al (2020 - PMID: 32639540) report on 3 individuals from 2 families, harboring biallelic EXOC2 mutations. Clinical presentation included DD, ID (severe in 2 subjects from fam1, borderline intellectual functioning in fam2), dysmorphic features and brain abnormalities. Cerebellar anomalies were common to all with a molar tooth sign observed in one (1/3). Other findings limited to subjects from one family included acquired microcephaly, congenital contractures, spastic quadriplegia (each observed 2/3). Previous investigations were in all cases non-diagnostic. WES identified biallelic EXOC2 mutations in all affected individuals. EXOC2 encodes an exocyst subunit. The latter is an octameric complex, component of the membrane transport machinery, required for tethering and fusion of vesicles at the plasma membrane. As discussed ,vesicle transport is important for the development of brain and the function of neurons and glia. Exocyst function is also important for delivery of Arl13b to the primary cilium (biallelic ARL13B mutations cause Joubert syndrome 8) and ciliogenesis. Affected subjects from a broader consanguineous family (fam1) were homozygous for a truncating variant. Fibroblast studies revealed mRNA levels compatible with NMD (further restored in presence of CHX) as well as reduced protein levels. The female belonging to the second non-consanguineous family was found to harbor 2 missense variants in trans configuration. An exocytosis defect was demonstrated in fibroblasts from individuals belonging to both families. Ciliogenesis appeared to be normal, however Arl13b localization/recruitment to the cilia was reduced compared with control cells with the defect rescued upon exogenous expression of wt EXOC2. Mutations in other genes encoding components of the exocyst complex have been previously reported in individuals with relevant phenotypes (e.g. EXOC8 in a boy with features of Joubert s. or EXOC4 in nephrotic syndrome). The authors discuss on the essential role of EXOC2 based on model organism studies (e.g. impaired neuronal membrane traffic, failure of neuronal polarization and neuromuscular junction expansion seen in Drosophila Sec5 (EXOC2) null mutants).
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2757 EXOC2 Zornitza Stark Marked gene: EXOC2 as ready
Intellectual disability syndromic and non-syndromic v0.2757 EXOC2 Zornitza Stark Gene: exoc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2757 EXOC2 Zornitza Stark Classified gene: EXOC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2757 EXOC2 Zornitza Stark Gene: exoc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2756 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Intellectual disability syndromic and non-syndromic v0.2756 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2756 CEP120 Zornitza Stark Classified gene: CEP120 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2756 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Mendeliome v0.3322 CCDC174 Zornitza Stark Marked gene: CCDC174 as ready
Mendeliome v0.3322 CCDC174 Zornitza Stark Gene: ccdc174 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3322 CCDC174 Zornitza Stark Classified gene: CCDC174 as Amber List (moderate evidence)
Mendeliome v0.3322 CCDC174 Zornitza Stark Gene: ccdc174 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3321 CCDC174 Zornitza Stark gene: CCDC174 was added
gene: CCDC174 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CCDC174 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC174 were set to 26358778
Phenotypes for gene: CCDC174 were set to Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816
Review for gene: CCDC174 was set to AMBER
Added comment: Biallelic pathogenic CCDC174 variants cause Hypotonia, infantile, with psychomotor retardation - IHPMR (MIM 616816). Volodarsky et al [2015 - PMID: 26358778] describe 6 children from 2 unrelated families with - among others - severe hypotonia, psychomotor delay and abducens nerve palsy. All affected subjects were homozygous for a stoploss variant. Evidence from functional studies/animal model is provided supporting the role of the gene in this phenotype. Overall this gene can be considered for inclusion in the ID panel with amber rating (2 families, single founder variant, consistent phenotype, supportive studies) pending further reports.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2755 CCDC174 Zornitza Stark Marked gene: CCDC174 as ready
Intellectual disability syndromic and non-syndromic v0.2755 CCDC174 Zornitza Stark Gene: ccdc174 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2755 CCDC174 Zornitza Stark Classified gene: CCDC174 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2755 CCDC174 Zornitza Stark Gene: ccdc174 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3320 ACOX2 Zornitza Stark Classified gene: ACOX2 as Green List (high evidence)
Mendeliome v0.3320 ACOX2 Zornitza Stark Gene: acox2 has been classified as Green List (High Evidence).
Mendeliome v0.3319 ACOX2 Zornitza Stark edited their review of gene: ACOX2: Added comment: Third family reported.; Changed rating: GREEN; Changed publications: 27647924, 27884763, 29287774
Peroxisomal Disorders v0.4 ACOX2 Zornitza Stark Publications for gene: ACOX2 were set to 27647924; 27884763
Peroxisomal Disorders v0.3 ACOX2 Zornitza Stark Classified gene: ACOX2 as Green List (high evidence)
Peroxisomal Disorders v0.3 ACOX2 Zornitza Stark Gene: acox2 has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark edited their review of gene: ACOX2: Added comment: Third family reported.; Changed rating: GREEN; Changed publications: 29287774; Changed phenotypes: Bile acid synthesis defect, congenital, 6, 617308; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2754 ACOX2 Zornitza Stark Marked gene: ACOX2 as ready
Intellectual disability syndromic and non-syndromic v0.2754 ACOX2 Zornitza Stark Gene: acox2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2754 ACOX2 Zornitza Stark Classified gene: ACOX2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2754 ACOX2 Zornitza Stark Gene: acox2 has been classified as Red List (Low Evidence).
Mendeliome v0.3319 ABCA2 Zornitza Stark Marked gene: ABCA2 as ready
Mendeliome v0.3319 ABCA2 Zornitza Stark Gene: abca2 has been classified as Green List (High Evidence).
Mendeliome v0.3319 ABCA2 Zornitza Stark Classified gene: ABCA2 as Green List (high evidence)
Mendeliome v0.3319 ABCA2 Zornitza Stark Gene: abca2 has been classified as Green List (High Evidence).
Mendeliome v0.3318 ABCA2 Zornitza Stark gene: ABCA2 was added
gene: ABCA2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA2 were set to 30237576; 29302074; 31047799
Phenotypes for gene: ABCA2 were set to Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808
Review for gene: ABCA2 was set to GREEN
Added comment: Biallelic pathogenic ABCA2 variants cause Intellectual developmental disorder with poor growth and with or without seizures or ataxia (MIM 618808). There are 3 relevant publications (01-07-2020) : - Maddirevula et al [2019 - PMID: 30237576] described briefly 2 unrelated subjects (16-2987, 16DG0071) both DD and seizures among other manifestations. - Hu et al [2019 - PMID: 29302074] reported 3 sibs (M8600615 - III:1-3) born to consanguineous parents (M8600615 - III:1-3) with DD/ID (formal confirmation of moderate ID, in those (2) evaluated). One also presented with seizures. - Aslam and Naz [2019 - PMID: 31047799] provided clinical details on 2 siblings born to consanguineous parents. ID was reported for the older sib but was absent in the younger one. Seizures were not part of the phenotype. All subjects harbored biallelic pLoF variants. N.B. : Steinberg et al [2015 - PMID: 25773295], within a cohort of patients with ALS, identified one with biallelic ABCA2 variants. As however Aslam and Naz comment, this person harbored a single pathogenic variant, with a second one rather unlikely to be pathogenic due to high allele frequency. Overall this gene can be considered for inclusion with green rating in both ID and epilepsy panels (each in >=3 unrelated individuals).
Sources: Expert Review
Genetic Epilepsy v0.747 ABCA2 Zornitza Stark Marked gene: ABCA2 as ready
Genetic Epilepsy v0.747 ABCA2 Zornitza Stark Gene: abca2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.747 ABCA2 Zornitza Stark Classified gene: ABCA2 as Green List (high evidence)
Genetic Epilepsy v0.747 ABCA2 Zornitza Stark Gene: abca2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2753 ABCA2 Zornitza Stark Marked gene: ABCA2 as ready
Intellectual disability syndromic and non-syndromic v0.2753 ABCA2 Zornitza Stark Gene: abca2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2753 ABCA2 Zornitza Stark Classified gene: ABCA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2753 ABCA2 Zornitza Stark Gene: abca2 has been classified as Green List (High Evidence).
Autism v0.103 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Autism v0.103 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Autism v0.103 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38 (MIM 615516)
Autism v0.102 HERC2 Zornitza Stark Publications for gene: HERC2 were set to
Autism v0.101 HERC2 Zornitza Stark Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.100 HERC2 Zornitza Stark reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23065719, 23243086, 30902390, 32571899, 27848944, 26077850, 27759030; Phenotypes: Mental retardation, autosomal recessive 38 (MIM 615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.11 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Angelman Rett like syndromes v0.11 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.11 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38 (MIM 615516)
Angelman Rett like syndromes v0.10 HERC2 Zornitza Stark Publications for gene: HERC2 were set to
Angelman Rett like syndromes v0.9 HERC2 Zornitza Stark Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.8 HERC2 Zornitza Stark reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23065719, 23243086, 30902390, 32571899, 27848944, 26077850, 27759030; Phenotypes: Mental retardation, autosomal recessive 38 (MIM 615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3317 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Mendeliome v0.3317 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Mendeliome v0.3317 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38 (MIM 615516)
Mendeliome v0.3316 HERC2 Zornitza Stark Publications for gene: HERC2 were set to
Mendeliome v0.3315 HERC2 Zornitza Stark Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3314 HERC2 Zornitza Stark reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23065719, 23243086, 30902390, 32571899, 27848944, 26077850, 27759030; Phenotypes: Mental retardation, autosomal recessive 38 (MIM 615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.746 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Genetic Epilepsy v0.746 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.746 HERC2 Zornitza Stark Classified gene: HERC2 as Green List (high evidence)
Genetic Epilepsy v0.746 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2752 HERC2 Zornitza Stark Publications for gene: HERC2 were set to 23243086; 23065719
Intellectual disability syndromic and non-syndromic v0.2751 HERC2 Zornitza Stark Classified gene: HERC2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2751 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Mendeliome v0.3314 ALOX12 Zornitza Stark Marked gene: ALOX12 as ready
Mendeliome v0.3314 ALOX12 Zornitza Stark Gene: alox12 has been classified as Red List (Low Evidence).
Mendeliome v0.3314 ALOX12 Zornitza Stark Classified gene: ALOX12 as Red List (low evidence)
Mendeliome v0.3314 ALOX12 Zornitza Stark Gene: alox12 has been classified as Red List (Low Evidence).
Mendeliome v0.3313 ALOX12 Zornitza Stark reviewed gene: ALOX12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3313 ETF1 Zornitza Stark Marked gene: ETF1 as ready
Mendeliome v0.3313 ETF1 Zornitza Stark Gene: etf1 has been classified as Red List (Low Evidence).
Mendeliome v0.3313 ETF1 Zornitza Stark Classified gene: ETF1 as Red List (low evidence)
Mendeliome v0.3313 ETF1 Zornitza Stark Gene: etf1 has been classified as Red List (Low Evidence).
Mendeliome v0.3312 ETF1 Zornitza Stark reviewed gene: ETF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2750 TTI1 Zornitza Stark commented on gene: TTI1: Two unrelated consanguineous families previously described with homozygous missense variants, both in large cohort papers with multiple candidate genes in inbred population. No functional evidence provided, segregation uninformative.
Mendeliome v0.3312 TTI1 Zornitza Stark Phenotypes for gene: TTI1 were changed from to Intellectual disability
Mendeliome v0.3311 TTI1 Zornitza Stark Publications for gene: TTI1 were set to
Mendeliome v0.3310 TTI1 Zornitza Stark Mode of inheritance for gene: TTI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2750 CNPY3 Konstantinos Varvagiannis gene: CNPY3 was added
gene: CNPY3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CNPY3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNPY3 were set to 29394991; 30237576
Phenotypes for gene: CNPY3 were set to Epileptic encephalopathy, early infantile, 60 (MIM 617929)
Penetrance for gene: CNPY3 were set to Complete
Review for gene: CNPY3 was set to GREEN
Added comment: Biallelic CNPY3 mutations cause Epileptic encephalopathy, early infantile, 60 (MIM 617929).

