PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Chromosome Breakage Disorders v0.75 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.75 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cerebrooculofacioskeletal syndrome 1, MIM# 214150; MONDO:0008955; Cockayne syndrome, type B, MIM# 133540; MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800; MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630; MONDO:0010909
Chromosome Breakage Disorders v0.74 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.73 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150, MONDO:0008955, Cockayne syndrome, type B, MIM# 133540, MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800, MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630, MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.73 Zornitza Stark removed gene:DHCR7 from the panel
Intellectual disability syndromic and non-syndromic v0.3693 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Intellectual disability syndromic and non-syndromic v0.3693 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3693 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Intellectual disability syndromic and non-syndromic v0.3692 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Intellectual disability syndromic and non-syndromic v0.3691 ERCC5 Zornitza Stark Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3690 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7229 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7229 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to 30838033; 24700531
Mendeliome v0.7228 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Xeroderma pigmentosum, group G, MIM# 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216
Chromosome Breakage Disorders v0.72 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Chromosome Breakage Disorders v0.72 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.72 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Chromosome Breakage Disorders v0.71 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Chromosome Breakage Disorders v0.70 ERCC5 Zornitza Stark Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.69 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7227 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Mendeliome v0.7227 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Mendeliome v0.7227 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590
Mendeliome v0.7226 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Mendeliome v0.7225 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7224 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386, 8797827, 23623389, 17183314, 29105242; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215, XFE progeroid syndrome, MIM# 610965, MONDO:0012590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark commented on gene: ERCC4: Excision repair defect resulting in a range of phenotypes.
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590
Chromosome Breakage Disorders v0.68 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Chromosome Breakage Disorders v0.67 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215, XFE progeroid syndrome, MIM# 610965, MONDO:0012590
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965, MONDO:0012590
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed publications: 23623386, 8797827, 23623389, 17183314, 29105242; Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108
Mendeliome v0.7224 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Mendeliome v0.7224 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Mendeliome v0.7224 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651
Mendeliome v0.7223 ERCC3 Zornitza Stark Publications for gene: ERCC3 were set to
Mendeliome v0.7222 ERCC3 Zornitza Stark Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7221 ERCC3 Zornitza Stark reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.64 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Chromosome Breakage Disorders v0.64 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.64 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651
Chromosome Breakage Disorders v0.63 ERCC3 Zornitza Stark Publications for gene: ERCC3 were set to
Chromosome Breakage Disorders v0.62 ERCC3 Zornitza Stark Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.61 ERCC3 Zornitza Stark reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7221 DAAM2 Zornitza Stark Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)
Mendeliome v0.7220 DAAM2 Zornitza Stark edited their review of gene: DAAM2: Changed phenotypes: Nephrotic syndrome, type 24, MIM# 619263, Steroid-resistant nephrotic syndrome (SRNS)
Proteinuria v0.160 DAAM2 Zornitza Stark Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)
Proteinuria v0.159 DAAM2 Zornitza Stark reviewed gene: DAAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 24, MIM# 619263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7220 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642; Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259; Paragangliomas 5 , MIM#614165
Mendeliome v0.7219 SDHA Zornitza Stark Marked gene: SDHA as ready
Mendeliome v0.7219 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Mendeliome v0.7219 SDHA Zornitza Stark Publications for gene: SDHA were set to
Mendeliome v0.7218 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7217 SDHA Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10976639, 27683074, 7550341, 22972948, 20551992, 21752896; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011, Cardiomyopathy, dilated, 1GG, MIM# 613642, Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259, Paragangliomas 5 , MIM#614165; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7217 SLC19A1 Zornitza Stark Marked gene: SLC19A1 as ready
Mendeliome v0.7217 SLC19A1 Zornitza Stark Gene: slc19a1 has been classified as Red List (Low Evidence).
Mendeliome v0.7217 SLC19A1 Zornitza Stark gene: SLC19A1 was added
gene: SLC19A1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A1 were set to 32276275
Phenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775
Review for gene: SLC19A1 was set to RED
Added comment: Single individual reported with in-frame deletion, some functional data.
Sources: Expert list
Red cell disorders v0.5 SLC19A1 Zornitza Stark Marked gene: SLC19A1 as ready
Red cell disorders v0.5 SLC19A1 Zornitza Stark Gene: slc19a1 has been classified as Red List (Low Evidence).
Red cell disorders v0.5 SLC19A1 Zornitza Stark gene: SLC19A1 was added
gene: SLC19A1 was added to Rare anaemia_GEL. Sources: Expert list
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A1 were set to 32276275
Phenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775
Review for gene: SLC19A1 was set to RED
Added comment: Single individual reported with in-frame deletion, some functional data.
Sources: Expert list
Mendeliome v0.7216 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Mendeliome v0.7216 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Mendeliome v0.7216 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212
Mendeliome v0.7215 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Mendeliome v0.7214 ERCC2 Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.61 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Chromosome Breakage Disorders v0.61 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Mendeliome v0.7213 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702, 9758621, 11443545, 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553, Trichothiodystrophy 1, photosensitive, MIM# 601675, MONDO:0011125, Xeroderma pigmentosum, group D, MIM# 278730, MONDO:0010212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.61 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212