The phenotype including among others hypotonia, intractable seizures, DD and ID has been first reported by Mutoh et al (2018 - PMID: 29394991) in 3 subjects from 2 families. Evidence was provided for the role of the gene (incl. mouse model) and pathogenicity of the identified variants (resulting in LoF).

Another subject with similar features of hypotonia, DD, intractable epilepsy, feeding problems has been described briefly by Maddirevula et al (2019 - PMID: 30237576).
Sources: Literature
Genetic Epilepsy v0.745 CNPY3 Konstantinos Varvagiannis reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29394991, 30237576; Phenotypes: Epileptic encephalopathy, early infantile, 60 (MIM 617929); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2750 KIF21B Konstantinos Varvagiannis gene: KIF21B was added
gene: KIF21B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF21B were set to 32415109
Phenotypes for gene: KIF21B were set to Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly
Penetrance for gene: KIF21B were set to unknown
Mode of pathogenicity for gene: KIF21B 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: KIF21B was set to GREEN
Added comment: Asselin et al (2020 - PMID: 32415109) report on 4 individuals with KIF21B pathogenic variants. DD/ID (borderline intellectual functioning to severe ID) was a feature in all. Variable other findings included brain malformations (CCA) and microcephaly. 3 missense variants and a 4-bp insertion were identified, in 3 cases as de novo events while in a single subject the variant was inherited from the father who was also affected. The authors provide evidence for a role of KIF21B in the regulation of processes involved in cortical development and deleterious effect of the missense variants impeding neuronal migration and kinesin autoinhibition. Phenotypes specific to variants (e.g. CCA or microcephaly) were recapitulated in animal models. Missense variants are thought to exert a gain-of-function effect. As commented on, the 4-bp duplication (/frameshift) variant might not be pathogenic. In blood sample from the respective individual, RT-qPCR analysis suggested that haploinsufficiency (NMD) applies. Although Kif21b haploinsufficiency in mice was shown to lead to impaired neuronal positioning, the gene might partially tolerate LoF variants as also suggested by 28 such variants in gnomAD. Homozygous Kif21b ko mice display severe morphological abnormalities, partial loss of commissural fibers, cognitive deficits and altered synaptic transmission (several refs to previous studies provided by the authors).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2750 PAX1 Konstantinos Varvagiannis gene: PAX1 was added
gene: PAX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 29681087; 23851939; 28657137
Phenotypes for gene: PAX1 were set to Otofaciocervical syndrome 2, 615560
Penetrance for gene: PAX1 were set to Complete
Review for gene: PAX1 was set to AMBER
Added comment: Biallelic PAX1 pathogenic variants cause Otofaciocervical syndrome 2 (OMIM 615560).

Brief review of the literature suggests 3 relevant publications to date (04-07-2020).

2 individuals with DD and ID have been reported (Patil et al, 2018 - PMID: 29681087 and Pohl et al, 2013 - PMID: 23851939). Other subjects reported were only evaluated as newborns(mostly)/infants [Paganini et al, 2017 - PMID: 28657137, Patil et al, 2018 - PMID: 29681087].

While the first report by Pohl et al identified a homozygous missense variant supported by functional studies [NM_006192.5:c.497G>T - p.(Gly166Val)] subsequent ones identified homozygosity for pLoF mutations [Patil et al: NM_006192.4:c.1173_1174insGCCCG / Paganini et al: NM_006192:c.1104C>A - p.(Cys368*)].

As discussed by Pohl et al:

PAX1 encodes a transcription factor with critical role in pattern formation during embryogenesis. Study of the mouse Gly157Val (equivalent to human Gly166Val) Pax1 variant suggested reduced binding affinity (reduced transactivation of a regulatory sequence of the Nkx3-2 promoter) and hypofunctional nature of this variant.

Mouse models seem to recapitulate features of the disorder (skeletal, immunodeficiency) while the role of Pax1 in hearing process was thought to be supported by early expression (P6) in mouse cochlea.

Overall this gene can be considered for inclusion in the ID panel with amber/green rating.
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability syndromic and non-syndromic v0.2750 TMEM106B Konstantinos Varvagiannis gene: TMEM106B was added
gene: TMEM106B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM106B were set to 29186371; 29444210; 32595021
Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating, 16 (MIM #617964)
Penetrance for gene: TMEM106B were set to Complete
Mode of pathogenicity for gene: TMEM106B 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: TMEM106B was set to GREEN
Added comment: 6 unrelated individuals with Leukodystrophy, hypomyelinating, 16 (MIM #617964) due to a recurrent TMEM106B variant have been reported to date in the literature (Simons et al 2017 - PMID: 29186371, Yan et al 2018 - PMID: 29444210, Ikemoto et al 2020 - PMID: 32595021).

While a 3 y.o. female described by Yan et al had DD (eg sitting at 9m, walking at 25m) with normal cognitive functioning, and a 38 y.o. female had borderline intellectual functioning (IQ 76), 4 affected individuals had ID. Among them, a 19 y.o. male with severe ID was also found to harbor a second de novo possibly damaging USP7 variant. Seizures have been reported in 2 unrelated subjects. [Clinical features are also summarized in table 1 - Ikemoto et al].

All harbored NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) which in almost all cases occurred as a de novo event. In a single case this variant was inherited from a mosaic parent with mild DD in infancy but normal cognition (reported by Simons et al).

As discussed by Ito et al (2018 - PMID: 30643851) the encoded protein is a structural component of the lysosomal membrane, playing a role on lysosome acidification. Acidity of the lysosome mediates multiple aspects of lysosomal function. Ito et al, using patient-derived fibroblasts assessed mRNA and protein levels. These were unaltered compared with controls. While TMEM106B had been previously shown to affect lysosome number, morphology and acidification, Ito et al demonstrated increased number of lysosomes in patient cells as well as impaired acidification compared to controls. As commented lysosomes are required for generation of myelin.

Recurrence of this missense variant, the presence of pLoF TMEM106B variants in gnomAD as well as the phenotypically normal Tmem106b null mice suggest that this variant may have a gain-of-function or dominant negative effect.

Genes for other forms of hypomyelinating lipodystrophy (incl. PLP1) have green rating in the ID panel.

Overall TMEM106B can be considered for the ID panel with green rating and the epilepsy panel with amber rating.
Sources: Literature
Genetic Epilepsy v0.745 TMEM106B Konstantinos Varvagiannis gene: TMEM106B was added
gene: TMEM106B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM106B were set to 29186371; 29444210; 32595021
Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating, 16 (MIM #617964)
Penetrance for gene: TMEM106B were set to Complete
Mode of pathogenicity for gene: TMEM106B 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: TMEM106B was set to AMBER
Added comment: 6 unrelated individuals with Leukodystrophy, hypomyelinating, 16 (MIM #617964) due to a recurrent TMEM106B variant have been reported to date in the literature (Simons et al 2017 - PMID: 29186371, Yan et al 2018 - PMID: 29444210, Ikemoto et al 2020 - PMID: 32595021).

While a 3 y.o. female described by Yan et al had DD (eg sitting at 9m, walking at 25m) with normal cognitive functioning, and a 38 y.o. female had borderline intellectual functioning (IQ 76), 4 affected individuals had ID. Among them, a 19 y.o. male with severe ID was also found to harbor a second de novo possibly damaging USP7 variant. Seizures have been reported in 2 unrelated subjects. [Clinical features are also summarized in table 1 - Ikemoto et al].

All harbored NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) which in almost all cases occurred as a de novo event. In a single case this variant was inherited from a mosaic parent with mild DD in infancy but normal cognition (reported by Simons et al).

As discussed by Ito et al (2018 - PMID: 30643851) the encoded protein is a structural component of the lysosomal membrane, playing a role on lysosome acidification. Acidity of the lysosome mediates multiple aspects of lysosomal function. Ito et al, using patient-derived fibroblasts assessed mRNA and protein levels. These were unaltered compared with controls. While TMEM106B had been previously shown to affect lysosome number, morphology and acidification, Ito et al demonstrated increased number of lysosomes in patient cells as well as impaired acidification compared to controls. As commented lysosomes are required for generation of myelin.

Recurrence of this missense variant, the presence of pLoF TMEM106B variants in gnomAD as well as the phenotypically normal Tmem106b null mice suggest that this variant may have a gain-of-function or dominant negative effect.

Genes for other forms of hypomyelinating lipodystrophy (incl. PLP1) have green rating in the ID panel.

Overall TMEM106B can be considered for the ID panel with green rating and the epilepsy panel with amber rating.
Sources: Literature
Genetic Epilepsy v0.745 TBC1D2B Konstantinos Varvagiannis gene: TBC1D2B was added
gene: TBC1D2B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TBC1D2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D2B were set to 32623794
Phenotypes for gene: TBC1D2B were set to Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality
Penetrance for gene: TBC1D2B were set to Complete
Review for gene: TBC1D2B was set to GREEN
Added comment: Harms et al (2020 - PMID: 32623794) report on 3 unrelated individuals with biallelic pLoF TBC1D2B variants.

Features included cognitive impairment (mild ID in one case, regression at the age of 12y in another, hypotonia and delayed milestones in a third aged 8m), seizures (3/3 - variable age of onset) and/or gingival overgrowth (2/3 - prior to initiation of AEDs). Other findings included behavioral abnormalities, mandibular anomalies, abnormal brain imaging and ophthalmologic or (rarely) audiometric evaluations.

All were born to non-consanguineous couples and additional investigations were performed in some.

Variants were identified by WES or trio WGS, with Sanger confirmation/compatible segregation analyses.

In line with the pLoF variants, mRNA studies in fibroblasts from 2 unrelated affected individuals demonstrated significantly reduced (~80-90%) TBC1C2D mRNA levels compared to controls, restored following cycloheximide treatment. Protein was absent in patient fibroblasts.

TBC-domain containing GTPase activating proteins are known as key regulators of RAB GTPase activity. TBC1D2B was shown to colocalize with RAB5-positive endocytic vesicles. CRISPR/Cas9-mediated ko of TBC1D2B in HeLa cells suggested a role in EGF receptor endocytosis and decreased cell viability of TBC1D2B-deficient HeLa cells upon serum deprivation.

Genes encoding other TBC domain-containg GTPase-activating proteins, e.g. TBC1D7 and TBC1D20, TBC1D24 are associated with recessive neurodevelopmental disorders (with ID and/or seizures) and the pathophysiological defect in TBC1D2B-related disorder (deficit in vesicle trafficking and/or cell survival) is proposed to be similar to that of TBC1D24.

Overall this gene can be considered for inclusion with amber/green rating in the ID panel and green in epilepsy panel.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2750 TBC1D2B Konstantinos Varvagiannis gene: TBC1D2B was added
gene: TBC1D2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TBC1D2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D2B were set to 32623794
Phenotypes for gene: TBC1D2B were set to Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality
Penetrance for gene: TBC1D2B were set to Complete
Review for gene: TBC1D2B was set to AMBER
Added comment: Harms et al (2020 - PMID: 32623794) report on 3 unrelated individuals with biallelic pLoF TBC1D2B variants.

Features included cognitive impairment (mild ID in one case, regression at the age of 12y in another, hypotonia and delayed milestones in a third aged 8m), seizures (3/3 - variable age of onset) and/or gingival overgrowth (2/3 - prior to initiation of AEDs). Other findings included behavioral abnormalities, mandibular anomalies, abnormal brain imaging and ophthalmologic or (rarely) audiometric evaluations.

All were born to non-consanguineous couples and additional investigations were performed in some.

Variants were identified by WES or trio WGS, with Sanger confirmation/compatible segregation analyses.

In line with the pLoF variants, mRNA studies in fibroblasts from 2 unrelated affected individuals demonstrated significantly reduced (~80-90%) TBC1C2D mRNA levels compared to controls, restored following cycloheximide treatment. Protein was absent in patient fibroblasts.

TBC-domain containing GTPase activating proteins are known as key regulators of RAB GTPase activity. TBC1D2B was shown to colocalize with RAB5-positive endocytic vesicles. CRISPR/Cas9-mediated ko of TBC1D2B in HeLa cells suggested a role in EGF receptor endocytosis and decreased cell viability of TBC1D2B-deficient HeLa cells upon serum deprivation.

Genes encoding other TBC domain-containg GTPase-activating proteins, e.g. TBC1D7 and TBC1D20, TBC1D24 are associated with recessive neurodevelopmental disorders (with ID and/or seizures) and the pathophysiological defect in TBC1D2B-related disorder (deficit in vesicle trafficking and/or cell survival) is proposed to be similar to that of TBC1D24.

Overall this gene can be considered for inclusion with amber/green rating in the ID panel and green in epilepsy panel.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2750 EXOC2 Konstantinos Varvagiannis gene: EXOC2 was added
gene: EXOC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EXOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC2 were set to 32639540
Phenotypes for gene: EXOC2 were set to Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology
Penetrance for gene: EXOC2 were set to Complete
Review for gene: EXOC2 was set to AMBER
Added comment: Van Bergen et al (2020 - PMID: 32639540) report on 3 individuals from 2 families, harboring biallelic EXOC2 mutations.

Clinical presentation included DD, ID (severe in 2 subjects from fam1, borderline intellectual functioning in fam2), dysmorphic features and brain abnormalities. Cerebellar anomalies were common to all with a molar tooth sign observed in one (1/3). Other findings limited to subjects from one family included acquired microcephaly, congenital contractures, spastic quadriplegia (each observed 2/3).

Previous investigations were in all cases non-diagnostic. WES identified biallelic EXOC2 mutations in all affected individuals.

EXOC2 encodes an exocyst subunit. The latter is an octameric complex, component of the membrane transport machinery, required for tethering and fusion of vesicles at the plasma membrane. As discussed ,vesicle transport is important for the development of brain and the function of neurons and glia. Exocyst function is also important for delivery of Arl13b to the primary cilium (biallelic ARL13B mutations cause Joubert syndrome 8) and ciliogenesis.

Affected subjects from a broader consanguineous family (fam1) were homozygous for a truncating variant. Fibroblast studies revealed mRNA levels compatible with NMD (further restored in presence of CHX) as well as reduced protein levels. The female belonging to the second non-consanguineous family was found to harbor 2 missense variants in trans configuration.

An exocytosis defect was demonstrated in fibroblasts from individuals belonging to both families. Ciliogenesis appeared to be normal, however Arl13b localization/recruitment to the cilia was reduced compared with control cells with the defect rescued upon exogenous expression of wt EXOC2.

Mutations in other genes encoding components of the exocyst complex have been previously reported in individuals with relevant phenotypes (e.g. EXOC8 in a boy with features of Joubert s. or EXOC4 in nephrotic syndrome).

The authors discuss on the essential role of EXOC2 based on model organism studies (e.g. impaired neuronal membrane traffic, failure of neuronal polarization and neuromuscular junction expansion seen in Drosophila Sec5 (EXOC2) null mutants).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2750 CEP120 Konstantinos Varvagiannis gene: CEP120 was added
gene: CEP120 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to 27208211
Phenotypes for gene: CEP120 were set to Joubert syndrome 31 (MIM 617761); Short-rib thoracic dysplasia 13 with or without polydactyly (MIM 616300)
Penetrance for gene: CEP120 were set to Complete
Review for gene: CEP120 was set to GREEN
Added comment: Pathogenic CEP120 variants have been reported in recessive ciliopathies, namely Short-rib thoracic dysplasia 13 with or without polydactyly (MIM 616300) and Joubert syndrome 31 (MIM 617761).

The former is associated with a severe/lethal outcome (4 unrelated infants described by Shaheen et al 2015 - PMID: 25361962, 2 fetuses reported by Roosing et al 2016 - PMID: 27208211).

Roosing et al however, also provided details on 4 unrelated subjects with Joubert syndrome diagnosis. All presented with a neurologic phenotype of hypotonia, DD, cognitive impairment and exhibited a molar tooth sign.

As a result, this gene can be considered for inclusion in the ID panel with green rating (>3 individuals/variants, consistent ciliopathy phenotype).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2750 CCDC174 Konstantinos Varvagiannis gene: CCDC174 was added
gene: CCDC174 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CCDC174 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC174 were set to 26358778
Phenotypes for gene: CCDC174 were set to Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816
Penetrance for gene: CCDC174 were set to Complete
Mode of pathogenicity for gene: CCDC174 was set to Other
Review for gene: CCDC174 was set to AMBER
Added comment: Biallelic pathogenic CCDC174 variants cause Hypotonia, infantile, with psychomotor retardation - IHPMR (MIM 616816).

Volodarsky et al [2015 - PMID: 26358778] describe 6 children from 2 unrelated families with - among others - severe hypotonia, psychomotor delay and abducens nerve palsy. All affected subjects were homozygous for a stoploss variant. Evidence from functional studies/animal model is provided supporting the role of the gene in this phenotype.