Chromosome Breakage Disorders v0.60 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Chromosome Breakage Disorders v0.59 ERCC2 Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.58 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702, 9758621, 11443545, 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, Trichothiodystrophy 1, photosensitive, MIM# 601675, Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3690 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Intellectual disability syndromic and non-syndromic v0.3690 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3690 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554
Intellectual disability syndromic and non-syndromic v0.3689 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Intellectual disability syndromic and non-syndromic v0.3688 ERCC1 Zornitza Stark Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3687 ERCC1 Zornitza Stark reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 32557569, 26085086, 33315086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758, MONDO:0012554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 32557569, 26085086, 33315086
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554
Mendeliome v0.7213 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, MIM# 610758 to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554
Mendeliome v0.7212 ERCC1 Zornitza Stark changed review comment from: Three unrelated families reported, variable severity reported from a Cockayne phenotype with congenital onset and early mortality, through to adolescent presentation with short stature, photosensitivity and progressive liver and renal dysfunction.; to: More than three unrelated families reported, variable severity reported from a Cockayne phenotype with congenital onset and early mortality, through to adolescent presentation with short stature, photosensitivity and progressive liver and renal dysfunction.
Mendeliome v0.7212 ERCC1 Zornitza Stark edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 32557569, 26085086, 33315086
Chromosome Breakage Disorders v0.57 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to 17273966; 23623389; 32557569; 26085086
Chromosome Breakage Disorders v0.56 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Chromosome Breakage Disorders v0.55 ERCC1 Zornitza Stark Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.54 ERCC1 Zornitza Stark reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 32557569, 26085086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Marked gene: CHD3 as ready
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Added comment: Comment when marking as ready: Patient identified through our service where seizures were the presenting feature.
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Classified gene: CHD3 as Green List (high evidence)
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Mendeliome v0.7212 NDUFA8 Zornitza Stark Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures
Mendeliome v0.7211 NDUFA8 Zornitza Stark Publications for gene: NDUFA8 were set to 32385911
Mendeliome v0.7210 NDUFA8 Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence)
Mendeliome v0.7210 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7209 NDUFA8 Zornitza Stark commented on gene: NDUFA8: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.
Mendeliome v0.7209 NDUFA8 Zornitza Stark edited their review of gene: NDUFA8: Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures
Mitochondrial disease v0.599 NDUFA8 Zornitza Stark Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures
Mitochondrial disease v0.598 NDUFA8 Zornitza Stark Publications for gene: NDUFA8 were set to 32385911
Mitochondrial disease v0.597 NDUFA8 Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disease v0.597 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.596 NDUFA8 Zornitza Stark edited their review of gene: NDUFA8: Added comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.; Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures, lactic acidosis
Monogenic Diabetes v0.13 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Monogenic Diabetes v0.12 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Genetic Epilepsy v0.1059 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Genetic Epilepsy v0.1058 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Microcephaly v1.4 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Microcephaly v1.3 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Genetic Epilepsy v0.1058 CHD3 Naomi Baker gene: CHD3 was added
gene: CHD3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD3 were set to PMID: 32483341
Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome MIM#618205
Review for gene: CHD3 was set to GREEN
Added comment: A review of the phenotypic findings in two cohorts of Snijders Blok-Campeau syndrome patients, indicated that 16% (9/55) of patients had seizures.
Sources: Literature
Mendeliome v0.7209 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Mendeliome v0.7208 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Craniosynostosis v1.18 FAM20C Zornitza Stark Classified gene: FAM20C as Green List (high evidence)
Craniosynostosis v1.18 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Craniosynostosis v1.17 FAM20C Zornitza Stark changed review comment from: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly.
Sources: Expert list; to: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly. Aware of unpublished cases.
Sources: Expert list
Craniosynostosis v1.17 FAM20C Zornitza Stark edited their review of gene: FAM20C: Changed rating: GREEN; Changed phenotypes: Raine syndrome, MIM# 259775
Regression v0.298 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to 21617257
Regression v0.297 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Green List (high evidence)
Regression v0.297 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Green List (High Evidence).
Regression v0.296 NDUFA12 Zornitza Stark edited their review of gene: NDUFA12: Added comment: Additional 7 individuals from 4 families reported: several had a progressive course, one specifically described as having complete regression.; Changed rating: GREEN; Changed publications: 21617257, 33715266
Callosome v0.278 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to 21617257
Callosome v0.277 NDUFA12 Zornitza Stark edited their review of gene: NDUFA12: Added comment: Additional 7 patients from 4 families reported in PMID 33715266: no corpus callosum abnormalities.; Changed publications: 21617257, 33715266
Mendeliome v0.7208 RORC Zornitza Stark Publications for gene: RORC were set to 26160376
Mendeliome v0.7207 RORC Zornitza Stark Mode of inheritance for gene: RORC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.72 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Marked gene: RPL10 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Classified gene: RPL10 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Added comment: Comment on list classification: Amber for MM gene list as disputed for autism and rare for ID.
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.69 RPL10 Sarah Righetti changed review comment from: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.

Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation); to: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.

Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation). The syndromal form is rare - a total of 10 males have been reported in the literature (PMID: 29066376).

Given the disputed link to autism, and rarity of the syndromal form of the condition, the gene has been excluded from the MM panel.
Mendeliome v0.7206 KCNH1 Zornitza Stark Marked gene: KCNH1 as ready
Mendeliome v0.7206 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence).
Mendeliome v0.7206 KCNH1 Zornitza Stark Phenotypes for gene: KCNH1 were changed from to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS
Mendeliome v0.7205 KCNH1 Zornitza Stark Publications for gene: KCNH1 were set to
Mendeliome v0.7204 KCNH1 Zornitza Stark Mode of inheritance for gene: KCNH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7203 KCNH1 Zornitza Stark reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Temple-Baraitser syndrome, OMIM:611816, Zimmermann-Laband syndrome 1, OMIM:135500, Intellectual disability, Encephalopathy without features of TBS/ZLS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3687 KCNH1 Zornitza Stark Marked gene: KCNH1 as ready
Intellectual disability syndromic and non-syndromic v0.3687 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3687 KCNH1 Zornitza Stark Phenotypes for gene: KCNH1 were changed from to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS
Intellectual disability syndromic and non-syndromic v0.3686 KCNH1 Zornitza Stark Publications for gene: KCNH1 were set to
Intellectual disability syndromic and non-syndromic v0.3685 KCNH1 Zornitza Stark Mode of inheritance for gene: KCNH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7203 GREB1L Zornitza Stark Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, OMIM# 617805 to Renal hypodysplasia/aplasia 3, OMIM# 617805; Deafness, autosomal dominant 80, MIM# 619274
Mendeliome v0.7202 GREB1L Zornitza Stark Publications for gene: GREB1L were set to 29100091
Mendeliome v0.7201 GREB1L Zornitza Stark edited their review of gene: GREB1L: Added comment: DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves. Four unrelated families reported, no comment on a renal phenotype. Note variants in this gene are also associated with renal agenesis.; Changed publications: 29100091, 29955957, 32585897; Changed phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805, Deafness, autosomal dominant 80, MIM# 619274
Intellectual disability syndromic and non-syndromic v0.3684 KCNH1 Arina Puzriakova reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Temple-Baraitser syndrome, OMIM:611816, Zimmermann-Laband syndrome 1, OMIM:135500, Intellectual disability, Encephalopathy without features of TBS/ZLS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7201 PLD1 Zornitza Stark Tag founder tag was added to gene: PLD1.
Cardiomyopathy_Paediatric v0.86 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Cardiomyopathy_Paediatric v0.86 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.86 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly to Coenzyme Q10 deficiency, primary, 5, MIM# 614654; dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly
Cardiomyopathy_Paediatric v0.85 COQ9 Zornitza Stark Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582
Cardiomyopathy_Paediatric v0.84 COQ9 Zornitza Stark Classified gene: COQ9 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.84 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.83 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM# 614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.83 MIPEP Zornitza Stark Marked gene: MIPEP as ready
Cardiomyopathy_Paediatric v0.83 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.83 MIPEP Zornitza Stark Phenotypes for gene: MIPEP were changed from cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts to Combined oxidative phosphorylation deficiency 31, MIM# 617228; cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts
Cardiomyopathy_Paediatric v0.82 MIPEP Zornitza Stark Classified gene: MIPEP as Green List (high evidence)
Cardiomyopathy_Paediatric v0.82 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.81 MIPEP Zornitza Stark reviewed gene: MIPEP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 31, MIM# 617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.81 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Cardiomyopathy_Paediatric v0.81 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.81 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI to Combined oxidative phosphorylation deficiency 5 , MIM#611719; hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI
Cardiomyopathy_Paediatric v0.80 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481
Cardiomyopathy_Paediatric v0.79 MRPS22 Zornitza Stark Classified gene: MRPS22 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.79 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.78 MRPS22 Zornitza Stark reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 5 , MIM#611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.78 MRPS14 Zornitza Stark Marked gene: MRPS14 as ready
Cardiomyopathy_Paediatric v0.78 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.78 MRPS14 Zornitza Stark Phenotypes for gene: MRPS14 were changed from hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability to Combined oxidative phosphorylation deficiency 38, MIM# 618378; hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability
Cardiomyopathy_Paediatric v0.77 MRPS14 Zornitza Stark Classified gene: MRPS14 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.77 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.76 MRPS14 Zornitza Stark reviewed gene: MRPS14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.76 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Cardiomyopathy_Paediatric v0.76 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.76 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities to Combined oxidative phosphorylation deficiency 17, MIM# 615440; cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities
Cardiomyopathy_Paediatric v0.75 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM# 615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.75 ELAC2 Zornitza Stark Classified gene: ELAC2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.75 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.74 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.74 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark edited their review of gene: UQCRFS1: Added comment: Functional evidence in addition to the two families reported, upgrade to Green.; Changed rating: GREEN
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark Phenotypes for gene: UQCRFS1 were changed from cardiomyopathy; thrombocytopenia; hypotonia to Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; cardiomyopathy; thrombocytopenia; hypotonia
Cardiomyopathy_Paediatric v0.72 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.72 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.71 UQCRFS1 Zornitza Stark reviewed gene: UQCRFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.71 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Cardiomyopathy_Paediatric v0.71 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.71 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros to Congenital disorder of glycosylation, type Ia, MIM# 212065; hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros
Cardiomyopathy_Paediatric v0.70 PMM2 Zornitza Stark Publications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235
Cardiomyopathy_Paediatric v0.69 PMM2 Zornitza Stark Classified gene: PMM2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.69 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.68 PMM2 Zornitza Stark reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28954837, 33388235; Phenotypes: Congenital disorder of glycosylation, type Ia, MIM# 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.68 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Cardiomyopathy_Paediatric v0.68 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.68 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration to HSD10 mitochondrial disease, MIM# 300438; intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration
Cardiomyopathy_Paediatric v0.67 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to PMID: 22127393 (review paper): PubMed: 20077426 (source paper)
Cardiomyopathy_Paediatric v0.66 HSD17B10 Zornitza Stark Classified gene: HSD17B10 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.66 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.65 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1058 EMC10 Zornitza Stark Marked gene: EMC10 as ready
Genetic Epilepsy v0.1058 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1058 EMC10 Zornitza Stark Classified gene: EMC10 as Green List (high evidence)
Genetic Epilepsy v0.1058 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1057 EMC10 Zornitza Stark gene: EMC10 was added
gene: EMC10 was added to Genetic Epilepsy. Sources: Literature
founder tags were added to gene: EMC10.
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC10 were set to 32869858; 33531666
Phenotypes for gene: EMC10 were set to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
Review for gene: EMC10 was set to GREEN
Added comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.