Overall this gene can be considered for inclusion in the ID panel with amber rating (2 families, single founder variant, consistent phenotype, supportive studies) pending further reports.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2750 ACOX2 Konstantinos Varvagiannis gene: ACOX2 was added
gene: ACOX2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX2 were set to 27647924; 27884763; 29287774
Phenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6 - 617308
Penetrance for gene: ACOX2 were set to unknown
Review for gene: ACOX2 was set to RED
Added comment: Biallelic pathogenic ACOX2 variants cause Bile acid synthesis defect, congenital, 6 (MIM 617308). Overall the phenotype corresponds to an IEM/peroxisomal disorder.

As per 01-07-2020 there are 3 reports, briefly reviewed :

- Vilarinho et al [2016 - PMID: 27647924] provided details on an 8-year-old boy with ID.
- Monte et al [2017 - PMID: 27884763] described a 16 year old male with sustained elevation of transaminases *without* accompanying neurologic symptomatology (as they comment).
- Ferdinandusse et al [2018 - PMID: 29287774] reported on a girl deceased at the age of few months.

Please consider inclusion in the ID panel with amber/red rating pending further reports.
Sources: Literature
Genetic Epilepsy v0.745 ABCA2 Konstantinos Varvagiannis gene: ABCA2 was added
gene: ABCA2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA2 were set to 30237576; 29302074; 31047799
Phenotypes for gene: ABCA2 were set to Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808
Penetrance for gene: ABCA2 were set to Complete
Review for gene: ABCA2 was set to GREEN
Added comment: Biallelic pathogenic ABCA2 variants cause Intellectual developmental disorder with poor growth and with or without seizures or ataxia (MIM 618808).

There are 3 relevant publications (01-07-2020) :
- Maddirevula et al [2019 - PMID: 30237576] described briefly 2 unrelated subjects (16-2987, 16DG0071) both DD and seizures among other manifestations.
- Hu et al [2019 - PMID: 29302074] reported 3 sibs (M8600615 - III:1-3) born to consanguineous parents (M8600615 - III:1-3) with DD/ID (formal confirmation of moderate ID, in those (2) evaluated). One also presented with seizures.
- Aslam and Naz [2019 - PMID: 31047799] provided clinical details on 2 siblings born to consanguineous parents. ID was reported for the older sib but was absent in the younger one. Seizures were not part of the phenotype.

All subjects harbored biallelic pLoF variants.

N.B. : Steinberg et al [2015 - PMID: 25773295], within a cohort of patients with ALS, identified one with biallelic ABCA2 variants. As however Aslam and Naz comment, this person harbored a single pathogenic variant, with a second one rather unlikely to be pathogenic due to high allele frequency.

Overall this gene can be considered for inclusion with green rating in both ID and epilepsy panels (each in >=3 unrelated individuals).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2750 ABCA2 Konstantinos Varvagiannis gene: ABCA2 was added
gene: ABCA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA2 were set to 30237576; 29302074; 31047799
Phenotypes for gene: ABCA2 were set to Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808
Penetrance for gene: ABCA2 were set to Complete
Review for gene: ABCA2 was set to GREEN
Added comment: Biallelic pathogenic ABCA2 variants cause Intellectual developmental disorder with poor growth and with or without seizures or ataxia (MIM 618808).

There are 3 relevant publications (01-07-2020) :
- Maddirevula et al [2019 - PMID: 30237576] described briefly 2 unrelated subjects (16-2987, 16DG0071) both DD and seizures among other manifestations.
- Hu et al [2019 - PMID: 29302074] reported 3 sibs (M8600615 - III:1-3) born to consanguineous parents (M8600615 - III:1-3) with DD/ID (formal confirmation of moderate ID, in those (2) evaluated). One also presented with seizures.
- Aslam and Naz [2019 - PMID: 31047799] provided clinical details on 2 siblings born to consanguineous parents. ID was reported for the older sib but was absent in the younger one. Seizures were not part of the phenotype.

All subjects harbored biallelic pLoF variants.

N.B. : Steinberg et al [2015 - PMID: 25773295], within a cohort of patients with ALS, identified one with biallelic ABCA2 variants. As however Aslam and Naz comment, this person harbored a single pathogenic variant, with a second one rather unlikely to be pathogenic due to high allele frequency.

Overall this gene can be considered for inclusion with green rating in both ID and epilepsy panels (each in >=3 unrelated individuals).
Sources: Literature
Genetic Epilepsy v0.745 HERC2 Konstantinos Varvagiannis gene: HERC2 was added
gene: HERC2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC2 were set to 23065719; 23243086; 30902390; 32571899; 27848944; 26077850; 27759030
Phenotypes for gene: HERC2 were set to Mental retardation, autosomal recessive 38 (MIM 615516)
Penetrance for gene: HERC2 were set to Complete
Review for gene: HERC2 was set to GREEN
Added comment: Biallelic pathogenic HERC2 variants cause Mental retardation, autosomal recessive 38 (MIM 615516).

The current review is based mostly on the information provided by Elpidorou et al (2020 - PMID: 32571899) summarizing the findings in several affected individuals as published in the literature. ID was a universal feature among them (27/27) and seizures were reported in some (9/27):
- 22 subjects from Amish/Mennonite families were homozygous for p.Pro594Leu [NM_004667.5(HERC2):c.1781C>T] (Puffenberger et al 2012 - PMID: 23065719, Harlalka et al 2013 - PMID: 23243086, Abraham et al - PMID: 30902390)
- 2 additional patients were homozygous for another missense SNV [NM_004667.5(HERC2):c.4625G>A - p.Arg1542His] (Abraham et al 2019 - PMID: 30902390)
- 3 sibs born to consanguineous parents, homozygous for NM_004667.5:c.13767_13770delTGAA - p.(Asn4589LysTer4598)] as described by Elpidorou et al.
- 1 male homozygous 286 kb deletion spanning several 5' exons of HERC2 as well as the first exons of OCA2 was described by Morice-Picard et al (2016 - PMID: 27759030). Despite a neurological presentation (axial hypotonia, peripheral hypertonia, extrapyramidal symptoms and uncoordinated movements) further information was not available.

Apart from the cases summarized by Elpidorou et al, there have been few additional ones e.g. :
- Trujillano et al (2017 - PMID: 27848944) reported briefly on a patient, homozygous for NM_004667.5:c.4676-1G>A displaying seizures, hypotonia, global DD, "Encephalopathy" and abnormality of the liver.
- Yavarna et al (2015 - PMID: 26077850) provided few details with on an individual with primarily 'neurocognitive' phenotype but rather atypical presentation (MRI abnormalities, TGA, VSD, renal anomaly, growth retardation, hearing loss) due to p.Q3164X variant (recessive inheritance was specified).

Several lines of evidence support an important role for the protein encoded (an E3 ubiquitin protein ligase, interacting also with UBE3A, involved in several cellular processes incl. cell cycle regulation, spindle formation during mitosis, mitochondrial functions, DNA damage responses by targeting proteins such as XPA) as well as the effect of the reported variants (mRNA studies, Western blot, detection of a fusion transcript in the case of the deletion, etc).

Individuals from the Amish families displayed Angelman-like features (in line with HERC2-UBE3A interaction) with - among others - gait instability. Mouse models recapitulate some of these features (e.g. the movement disorder) as extensively discussed by Abraham et al.

Overall this gene can be included in the ID and epilepsy panels with green rating.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2750 HERC2 Konstantinos Varvagiannis reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23065719, 23243086, 30902390, 32571899, 27848944, 26077850, 27759030; Phenotypes: Mental retardation, autosomal recessive 38 (MIM 615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.160 PTDSS1 Zornitza Stark Marked gene: PTDSS1 as ready
Aortopathy_Connective Tissue Disorders v0.160 PTDSS1 Zornitza Stark Gene: ptdss1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.69 PCSK1 Zornitza Stark reviewed gene: PCSK1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Obesity with impaired prohormone processing (MIM#600955); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.69 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Differences of Sex Development v0.69 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.69 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from to Obesity with impaired prohormone processing (MIM#600955)
Differences of Sex Development v0.68 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Differences of Sex Development v0.67 PCSK1 Zornitza Stark Classified gene: PCSK1 as Amber List (moderate evidence)
Differences of Sex Development v0.67 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.66 PROK2 Zornitza Stark Marked gene: PROK2 as ready
Differences of Sex Development v0.66 PROK2 Zornitza Stark Added comment: Comment when marking as ready: Evidence supporting association between bi-allelic variants causing IHH is stronger than for mono-allelic disease.
Differences of Sex Development v0.66 PROK2 Zornitza Stark Gene: prok2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.66 PROK2 Zornitza Stark Phenotypes for gene: PROK2 were changed from to Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628)
Differences of Sex Development v0.65 PROK2 Zornitza Stark Publications for gene: PROK2 were set to
Differences of Sex Development v0.64 PROK2 Zornitza Stark Mode of inheritance for gene: PROK2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.63 PROP1 Zornitza Stark Marked gene: PROP1 as ready
Differences of Sex Development v0.63 PROP1 Zornitza Stark Gene: prop1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.63 PROP1 Zornitza Stark Phenotypes for gene: PROP1 were changed from to Pituitary hormone deficiency, combined, 2 (MIM#262600)
Differences of Sex Development v0.62 PROP1 Zornitza Stark Publications for gene: PROP1 were set to
Differences of Sex Development v0.61 PROP1 Zornitza Stark Mode of inheritance for gene: PROP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2750 RPL10 Zornitza Stark Marked gene: RPL10 as ready
Intellectual disability syndromic and non-syndromic v0.2750 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2750 RPL10 Zornitza Stark Phenotypes for gene: RPL10 were changed from to Mental retardation, X-linked, syndromic, 35 (MIM#300998)
Intellectual disability syndromic and non-syndromic v0.2749 RPL10 Zornitza Stark Publications for gene: RPL10 were set to
Intellectual disability syndromic and non-syndromic v0.2748 RPL10 Zornitza Stark Mode of inheritance for gene: RPL10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.60 RPL10 Zornitza Stark Marked gene: RPL10 as ready
Differences of Sex Development v0.60 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Differences of Sex Development v0.60 RPL10 Zornitza Stark Classified gene: RPL10 as Green List (high evidence)
Differences of Sex Development v0.60 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Differences of Sex Development v0.59 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Differences of Sex Development v0.59 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Differences of Sex Development v0.59 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Differences of Sex Development v0.59 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Differences of Sex Development v0.58 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Differences of Sex Development v0.58 SEMA3E Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence).
Differences of Sex Development v0.58 SEMA3E Zornitza Stark Classified gene: SEMA3E as Red List (low evidence)
Differences of Sex Development v0.58 SEMA3E Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence).
Differences of Sex Development v0.57 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Differences of Sex Development v0.57 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.57 SGPL1 Zornitza Stark Classified gene: SGPL1 as Green List (high evidence)
Differences of Sex Development v0.57 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.365 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Deafness_IsolatedAndComplex v0.365 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.365 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from to PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Deafness_IsolatedAndComplex v0.364 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Deafness_IsolatedAndComplex v0.363 SOX10 Zornitza Stark Mode of inheritance for gene: SOX10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.56 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Differences of Sex Development v0.56 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Differences of Sex Development v0.56 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266) to Kallman syndrome; PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Differences of Sex Development v0.55 SOX10 Zornitza Stark Classified gene: SOX10 as Green List (high evidence)
Differences of Sex Development v0.55 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Differences of Sex Development v0.54 TAC3 Zornitza Stark Marked gene: TAC3 as ready
Differences of Sex Development v0.54 TAC3 Zornitza Stark Gene: tac3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.54 TAC3 Zornitza Stark Phenotypes for gene: TAC3 were changed from to Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839)
Differences of Sex Development v0.53 TAC3 Zornitza Stark Publications for gene: TAC3 were set to
Differences of Sex Development v0.52 TAC3 Zornitza Stark Mode of inheritance for gene: TAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.51 TOE1 Zornitza Stark Marked gene: TOE1 as ready
Differences of Sex Development v0.51 TOE1 Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.51 TOE1 Zornitza Stark Classified gene: TOE1 as Green List (high evidence)
Differences of Sex Development v0.51 TOE1 Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence).
Mendeliome v0.3309 SGMS2 Bryony Thompson Marked gene: SGMS2 as ready
Mendeliome v0.3309 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Mendeliome v0.3309 SGMS2 Bryony Thompson Classified gene: SGMS2 as Green List (high evidence)
Mendeliome v0.3309 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Mendeliome v0.3308 SGMS2 Bryony Thompson gene: SGMS2 was added
gene: SGMS2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 30779713; 32028018
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Review for gene: SGMS2 was set to GREEN
Added comment: 12 patients from 6 unrelated families with the same stopgain variant (p.Arg50*), with osteoporosis that resembles osteogenesis imperfecta. In vitro over-expression assays of the variant demonstrate protein that was completely mislocalized in the cytosolic and nuclear compartments. 2 unrelated families were heterozygous for 2 missense (p.Ile62Ser, p.Met64Arg) with bone fragility and severe short stature, and spondylometaphyseal dysplasia. In vitro assays of each variant demonstrated an enhanced rate of de novo sphingomyelin production by blocking export of a functional enzyme from the endoplasmic reticulum.
Sources: Expert list
Osteopetrosis v0.3 SGMS2 Bryony Thompson Marked gene: SGMS2 as ready
Osteopetrosis v0.3 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Osteopetrosis v0.3 SGMS2 Bryony Thompson Classified gene: SGMS2 as Green List (high evidence)
Osteopetrosis v0.3 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Osteopetrosis v0.2 SGMS2 Bryony Thompson gene: SGMS2 was added
gene: SGMS2 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 30779713; 32028018
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Review for gene: SGMS2 was set to GREEN
Added comment: 12 patients from 6 unrelated families with the same stopgain variant (p.Arg50*), with osteoporosis that resembles osteogenesis imperfecta. In vitro over-expression assays of the variant demonstrate protein that was completely mislocalized in the cytosolic and nuclear compartments. 2 unrelated families were heterozygous for 2 missense (p.Ile62Ser, p.Met64Arg) with bone fragility and severe short stature, and spondylometaphyseal dysplasia. In vitro assays of each variant demonstrated an enhanced rate of de novo sphingomyelin production by blocking export of a functional enzyme from the endoplasmic reticulum.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.26 SGMS2 Bryony Thompson Marked gene: SGMS2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.26 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.26 SGMS2 Bryony Thompson Classified gene: SGMS2 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.26 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.25 SGMS2 Bryony Thompson gene: SGMS2 was added
gene: SGMS2 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 30779713; 32028018
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Review for gene: SGMS2 was set to GREEN
Added comment: 12 patients from 6 unrelated families with the same stopgain variant (p.Arg50*), with osteoporosis that resembles osteogenesis imperfecta. In vitro over-expression assays of the variant demonstrate protein that was completely mislocalized in the cytosolic and nuclear compartments.
2 unrelated families were heterozygous for 2 missense (p.Ile62Ser, p.Met64Arg) with bone fragility and severe short stature, and spondylometaphyseal dysplasia. In vitro assays of each variant demonstrated an enhanced rate of de novo sphingomyelin production by blocking export of a functional enzyme from the endoplasmic reticulum.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.24 UNC45A Bryony Thompson Marked gene: UNC45A as ready
Osteogenesis Imperfecta and Osteoporosis v0.24 UNC45A Bryony Thompson Gene: unc45a has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.24 UNC45A Bryony Thompson Phenotypes for gene: UNC45A were changed from to cholestasis; congenital diarrhea; impaired hearing; bone fragility
Osteogenesis Imperfecta and Osteoporosis v0.23 UNC45A Bryony Thompson Publications for gene: UNC45A were set to
Osteogenesis Imperfecta and Osteoporosis v0.22 UNC45A Bryony Thompson Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.1 Seb Lunke Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pituitary hormone deficiency v0.0 ZSWIM6 Seb Lunke gene: ZSWIM6 was added
gene: ZSWIM6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZSWIM6 were set to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865); Acromelic frontonasal dysostosis (603671)
Pituitary hormone deficiency v0.0 ZIC2 Seb Lunke gene: ZIC2 was added
gene: ZIC2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZIC2 were set to 24706429
Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5 (609637)
Pituitary hormone deficiency v0.0 WDR11 Seb Lunke gene: WDR11 was added
gene: WDR11 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia (614858)
Pituitary hormone deficiency v0.0 TGIF1 Seb Lunke gene: TGIF1 was added
gene: TGIF1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGIF1 were set to 23476075
Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4 (142946)
Pituitary hormone deficiency v0.0 SLC20A1 Seb Lunke gene: SLC20A1 was added
gene: SLC20A1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SLC20A1 was set to Unknown
Phenotypes for gene: SLC20A1 were set to No OMIM number
Pituitary hormone deficiency v0.0 SLC15A4 Seb Lunke gene: SLC15A4 was added
gene: SLC15A4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SLC15A4 was set to Unknown
Publications for gene: SLC15A4 were set to 29261175
Phenotypes for gene: SLC15A4 were set to No OMIM number
Pituitary hormone deficiency v0.0 SIX3 Seb Lunke gene: SIX3 was added
gene: SIX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170)
Pituitary hormone deficiency v0.0 RBM28 Seb Lunke gene: RBM28 was added
gene: RBM28 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM28 were set to 20231366
Phenotypes for gene: RBM28 were set to ANE syndrome; ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Pituitary hormone deficiency v0.0 PTCH1 Seb Lunke gene: PTCH1 was added
gene: PTCH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTCH1 were set to 11941477
Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (610828)
Pituitary hormone deficiency v0.0 PSTPIP1 Seb Lunke gene: PSTPIP1 was added
gene: PSTPIP1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PSTPIP1 were set to Holoprosencephaly; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416)
Pituitary hormone deficiency v0.0 POLR3A Seb Lunke gene: POLR3A was added
gene: POLR3A was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Pituitary hormone deficiency v0.0 PAX6 Seb Lunke gene: PAX6 was added
gene: PAX6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX6 were set to 25342853
Phenotypes for gene: PAX6 were set to Aniridia (106210)
Pituitary hormone deficiency v0.0 NODAL Seb Lunke gene: NODAL was added
gene: NODAL was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NODAL were set to Holoprosencephaly; Heterotaxy, visceral, 5 (270100)
Pituitary hormone deficiency v0.0 HNRNPU Seb Lunke gene: HNRNPU was added
gene: HNRNPU was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPU were set to Epileptic encephalopathy, early infantile, 54 (617391)
Pituitary hormone deficiency v0.0 HHIP Seb Lunke gene: HHIP was added
gene: HHIP was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: HHIP was set to Unknown
Phenotypes for gene: HHIP were set to No OMIM number
Pituitary hormone deficiency v0.0 GPR161 Seb Lunke gene: GPR161 was added
gene: GPR161 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GPR161 was set to Unknown
Publications for gene: GPR161 were set to 25322266
Phenotypes for gene: GPR161 were set to No OMIM number; pituitary stalk interruption syndrome
Pituitary hormone deficiency v0.0 GHRH Seb Lunke gene: GHRH was added
gene: GHRH was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GHRH was set to Unknown
Publications for gene: GHRH were set to 15155578
Phenotypes for gene: GHRH were set to No OMIM number; ?Isolated growth hormone deficiency due to defect in GHRF
Pituitary hormone deficiency v0.0 FOXH1 Seb Lunke gene: FOXH1 was added
gene: FOXH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FOXH1 was set to Unknown
Phenotypes for gene: FOXH1 were set to Holoprosencephaly; No OMIM number
Pituitary hormone deficiency v0.0 BMP4 Seb Lunke gene: BMP4 was added
gene: BMP4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP4 were set to 24289245
Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6 (607932)
Pituitary hormone deficiency v0.0 BMP2 Seb Lunke gene: BMP2 was added
gene: BMP2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP2 were set to 24289245
Phenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)
Pituitary hormone deficiency v0.0 ARNT2 Seb Lunke gene: ARNT2 was added
gene: ARNT2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475
Phenotypes for gene: ARNT2 were set to ?Webb-Dattani syndrome (615926)
Pituitary hormone deficiency v0.0 TCF7L1 Seb Lunke gene: TCF7L1 was added