PMID 32869858 : One Saudi family with 2 affected individuals with mild ID, speech delay, and GDD. WES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients.

PMID 33531666: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).
Sources: Literature
Mendeliome v0.7201 EMC10 Zornitza Stark Phenotypes for gene: EMC10 were changed from Intellectual disability to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
Mendeliome v0.7200 EMC10 Zornitza Stark Classified gene: EMC10 as Green List (high evidence)
Mendeliome v0.7200 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Mendeliome v0.7199 EMC10 Zornitza Stark Tag founder tag was added to gene: EMC10.
Intellectual disability syndromic and non-syndromic v0.3684 EMC10 Zornitza Stark Tag founder tag was added to gene: EMC10.
Mendeliome v0.7199 EMC10 Zornitza Stark edited their review of gene: EMC10: Added comment: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).; Changed rating: GREEN; Changed publications: 32869858, 33531666; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
Intellectual disability syndromic and non-syndromic v0.3684 EMC10 Zornitza Stark Phenotypes for gene: EMC10 were changed from Developmental delay and intellectual disability, no OMIM# to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
Intellectual disability syndromic and non-syndromic v0.3683 EMC10 Zornitza Stark Marked gene: EMC10 as ready
Intellectual disability syndromic and non-syndromic v0.3683 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3683 EMC10 Zornitza Stark Publications for gene: EMC10 were set to PMID: 32869858
Intellectual disability syndromic and non-syndromic v0.3682 EMC10 Zornitza Stark Classified gene: EMC10 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3682 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3681 EMC10 Zornitza Stark changed review comment from: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect.; to: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).
Intellectual disability syndromic and non-syndromic v0.3681 EMC10 Zornitza Stark reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: None; Publications: 33531666; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7199 ITGB3 Zornitza Stark Marked gene: ITGB3 as ready
Mendeliome v0.7199 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
Mendeliome v0.7199 ITGB3 Zornitza Stark Phenotypes for gene: ITGB3 were changed from to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552
Mendeliome v0.7198 ITGB3 Zornitza Stark Publications for gene: ITGB3 were set to
Mendeliome v0.7197 ITGB3 Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7196 ITGB3 Zornitza Stark reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18065693, 19336737, 20081061, 23253071; Phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.216 ITGB3 Zornitza Stark Marked gene: ITGB3 as ready
Bleeding and Platelet Disorders v0.216 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.216 ITGB3 Zornitza Stark Phenotypes for gene: ITGB3 were changed from to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552
Bleeding and Platelet Disorders v0.215 ITGB3 Zornitza Stark Publications for gene: ITGB3 were set to
Bleeding and Platelet Disorders v0.214 ITGB3 Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.213 ITGB3 Zornitza Stark reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18065693, 19336737, 20081061, 23253071; Phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7196 KRT8 Seb Lunke reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528; Phenotypes: CIRRHOSIS, FAMILIAL, MIM #215600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke changed review comment from: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.; to: Comment when marking as ready: In gnomAD as p.Gly90Cys with >700hets and 5hom.
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Marked gene: KRT8 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Added comment: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Gene: krt8 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Phenotypes for gene: KRT8 were changed from Cirrhosis, cryptogenic, 215600 (3) to CIRRHOSIS, FAMILIAL, MIM #215600
Mackenzie's Mission_Reproductive Carrier Screening v0.68 KRT8 Seb Lunke Publications for gene: KRT8 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.67 KRT8 Seb Lunke Mode of inheritance for gene: KRT8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mackenzie's Mission_Reproductive Carrier Screening v0.66 KRT8 Seb Lunke Classified gene: KRT8 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.66 KRT8 Seb Lunke Gene: krt8 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.65 ACSF3 Seb Lunke Marked gene: ACSF3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.65 ACSF3 Seb Lunke Gene: acsf3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.65 ACSF3 Seb Lunke Phenotypes for gene: ACSF3 were changed from Combined malonic and methylmalonic aciduria, 614265 (3) to Combined malonic and methylmalonic aciduria, MIM#614265
Mackenzie's Mission_Reproductive Carrier Screening v0.64 ACSF3 Seb Lunke Classified gene: ACSF3 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.64 ACSF3 Seb Lunke Gene: acsf3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.63 RPL10 Seb Lunke Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Mental retardation, X-linked, syndromic, 35 (MIM#300998)
Mackenzie's Mission_Reproductive Carrier Screening v0.62 RPL10 Seb Lunke Classified gene: RPL10 as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.62 RPL10 Seb Lunke Added comment: Comment on list classification: Remaining green due to X-linked neurodevelopment condition until further clarification.
Mackenzie's Mission_Reproductive Carrier Screening v0.62 RPL10 Seb Lunke Gene: rpl10 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.61 RPL10 Seb Lunke Classified gene: RPL10 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.61 RPL10 Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.60 OPN1LW Seb Lunke Phenotypes for gene: OPN1LW were changed from Blue cone monochromacy, 303700 (3) to Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900
Mackenzie's Mission_Reproductive Carrier Screening v0.59 OPN1LW Seb Lunke Classified gene: OPN1LW as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.59 OPN1LW Seb Lunke Gene: opn1lw has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.58 ABCA4 Seb Lunke Phenotypes for gene: ABCA4 were changed from Cone-rod dystrophy 3, 604116 (3) to Stargardt disease 1 MIM#248200; Retinal dystrophy, early-onset severe MIM#248200; Cone-rod dystrophy 3 MIM#604116
Mackenzie's Mission_Reproductive Carrier Screening v0.57 ABCA4 Seb Lunke Classified gene: ABCA4 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.57 ABCA4 Seb Lunke Gene: abca4 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.56 ABCC6 Seb Lunke Phenotypes for gene: ABCC6 were changed from Arterial calcification, generalized, of infancy, 2, 614473 (3) to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473
Mackenzie's Mission_Reproductive Carrier Screening v0.55 ABCC6 Seb Lunke Classified gene: ABCC6 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.55 ABCC6 Seb Lunke Gene: abcc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3681 HDAC4 Bryony Thompson Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962
Intellectual disability syndromic and non-syndromic v0.3680 HDAC4 Bryony Thompson edited their review of gene: HDAC4: Changed publications: 33537682
Mendeliome v0.7196 HDAC4 Bryony Thompson Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962; https://doi.org/10.1016/j.xhgg.2020.100015
Mendeliome v0.7195 HDAC4 Bryony Thompson edited their review of gene: HDAC4: Changed publications: 33537682
Mendeliome v0.7195 TMEM218 Bryony Thompson Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Mendeliome v0.7194 TMEM218 Bryony Thompson edited their review of gene: TMEM218: Changed publications: 33791682, 25161209
Syndromic Retinopathy v0.164 TMEM218 Bryony Thompson Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Joubert syndrome and other neurological ciliopathies v1.3 TMEM218 Bryony Thompson Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Syndromic Retinopathy v0.163 TMEM218 Bryony Thompson edited their review of gene: TMEM218: Changed publications: 33791682, 25161209
Cardiomyopathy_Paediatric v0.65 COQ9 John Christodoulou gene: COQ9 was added
gene: COQ9 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582
Phenotypes for gene: COQ9 were set to dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly
Penetrance for gene: COQ9 were set to Complete
Review for gene: COQ9 was set to GREEN
Added comment: Multiple independent reports of cases with cardiomyopathy of LVNC as features