gene: TCF7L1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TCF7L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF7L1 were set to 26764381
Phenotypes for gene: TCF7L1 were set to No OMIM number; pituitary hormone deficiency
Pituitary hormone deficiency v0.0 SHH Seb Lunke gene: SHH was added
gene: SHH was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHH were set to 22897141
Phenotypes for gene: SHH were set to Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)
Pituitary hormone deficiency v0.0 KCNQ1 Seb Lunke gene: KCNQ1 was added
gene: KCNQ1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ1 were set to 29097701
Phenotypes for gene: KCNQ1 were set to Pituitary hormone deficiency; Long QT syndrome 1 (192500)
Pituitary hormone deficiency v0.0 CDON Seb Lunke gene: CDON was added
gene: CDON was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDON were set to 21802063; 26529631
Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226)
Pituitary hormone deficiency v0.0 TBX19 Seb Lunke gene: TBX19 was added
gene: TBX19 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX19 were set to 22170728; 11290323; 15476446
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency (201400)
Pituitary hormone deficiency v0.0 SOX3 Seb Lunke gene: SOX3 was added
gene: SOX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SOX3 were set to 24346842; 15800844; 21289259; 24737742
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Pituitary hormone deficiency v0.0 SOX2 Seb Lunke gene: SOX2 was added
gene: SOX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX2 were set to 29371155; 16932809; 30450772
Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900)
Pituitary hormone deficiency v0.0 PROP1 Seb Lunke gene: PROP1 was added
gene: PROP1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 (262600)
Pituitary hormone deficiency v0.0 PROKR2 Seb Lunke gene: PROKR2 was added
gene: PROKR2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PROKR2 were set to 22319038; 25678757; 25759380
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Pituitary hormone deficiency v0.0 POU1F1 Seb Lunke gene: POU1F1 was added
gene: POU1F1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1 (613038)
Pituitary hormone deficiency v0.0 PNPLA6 Seb Lunke gene: PNPLA6 was added
gene: PNPLA6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 25033069
Phenotypes for gene: PNPLA6 were set to Oliver-McFarlane syndrome (275400); Spastic paraplegia 39, autosomal recessive (612020); Boucher-Neuhauser syndrome (215470)
Pituitary hormone deficiency v0.0 PITX2 Seb Lunke gene: PITX2 was added
gene: PITX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX2 were set to Anterior segment dysgenesis 4 (137600); Axenfeld-Rieger syndrome, type 1 (180500)
Pituitary hormone deficiency v0.0 OTX2 Seb Lunke gene: OTX2 was added
gene: OTX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTX2 were set to 19965921; 22715480; 18628516; 18728160
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)
Pituitary hormone deficiency v0.0 LHX4 Seb Lunke gene: LHX4 was added
gene: LHX4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX4 were set to 18073311; 18445675; 11567216
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)
Pituitary hormone deficiency v0.0 LHX3 Seb Lunke gene: LHX3 was added
gene: LHX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750)
Pituitary hormone deficiency v0.0 IGSF1 Seb Lunke gene: IGSF1 was added
gene: IGSF1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767
Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement (300888)
Pituitary hormone deficiency v0.0 HESX1 Seb Lunke gene: HESX1 was added
gene: HESX1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HESX1 were set to 14561704; 26781211; 11136712; 16940453
Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)
Pituitary hormone deficiency v0.0 GNRHR Seb Lunke gene: GNRHR was added
gene: GNRHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110)
Pituitary hormone deficiency v0.0 GLI3 Seb Lunke gene: GLI3 was added
gene: GLI3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI3 were set to 24736735; 15739154
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)
Pituitary hormone deficiency v0.0 GLI2 Seb Lunke gene: GLI2 was added
gene: GLI2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI2 were set to 14581620; 25878059
Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)
Pituitary hormone deficiency v0.0 GHSR Seb Lunke gene: GHSR was added
gene: GHSR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GHSR were set to 19789204; 25557026
Phenotypes for gene: GHSR were set to Growth hormone deficiency, isolated partial (615925)
Pituitary hormone deficiency v0.0 GHRHR Seb Lunke gene: GHRHR was added
gene: GHRHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV (618157)
Pituitary hormone deficiency v0.0 GHR Seb Lunke gene: GHR was added
gene: GHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Growth hormone insensitivity, partial (604271); Increased responsiveness to growth hormone (604271); Laron dwarfism (262500)
Pituitary hormone deficiency v0.0 GH1 Seb Lunke gene: GH1 was added
gene: GH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type IA (262400); Growth hormone deficiency, isolated, type IB (612781); Growth hormone deficiency, isolated, type II (173100)
Pituitary hormone deficiency v0.0 FOXA2 Seb Lunke gene: FOXA2 was added
gene: FOXA2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXA2 were set to 28973288; 29329447; 30414530
Phenotypes for gene: FOXA2 were set to No OMIM number; Congenital hyperinsulinism; Congenital hypopituitarism
Pituitary hormone deficiency v0.0 FGFR1 Seb Lunke gene: FGFR1 was added
gene: FGFR1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR1 were set to 22319038; 25759380
Phenotypes for gene: FGFR1 were set to Jackson-Weiss syndrome (123150); Pfeiffer syndrome (101600); Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465)
Pituitary hormone deficiency v0.0 FGF8 Seb Lunke gene: FGF8 was added
gene: FGF8 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF8 were set to 22319038; 21832120; 20463092
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia (612702)
Pituitary hormone deficiency v0.0 CHD7 Seb Lunke gene: CHD7 was added
gene: CHD7 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia (612370); CHARGE syndrome (214800)
Pituitary hormone deficiency v0.0 BTK Seb Lunke gene: BTK was added
gene: BTK was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BTK were set to 9554752; 8013627; 7849697
Phenotypes for gene: BTK were set to Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)
Pituitary hormone deficiency v0.0 Seb Lunke Added panel Pituitary hormone deficiency
Aortopathy_Connective Tissue Disorders v0.160 PTDSS1 Bryony Thompson Classified gene: PTDSS1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.160 PTDSS1 Bryony Thompson Gene: ptdss1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.159 PTDSS1 Bryony Thompson gene: PTDSS1 was added
gene: PTDSS1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTDSS1 were set to 24241535; 29341480; 31403251
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050
Mode of pathogenicity for gene: PTDSS1 was set to Other
Review for gene: PTDSS1 was set to GREEN
Added comment: 9 unrelated patients with cutis laxa as a prominent feature of a syndromic phenotype, with 5 different de novo (or assumed de novo) heterozygous missense mutations. Gain-of-function is the established or expected mechanism of disease for these variants.
Sources: Expert list
Differences of Sex Development v0.50 PCSK1 Crystle Lee reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562752, 23800642, 17595246, 25272002, 27187081; Phenotypes: Obesity with impaired prohormone processing (MIM#600955); Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v0.158 ATP6V1E1 Bryony Thompson Classified gene: ATP6V1E1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.158 ATP6V1E1 Bryony Thompson Gene: atp6v1e1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.157 ATP6V1E1 Bryony Thompson gene: ATP6V1E1 was added
gene: ATP6V1E1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list
Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1E1 were set to 28065471; 27023906
Phenotypes for gene: ATP6V1E1 were set to Cutis laxa, autosomal recessive, type IIC MIM#617402
Review for gene: ATP6V1E1 was set to GREEN
Added comment: 3 unrelated consanguineous families from Iran, Kuwait, and Saudi Arabia, homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa, each segregating in an affected sibling. Molecular analyses of patient tissues was supportive: complexome profiling in cultured fibroblasts showed a markedly reduced abundance of the assembled V1 domain and of the complete membrane-bound V1V0 complex.
Sources: Expert list
Cutis Laxa v0.5 ATP6V1E1 Bryony Thompson changed review comment from: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular anlayses of patient tissues was supportive.
Sources: Expert list; to: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular analyses of patient tissues was supportive.
Sources: Expert list
Aortopathy_Connective Tissue Disorders v0.156 MAT2A Bryony Thompson Marked gene: MAT2A as ready
Aortopathy_Connective Tissue Disorders v0.156 MAT2A Bryony Thompson Gene: mat2a has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.156 MAT2A Bryony Thompson Classified gene: MAT2A as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v0.156 MAT2A Bryony Thompson Gene: mat2a has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.155 MAT2A Bryony Thompson gene: MAT2A was added
gene: MAT2A was added to Aortopathy_Connective Tissue Disorders. Sources: ClinGen
Mode of inheritance for gene: MAT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAT2A were set to 30071989; 25557781
Phenotypes for gene: MAT2A were set to Thoracic aortic aneurysm
Review for gene: MAT2A was set to AMBER
Added comment: PMID: 25557781 - A rare missense (p.Glu344Ala) identified in a family that segregated with thoracic aortic disease and a second missense was identified in an unrelated thoracic aortic disease proband. Morpholino KO in zebrafish lead to pericardial edema and rescue by human MAT2A
PMID: 30071989 - Classified as Limited by the HTAAD GCEP, downgraded from Moderate due to the absence of additional variants identified in a large (>400) unpublished aortopathy cohort. Categorised as uncertain, because it is a recently reported gene-disease association.
Sources: ClinGen
Aortopathy_Connective Tissue Disorders v0.154 HCN4 Bryony Thompson Marked gene: HCN4 as ready
Aortopathy_Connective Tissue Disorders v0.154 HCN4 Bryony Thompson Gene: hcn4 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.154 HCN4 Bryony Thompson Classified gene: HCN4 as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v0.154 HCN4 Bryony Thompson Gene: hcn4 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.153 HCN4 Bryony Thompson gene: HCN4 was added
gene: HCN4 was added to Aortopathy_Connective Tissue Disorders. Sources: ClinGen
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCN4 were set to 30071989; 27173043
Phenotypes for gene: HCN4 were set to Sick sinus syndrome 2 with cardiac noncompaction and ascending aorta dilation
Review for gene: HCN4 was set to AMBER
Added comment: PMID: 27173043 - Dilation of the ascending aorta was detected in 20 of 26 (77%) HCN4 mutation-positive cases from 7 unrelated families in whom images could be obtained to assess the ascending aorta.
PMID: 30071989 - Classified as Limited by the HTAAD GCEP, downgraded from Moderate due to the absence of aortic dissection and lack of longitudinal data on aortic growth. Categorised as uncertain, because it is a recently reported gene-disease association.
Sources: ClinGen
Differences of Sex Development v0.50 PROK2 Crystle Lee reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18559922, 17054399, 17959774, 18285834; Phenotypes: Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.50 PROP1 Crystle Lee reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15941866, 11549703; Phenotypes: Pituitary hormone deficiency, combined, 2 (MIM#262600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3307 AKR1C4 Zornitza Stark Marked gene: AKR1C4 as ready
Mendeliome v0.3307 AKR1C4 Zornitza Stark Gene: akr1c4 has been classified as Red List (Low Evidence).
Mendeliome v0.3307 AKR1C4 Zornitza Stark Phenotypes for gene: AKR1C4 were changed from to {46XY sex reversal 8, modifier of}, MIM# 614279
Mendeliome v0.3306 AKR1C4 Zornitza Stark Publications for gene: AKR1C4 were set to
Mendeliome v0.3305 AKR1C4 Zornitza Stark Mode of inheritance for gene: AKR1C4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3304 AKR1C4 Zornitza Stark Classified gene: AKR1C4 as Red List (low evidence)
Mendeliome v0.3304 AKR1C4 Zornitza Stark Gene: akr1c4 has been classified as Red List (Low Evidence).
Mendeliome v0.3303 AKR1C4 Zornitza Stark reviewed gene: AKR1C4: Rating: RED; Mode of pathogenicity: None; Publications: 21802064; Phenotypes: {46XY sex reversal 8, modifier of}, MIM# 614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.50 AKR1C4 Zornitza Stark Marked gene: AKR1C4 as ready
Differences of Sex Development v0.50 AKR1C4 Zornitza Stark Gene: akr1c4 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.50 AKR1C4 Zornitza Stark Phenotypes for gene: AKR1C4 were changed from to {46XY sex reversal 8, modifier of}, MIM# 614279
Differences of Sex Development v0.49 AKR1C4 Zornitza Stark Publications for gene: AKR1C4 were set to
Differences of Sex Development v0.48 AKR1C4 Zornitza Stark Mode of inheritance for gene: AKR1C4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.47 AKR1C4 Zornitza Stark Classified gene: AKR1C4 as Red List (low evidence)
Differences of Sex Development v0.47 AKR1C4 Zornitza Stark Gene: akr1c4 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.46 AKR1C4 Zornitza Stark reviewed gene: AKR1C4: Rating: RED; Mode of pathogenicity: None; Publications: 21802064; Phenotypes: {46XY sex reversal 8, modifier of}, MIM# 614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.46 AKR1C2 Zornitza Stark Marked gene: AKR1C2 as ready
Differences of Sex Development v0.46 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.46 AKR1C2 Zornitza Stark Phenotypes for gene: AKR1C2 were changed from to 46XY sex reversal 8, MIM# 614279
Differences of Sex Development v0.45 AKR1C2 Zornitza Stark Publications for gene: AKR1C2 were set to
Differences of Sex Development v0.44 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.43 AKR1C2 Zornitza Stark Classified gene: AKR1C2 as Red List (low evidence)
Differences of Sex Development v0.43 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Achromatopsia v0.18 Bryony Thompson Panel status changed from internal to public
Differences of Sex Development v0.42 AKR1C2 Zornitza Stark reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: 21802064; Phenotypes: 46XY sex reversal 8, MIM# 614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2747 RPL10 Crystle Lee reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 26290468, 25846674, 29066376; Phenotypes: Mental retardation, X-linked, syndromic, 35 (MIM#300998); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.42 RPL10 Crystle Lee gene: RPL10 was added
gene: RPL10 was added to Disorders of Sex Differentiation. Sources: Expert Review
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPL10 were set to 25316788; 26290468; 25846674; 29066376
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 (MIM#300998)
Review for gene: RPL10 was set to GREEN
Added comment: At least 3 variants have been reported. Urogenital anomalies are a feature of the associated condition.

PMID: 25316788: Variant reported in 3 members of a family. Genitourinary abnormalities (ie cryptorchidism) reported in all 3 affected individuals.

PMID: 26290468: Reported in a family with two affected cousins presenting with X-linked ID, cerebellar hypoplasia, and spondylo-epiphyseal dysplasia. Only one of the affected males presented with cryptorchidism.

PMID: 25846674: 3 of 4 affected males in the family presented with urogenital anomalies
Sources: Expert Review
Differences of Sex Development v0.42 SAMD9 Crystle Lee gene: SAMD9 was added
gene: SAMD9 was added to Disorders of Sex Differentiation. Sources: Expert Review
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome (MIM#617053)
Review for gene: SAMD9 was set to GREEN
Added comment: At least 10 families ( 8 diff variants) reported in one publication. External genital abnormalities observed in all 46, XY patients.
Sources: Expert Review
Differences of Sex Development v0.42 SEMA3E Crystle Lee gene: SEMA3E was added
gene: SEMA3E was added to Disorders of Sex Differentiation. Sources: Expert Review
Mode of inheritance for gene: SEMA3E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3E were set to 25985275
Phenotypes for gene: SEMA3E were set to ?CHARGE syndrome (MIM#214800)
Review for gene: SEMA3E was set to RED
Added comment: Only one variant reported in 2 sibling with Kallman syndrome. Mouse model supports involvement of this gene with the phenotype. Variant not present in gnomad in homozygosity.
Sources: Expert Review
Arthrogryposis v0.186 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Arthrogryposis v0.186 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Arthrogryposis v0.186 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked, MIM# 306955; VACTERL association, X-linked, MIM# 314390
Arthrogryposis v0.185 ZIC3 Zornitza Stark Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.184 ZIC3 Zornitza Stark Classified gene: ZIC3 as Red List (low evidence)
Arthrogryposis v0.184 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Arthrogryposis v0.183 ZIC3 Zornitza Stark reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 1, X-linked, MIM# 306955, VACTERL association, X-linked, MIM# 314390; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.42 SGPL1 Crystle Lee gene: SGPL1 was added
gene: SGPL1 was added to Disorders of Sex Differentiation. Sources: Expert Review
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28165339; 28165343; 28181337
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14 (MIM#617575)
Review for gene: SGPL1 was set to GREEN
Added comment: >5 families reported. Cryptorchidism and hypogonadism are features of the associated phenotype.
Sources: Expert Review
Arthrogryposis v0.183 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Arthrogryposis v0.183 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Arthrogryposis v0.183 VAMP1 Zornitza Stark Classified gene: VAMP1 as Green List (high evidence)
Arthrogryposis v0.183 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Arthrogryposis v0.182 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAMP1 were set to 28253535
Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323
Review for gene: VAMP1 was set to GREEN
Added comment: Severe neonatal hypotonia and joint laxity, though joint contractures described in some affected individuals.
Sources: Expert list
Arthrogryposis v0.181 UNC80 Zornitza Stark Marked gene: UNC80 as ready
Arthrogryposis v0.181 UNC80 Zornitza Stark Gene: unc80 has been classified as Red List (Low Evidence).
Arthrogryposis v0.181 UNC80 Zornitza Stark Phenotypes for gene: UNC80 were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801
Arthrogryposis v0.180 UNC80 Zornitza Stark Publications for gene: UNC80 were set to
Arthrogryposis v0.179 UNC80 Zornitza Stark Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.178 UNC80 Zornitza Stark Classified gene: UNC80 as Red List (low evidence)
Arthrogryposis v0.178 UNC80 Zornitza Stark Gene: unc80 has been classified as Red List (Low Evidence).
Arthrogryposis v0.177 UNC80 Zornitza Stark reviewed gene: UNC80: Rating: RED; Mode of pathogenicity: None; Publications: 26545877, 26708753, 26708751; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.362 SOX10 Crystle Lee reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643381, 24845202; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Differences of Sex Development v0.42 SOX10 Crystle Lee gene: SOX10 was added
gene: SOX10 was added to Disorders of Sex Differentiation. Sources: Expert Review
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 23643381; 15004559
Phenotypes for gene: SOX10 were set to PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Mode of pathogenicity for gene: SOX10 was set to Other
Review for gene: SOX10 was set to GREEN
Added comment: Well reported gene disease association. Cryptorchidism and hypogonadism is a feature of Kallman Syndrome and WS4C

PMID: 23643381: Reported 6 variants in individuals with Kallman syndrome which is associated with hypogonadotropic hypogonadism. Functional studies performed.