see OMIM 614654
Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.2 TMEM218 Bryony Thompson edited their review of gene: TMEM218: Changed publications: 33791682, 25161209
Cardiomyopathy_Paediatric v0.65 MIPEP John Christodoulou gene: MIPEP was added
gene: MIPEP was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to PMID: 27799064
Phenotypes for gene: MIPEP were set to cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts
Penetrance for gene: MIPEP were set to Complete
Review for gene: MIPEP was set to GREEN
Added comment: 4 unrelated cases reported in one paper with functional supportive evidence

see OMIM 617228
Sources: Literature
Cardiomyopathy_Paediatric v0.65 MRPS22 John Christodoulou gene: MRPS22 was added
gene: MRPS22 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481
Phenotypes for gene: MRPS22 were set to hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI
Penetrance for gene: MRPS22 were set to Complete
Review for gene: MRPS22 was set to GREEN
Added comment: Three independent reports

the last report suggested the patient also had a Cornelia de Lange-like phenotype

see OMIM 611719
Sources: Literature
Cardiomyopathy_Paediatric v0.65 MRPS14 John Christodoulou gene: MRPS14 was added
gene: MRPS14 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to PMID: 30358850
Phenotypes for gene: MRPS14 were set to hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability
Penetrance for gene: MRPS14 were set to unknown
Review for gene: MRPS14 was set to RED
Added comment: 1 case reported in the paper above

see OMIM 618378
Sources: Literature
Cardiomyopathy_Paediatric v0.65 ELAC2 John Christodoulou gene: ELAC2 was added
gene: ELAC2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELAC2 were set to PMID: 23849775: PMID: 28441660
Phenotypes for gene: ELAC2 were set to cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities
Penetrance for gene: ELAC2 were set to Complete
Review for gene: ELAC2 was set to GREEN
Added comment: 5 cases from 3 unrelated families described in the first paper cited above

see OMIM 615440
Sources: Literature
Cardiomyopathy_Paediatric v0.65 UQCRFS1 John Christodoulou gene: UQCRFS1 was added
gene: UQCRFS1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to PMID: 31883641
Phenotypes for gene: UQCRFS1 were set to cardiomyopathy; thrombocytopenia; hypotonia
Penetrance for gene: UQCRFS1 were set to Complete
Review for gene: UQCRFS1 was set to AMBER
Added comment: I'd label this one as amber: two unrelated cases

see OMIM 618775
Sources: Literature
Cardiomyopathy_Paediatric v0.65 PMM2 John Christodoulou gene: PMM2 was added
gene: PMM2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235
Phenotypes for gene: PMM2 were set to hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros
Penetrance for gene: PMM2 were set to Complete
Review for gene: PMM2 was set to RED
Added comment: OMIM 212065

The two papers cited above are both review papers - the first describes a cohort of 96 patients - 9 had cardiomyopathy
Sources: Literature
Cardiomyopathy_Paediatric v0.65 HSD17B10 John Christodoulou gene: HSD17B10 was added
gene: HSD17B10 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: HSD17B10 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: HSD17B10 were set to PMID: 22127393 (review paper): PubMed: 20077426 (source paper)
Phenotypes for gene: HSD17B10 were set to intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration
Penetrance for gene: HSD17B10 were set to Incomplete
Review for gene: HSD17B10 was set to GREEN
Added comment: OMIM - 300438
Sources: Literature
Arthrogryposis v0.265 UNC50 Zornitza Stark Marked gene: UNC50 as ready
Arthrogryposis v0.265 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.265 UNC50 Zornitza Stark Classified gene: UNC50 as Amber List (moderate evidence)
Arthrogryposis v0.265 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.264 UNC50 Zornitza Stark gene: UNC50 was added
gene: UNC50 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Review for gene: UNC50 was set to AMBER
Added comment: UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype. - PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle. - PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.