PMID: 15004559: PCWH is caused by dominant-negative mutations (truncating variants) whereas NMD and thus haploinsufficiency results in WS4C
Sources: Expert Review
Arthrogryposis v0.177 TTN Zornitza Stark Marked gene: TTN as ready
Arthrogryposis v0.177 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Arthrogryposis v0.177 TTN Zornitza Stark Classified gene: TTN as Green List (high evidence)
Arthrogryposis v0.177 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Differences of Sex Development v0.42 TAC3 Crystle Lee reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19079066, 20332248, 23329188, 22031817; Phenotypes: Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.176 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 24105469; 31660661; 29575618; 28040389
Phenotypes for gene: TTN were set to Salih myopathy; Muscular dystrophy, limb-girdle, autosomal recessive 10
Review for gene: TTN was set to GREEN
Added comment: By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures.
Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.
Two families with AMC and biallelic truncating mutations in 29575618; 28040389.
Sources: Expert list
Arthrogryposis v0.175 TRIP4 Zornitza Stark reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.42 TOE1 Crystle Lee gene: TOE1 was added
gene: TOE1 was added to Disorders of Sex Differentiation. Sources: Expert Review
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOE1 were set to 28092684
Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7 (MIM#614969)
Review for gene: TOE1 was set to GREEN
Added comment: >10 families with pontocerebellar hypoplasia type 7 (PCH7) reported with biallelic variants.MRI showed reduced cerebellar volume in these families. Ambiguous genitalia is a feature of this condition.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.140 TOE1 Crystle Lee reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7 (MIM#614969); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.42 TSPYL1 Crystle Lee reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 19463995, 22137496, 25449952, 16418600; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.175 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Arthrogryposis v0.175 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Arthrogryposis v0.175 TBX22 Zornitza Stark Phenotypes for gene: TBX22 were changed from to Cleft palate with ankyloglossia, MIM# 303400
Arthrogryposis v0.174 TBX22 Zornitza Stark Classified gene: TBX22 as Red List (low evidence)
Arthrogryposis v0.174 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Arthrogryposis v0.173 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleft palate with ankyloglossia, MIM# 303400; Mode of inheritance: None
Arthrogryposis v0.173 STAC3 Zornitza Stark Marked gene: STAC3 as ready
Arthrogryposis v0.173 STAC3 Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence).
Arthrogryposis v0.173 STAC3 Zornitza Stark Classified gene: STAC3 as Green List (high evidence)
Arthrogryposis v0.173 STAC3 Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence).
Arthrogryposis v0.172 STAC3 Zornitza Stark gene: STAC3 was added
gene: STAC3 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 23736855; 30168660; 28777491
Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995
Review for gene: STAC3 was set to GREEN
Added comment: Arthrogryposis is part of the phenotype.
Sources: Expert list
Arthrogryposis v0.171 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Arthrogryposis v0.171 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Arthrogryposis v0.171 SMN1 Zornitza Stark Classified gene: SMN1 as Green List (high evidence)
Arthrogryposis v0.171 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Arthrogryposis v0.170 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy, type 0
Review for gene: SMN1 was set to GREEN
Added comment: Most severe end of the spectrum can present with arthrogryposis.
Sources: Expert list
Arthrogryposis v0.169 SLC9A6 Zornitza Stark Deleted their comment
Arthrogryposis v0.169 SLC9A6 Zornitza Stark commented on gene: SLC9A6: Contractures are reported but condition does not
Arthrogryposis v0.169 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Arthrogryposis v0.169 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.169 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Arthrogryposis v0.168 SLC9A6 Zornitza Stark Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.167 SLC9A6 Zornitza Stark Classified gene: SLC9A6 as Amber List (moderate evidence)
Arthrogryposis v0.167 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.166 SLC9A6 Zornitza Stark reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Classified gene: SLC6A9 as Amber List (moderate evidence)
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Classified gene: SLC6A9 as Green List (high evidence)
Arthrogryposis v0.166 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Arthrogryposis v0.165 SLC6A9 Zornitza Stark gene: SLC6A9 was added
gene: SLC6A9 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A9 were set to 27773429; 27481395
Phenotypes for gene: SLC6A9 were set to Glycine encephalopathy with normal serum glycine, MIM#617301; arthrogryposis
Review for gene: SLC6A9 was set to AMBER
Added comment: Two of the reported families have had arthrogryposis as a manifesting feature.
Sources: Expert list
Arthrogryposis v0.164 SLC18A3 Zornitza Stark Marked gene: SLC18A3 as ready
Arthrogryposis v0.164 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.164 SLC18A3 Zornitza Stark Classified gene: SLC18A3 as Amber List (moderate evidence)
Arthrogryposis v0.164 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.163 SLC18A3 Zornitza Stark gene: SLC18A3 was added
gene: SLC18A3 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis
Review for gene: SLC18A3 was set to AMBER
Added comment: Two of four families presented with fetal akinesia and arthrogryposis.
Sources: Expert list
Arthrogryposis v0.162 RBM10 Zornitza Stark Marked gene: RBM10 as ready
Arthrogryposis v0.162 RBM10 Zornitza Stark Gene: rbm10 has been classified as Red List (Low Evidence).
Arthrogryposis v0.162 RBM10 Zornitza Stark Phenotypes for gene: RBM10 were changed from to TARP syndrome, MIM# 311900
Arthrogryposis v0.161 RBM10 Zornitza Stark Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.160 RBM10 Zornitza Stark Classified gene: RBM10 as Red List (low evidence)
Arthrogryposis v0.160 RBM10 Zornitza Stark Gene: rbm10 has been classified as Red List (Low Evidence).
Arthrogryposis v0.159 RBM10 Zornitza Stark reviewed gene: RBM10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: TARP syndrome, MIM# 311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3303 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Mendeliome v0.3303 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3303 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from to Lethal congenital contractural syndrome 3, MIM# 611369
Mendeliome v0.3302 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to
Mendeliome v0.3301 PIP5K1C Zornitza Stark Mode of inheritance for gene: PIP5K1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3300 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Amber List (moderate evidence)
Mendeliome v0.3300 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3299 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701898; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.159 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Arthrogryposis v0.159 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.159 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from to Lethal congenital contractural syndrome 3, MIM# 611369
Arthrogryposis v0.158 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to
Arthrogryposis v0.157 PIP5K1C Zornitza Stark Mode of inheritance for gene: PIP5K1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.156 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Amber List (moderate evidence)
Arthrogryposis v0.156 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.155 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701898; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.155 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Arthrogryposis v0.155 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.155 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Arthrogryposis v0.154 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Arthrogryposis v0.153 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 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)
Arthrogryposis v0.152 OFD1 Zornitza Stark Classified gene: OFD1 as Red List (low evidence)
Arthrogryposis v0.152 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.151 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: 20301367; Phenotypes: Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.151 MYMK Zornitza Stark Marked gene: MYMK as ready
Arthrogryposis v0.151 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Arthrogryposis v0.151 MYMK Zornitza Stark Classified gene: MYMK as Green List (high evidence)
Arthrogryposis v0.151 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Arthrogryposis v0.150 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome 254940
Review for gene: MYMK was set to GREEN
Added comment: Distal contractures are part of the phenotype of this muscle disorder.
Sources: Expert list
Arthrogryposis v0.149 MYL1 Zornitza Stark Marked gene: MYL1 as ready
Arthrogryposis v0.149 MYL1 Zornitza Stark Gene: myl1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.149 MYL1 Zornitza Stark gene: MYL1 was added
gene: MYL1 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 30215711
Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414
Review for gene: MYL1 was set to RED
Added comment: Two families and a zebrafish model. Predominant finding is that of hypotonia, mild contractures reported in one.
Sources: Expert list
Arthrogryposis v0.148 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301719; Phenotypes: MED12-related disorders; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.148 MAGEL2 Zornitza Stark Marked gene: MAGEL2 as ready
Arthrogryposis v0.148 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Arthrogryposis v0.148 MAGEL2 Zornitza Stark Classified gene: MAGEL2 as Green List (high evidence)
Arthrogryposis v0.148 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Arthrogryposis v0.147 MAGEL2 Zornitza Stark gene: MAGEL2 was added
gene: MAGEL2 was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAGEL2 were set to 24076603; 27195816; 26365340
Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome
Review for gene: MAGEL2 was set to GREEN
Added comment: Fountain et al. (2017) reported 18 patients with SHFYNG ascertained on the basis of genetic studies from several different research groups or laboratories. Joint contractures were present in almost all patients, and ranged from only the interphalangeal joints to lethal fetal akinesia with severe arthrogryposis.
Mejlachowicz et al (2015) reported two unrelated families with lethal AMC and heterozygous truncating frameshift MAGEL2 mutations on paternal allele.
Sources: Expert list
Arthrogryposis v0.146 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Arthrogryposis v0.146 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Arthrogryposis v0.146 LMX1B Zornitza Stark Classified gene: LMX1B as Green List (high evidence)
Arthrogryposis v0.146 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Arthrogryposis v0.145 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail-patella syndrome, MIM# 161200
Review for gene: LMX1B was set to GREEN
Added comment: Elbow and knee contractures are common features.
Sources: Expert list
Arthrogryposis v0.144 L1CAM Zornitza Stark Marked gene: L1CAM as ready