Unclear if these are two separate cases or the same case reported twice or ?founder variant.
Sources: Literature
Mendeliome v0.7194 UNC50 Zornitza Stark Marked gene: UNC50 as ready
Mendeliome v0.7194 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7194 UNC50 Zornitza Stark Classified gene: UNC50 as Amber List (moderate evidence)
Mendeliome v0.7194 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7193 ADCY6 Zornitza Stark Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058
Mendeliome v0.7192 ADCY6 Zornitza Stark changed review comment from: Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth. Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency. Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies.
Sources: Literature; to: - PMID: 33820833 (2021) - Further 2 sibs reported with a homozygous c.3346C>T:p.Arg1116Cys variant in the ADCY6 gene. The family was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and IUGR were detected prenatally.

Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth. Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency. Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies.
Sources: Literature
Mendeliome v0.7192 ADCY6 Zornitza Stark edited their review of gene: ADCY6: Changed publications: 24319099, 26257172, 31846058, 33820833
Arthrogryposis v0.263 ADCY6 Zornitza Stark Publications for gene: ADCY6 were set to PMID: 24319099, 26257172, 31846058
Clefting disorders v0.112 PLCH1 Zornitza Stark Marked gene: PLCH1 as ready
Clefting disorders v0.112 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.112 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Clefting disorders v0.112 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.111 PLCH1 Zornitza Stark gene: PLCH1 was added
gene: PLCH1 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3680 PLCH1 Zornitza Stark Marked gene: PLCH1 as ready
Intellectual disability syndromic and non-syndromic v0.3680 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3680 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3680 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3679 PLCH1 Zornitza Stark gene: PLCH1 was added
gene: PLCH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.53 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.53 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.52 PLCH1 Zornitza Stark gene: PLCH1 was added
gene: PLCH1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Mendeliome v0.7192 PLCH1 Zornitza Stark Marked gene: PLCH1 as ready
Mendeliome v0.7192 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7192 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Mendeliome v0.7192 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3678 PIGC Zornitza Stark Marked gene: PIGC as ready
Intellectual disability syndromic and non-syndromic v0.3678 PIGC Zornitza Stark Gene: pigc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3678 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Intellectual disability syndromic and non-syndromic v0.3677 PIGC Zornitza Stark Publications for gene: PIGC were set to
Intellectual disability syndromic and non-syndromic v0.3676 PIGC Zornitza Stark Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.203 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.7191 UNC50 Arina Puzriakova gene: UNC50 was added
gene: UNC50 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Review for gene: UNC50 was set to AMBER
Added comment: UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype.

- PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle.

- PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.

-- Note: it isn't definitively clear whether these are different individuals. Both are singleton males born to consanguineous parents, with the same variant and similar phenotype. Also both infants died at 28 w.g. However, the 2021 paper (PMID:33820833) states their patient was selected from a cohort of cases without a molecular diagnosis and indicate the UNC50 gene had already previously been identified in relation to this phenotype, highlighting the earlier paper (PMID:29016857). There is also no mention of tetra ventricular dilation in the first case, so it is likely that these do represent distinct individuals. Additional cases needed to provide clarity.
Sources: Literature
Arthrogryposis v0.262 ADCY6 Arina Puzriakova reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33820833; Phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7191 PLCH1 Arina Puzriakova gene: PLCH1 was added
gene: PLCH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: PLCH1 is currently not associated with any phenotype in OMIM (last edited on 16/06/2009) or Gene2Phenotype.

- PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease.
Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Microcephaly v1.3 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM#613398 to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Microcephaly v1.2 DDX11 Zornitza Stark Publications for gene: DDX11 were set to 31824187; 20137776; 23033317; 30216658
Microcephaly v1.2 DDX11 Zornitza Stark Publications for gene: DDX11 were set to PMID: 31824187; 20137776; 23033317.
Microcephaly v1.1 DDX11 Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3675 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Intellectual disability syndromic and non-syndromic v0.3675 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3675 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Intellectual disability syndromic and non-syndromic v0.3674 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Intellectual disability syndromic and non-syndromic v0.3673 DDX11 Zornitza Stark Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3672 DDX11 Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7191 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Mendeliome v0.7191 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Mendeliome v0.7191 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Mendeliome v0.7190 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Mendeliome v0.7189 DDX11 Zornitza Stark Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7188 DDX11 Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.54 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Chromosome Breakage Disorders v0.54 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.54 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Chromosome Breakage Disorders v0.53 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Chromosome Breakage Disorders v0.52 DDX11 Zornitza Stark Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.51 DDX11 Zornitza Stark edited their review of gene: DDX11: Changed phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252
Chromosome Breakage Disorders v0.51 DDX11 Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7188 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Mendeliome v0.7188 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7188 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Mendeliome v0.7188 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7187 PDIA6 Zornitza Stark gene: PDIA6 was added
gene: PDIA6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to AMBER
Added comment: Amber in view of the good quality functional data.

1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Monogenic Diabetes v0.11 PDIA6 Zornitza Stark reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.140 PDIA6 Zornitza Stark reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.62 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Skeletal Ciliopathies v0.62 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.62 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.62 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.61 PDIA6 Zornitza Stark reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7186 EXOSC1 Zornitza Stark Marked gene: EXOSC1 as ready
Mendeliome v0.7186 EXOSC1 Zornitza Stark Gene: exosc1 has been classified as Red List (Low Evidence).
Mendeliome v0.7186 EXOSC1 Zornitza Stark gene: EXOSC1 was added
gene: EXOSC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC1 were set to 33463720
Phenotypes for gene: EXOSC1 were set to Pontocerebellar hypoplasia
Review for gene: EXOSC1 was set to RED
Added comment: An 8‐months‐old male with developmental delay, microcephaly, subtle dysmorphism, hypotonia, pontocerebellar hypoplasia and delayed myelination. Similarly affected elder sibling succumbed at the age of 4‐years 6‐months. Exome sequencing revealed a homozygous missense variant (c.104C >T, p.Ser35Leu) in EXOSC1. In silico mutagenesis revealed loss of a polar contact with neighbouring Leu37 residue. Quantitative real‐time PCR indicated no appreciable differences in EXOSC1 transcript levels. Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and EXO9 complex in the proband, respectively. Of note, bi‐allelic variants in other exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.4 EXOSC1 Zornitza Stark Marked gene: EXOSC1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.4 EXOSC1 Zornitza Stark Gene: exosc1 has been classified as Red List (Low Evidence).
Mendeliome v0.7185 CACNA1H Paul De Fazio edited their review of gene: CACNA1H: Changed publications: 27729216, 25907736, 31126930, 16754686, 32571372
Mendeliome v0.7185 CACNA1H Paul De Fazio reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: None; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Autism v0.141 CACNA1H Paul De Fazio reviewed gene: CACNA1H: Rating: RED; Mode of pathogenicity: None; Publications: 16754686, 32571372; Phenotypes: Autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Liver Failure_Paediatric v1.6 MED12 Zornitza Stark Marked gene: MED12 as ready
Liver Failure_Paediatric v1.6 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.163 MED12 Zornitza Stark Marked gene: MED12 as ready
Syndromic Retinopathy v0.163 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Mendeliome v0.7185 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450 to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, OMIM #612726
Mendeliome v0.7184 MED12 Zornitza Stark Publications for gene: MED12 were set to 33244166; 32174975; 30006928; 27312080
Mendeliome v0.7183 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166; Phenotypes: Hardikar syndrome, OMIM #612726; Mode of inheritance: Other
Clefting disorders v0.110 MED12 Zornitza Stark Marked gene: MED12 as ready
Clefting disorders v0.110 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Clefting disorders v0.110 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, OMIM #612726
Clefting disorders v0.109 MED12 Zornitza Stark Publications for gene: MED12 were set to 12784307
Mendeliome v0.7183 UBE4A Zornitza Stark Marked gene: UBE4A as ready
Mendeliome v0.7183 UBE4A Zornitza Stark Gene: ube4a has been classified as Green List (High Evidence).
Mendeliome v0.7183 UBE4A Zornitza Stark Classified gene: UBE4A as Green List (high evidence)
Mendeliome v0.7183 UBE4A Zornitza Stark Gene: ube4a has been classified as Green List (High Evidence).
Mendeliome v0.7182 UBE4A Zornitza Stark gene: UBE4A was added
gene: UBE4A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBE4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE4A were set to 33420346
Phenotypes for gene: UBE4A were set to Intellectual disability and global developmental delay
Review for gene: UBE4A was set to GREEN
Added comment: 8 individuals, from 4 unrelated families, with syndromic intellectual disability and global developmental delay (other clinical features included hypotonia, short stature, seizures, and behaviour disorder. Exome sequencing identified biallelic loss-of-function variants in UBE4A in the 4 families, with variants segregating with disease and parents carriers. They demonstrated that UBE4A loss-of-function variants reduced RNA expression and protein levels in clinical samples. Mice generated to mimic patient-specific Ube4a loss-of-function variant exhibited muscular and neurological/behavioural abnormalities, some of which are suggestive of the clinical abnormalities seen in the affected individuals.
Sources: Literature
Polydactyly v0.192 MAPKAPK5 Zornitza Stark Marked gene: MAPKAPK5 as ready
Polydactyly v0.192 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Polydactyly v0.192 MAPKAPK5 Zornitza Stark Classified gene: MAPKAPK5 as Green List (high evidence)
Polydactyly v0.192 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Polydactyly v0.191 MAPKAPK5 Zornitza Stark gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 3344202
Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic
Review for gene: MAPKAPK5 was set to GREEN
Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers. Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
Sources: Literature
Mendeliome v0.7181 MAPKAPK5 Zornitza Stark Marked gene: MAPKAPK5 as ready
Mendeliome v0.7181 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Mendeliome v0.7181 MAPKAPK5 Zornitza Stark Classified gene: MAPKAPK5 as Green List (high evidence)
Mendeliome v0.7181 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Mendeliome v0.7180 MAPKAPK5 Zornitza Stark gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 3344202
Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic
Review for gene: MAPKAPK5 was set to GREEN
Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.

Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
Sources: Literature
Peroxisomal Disorders v0.19 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154) to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); spastic paraparesis and bilateral cataracts
Peroxisomal Disorders v0.18 FAR1 Zornitza Stark Publications for gene: FAR1 were set to 25439727
Peroxisomal Disorders v0.17 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Peroxisomal Disorders v0.16 FAR1 Zornitza Stark Classified gene: FAR1 as Green List (high evidence)
Peroxisomal Disorders v0.16 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.15 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33239752; Phenotypes: spastic paraparesis and bilateral cataracts; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3672 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; 33239752
Intellectual disability syndromic and non-syndromic v0.3671 FAR1 Zornitza Stark Publications for gene: FAR1 were set to 25439727
Intellectual disability syndromic and non-syndromic v0.3670 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3669 FAR1 Zornitza Stark Classified gene: FAR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3669 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.20 CACNA1H Paul De Fazio reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3668 FAR1 Zornitza Stark edited their review of gene: FAR1: Added comment: PMID 33239752: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.; Changed rating: GREEN; Changed publications: 25439727, 33239752; Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, spastic paraparesis and bilateral cataracts; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7179 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; spastic paraparesis and bilateral cataracts
Mendeliome v0.7178 FAR1 Zornitza Stark Publications for gene: FAR1 were set to 25439727
Mendeliome v0.7177 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7176 FAR1 Zornitza Stark Classified gene: FAR1 as Green List (high evidence)
Mendeliome v0.7176 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Mendeliome v0.7175 FAR1 Zornitza Stark edited their review of gene: FAR1: Added comment: PMID33239752: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.; Changed rating: GREEN; Changed publications: 25439727, 33239752; Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, spastic paraparesis and bilateral cataracts; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.274 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Cataract v0.274 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Cataract v0.274 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts to spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Cataract v0.273 FAR1 Zornitza Stark Publications for gene: FAR1 were set to PMID: 33239752
Cataract v0.272 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.271 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.10 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Hereditary Spastic Paraplegia v1.10 FAR1 Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic disorder Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 also has spasticity as a feature, in addition to ID and cataracts.
Hereditary Spastic Paraplegia v1.10 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.10 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts to spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Hereditary Spastic Paraplegia v1.9 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1056 GRIA3 Zornitza Stark Marked gene: GRIA3 as ready
Genetic Epilepsy v0.1056 GRIA3 Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1056 GRIA3 Zornitza Stark Classified gene: GRIA3 as Green List (high evidence)
Genetic Epilepsy v0.1056 GRIA3 Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1055 GRIA3 Zornitza Stark gene: GRIA3 was added
gene: GRIA3 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GRIA3 were set to 32977175; 17989220
Phenotypes for gene: GRIA3 were set to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)
Review for gene: GRIA3 was set to GREEN
Added comment: PMID: 32977175;17989220: Around 20 individuals with ID reported, mostly males inherited from unaffected mother. Missense have been shown to result in either protein expression reduction or minimal or no channel current, only a couple PTC reported. ID ranges from mild to severe, epilepsy has not been reported in all patients (6/19 by PMID: 32977175), and different types of epilepsy were found.
Sources: Expert Review
Mendeliome v0.7175 GRIA3 Zornitza Stark Marked gene: GRIA3 as ready
Mendeliome v0.7175 GRIA3 Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence).
Mendeliome v0.7175 GRIA3 Zornitza Stark Phenotypes for gene: GRIA3 were changed from to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)
Mendeliome v0.7174 GRIA3 Zornitza Stark Publications for gene: GRIA3 were set to
Mendeliome v0.7173 GRIA3 Zornitza Stark Mode of inheritance for gene: GRIA3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7172 GRIA3 Zornitza Stark reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977175, 17989220; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3668 GRIA3 Zornitza Stark Marked gene: GRIA3 as ready
Intellectual disability syndromic and non-syndromic v0.3668 GRIA3 Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3668 GRIA3 Zornitza Stark Phenotypes for gene: GRIA3 were changed from to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)
Intellectual disability syndromic and non-syndromic v0.3667 GRIA3 Zornitza Stark Publications for gene: GRIA3 were set to
Intellectual disability syndromic and non-syndromic v0.3666 GRIA3 Zornitza Stark Mode of inheritance for gene: GRIA3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Incidentalome v0.61 NTHL1 Zornitza Stark Marked gene: NTHL1 as ready
Incidentalome v0.61 NTHL1 Zornitza Stark Gene: nthl1 has been classified as Green List (High Evidence).
Incidentalome v0.61 NTHL1 Zornitza Stark Classified gene: NTHL1 as Green List (high evidence)
Incidentalome v0.61 NTHL1 Zornitza Stark Gene: nthl1 has been classified as Green List (High Evidence).
Incidentalome v0.60 NTHL1 Zornitza Stark gene: NTHL1 was added
gene: NTHL1 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: NTHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTHL1 were set to 33454955
Phenotypes for gene: NTHL1 were set to NTHL1-associated cancer syndrome
Review for gene: NTHL1 was set to GREEN
Added comment: More than 10 unrelated families reported with a hereditary cancer syndrome predisposing to adenomatous polyposis and colorectal cancer. Half of biallelic carriers also displayed multiple colonic or extra-colonic primary tumors, mainly breast, endometrium, urothelium, and brain tumours. For digestive cancers, average age at diagnosis was 56.2 years.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3665 GRIA3 Michelle Torres reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977175, 17989220; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.271 FAR1 Chirag Patel Classified gene: FAR1 as Green List (high evidence)
Cataract v0.271 FAR1 Chirag Patel Gene: far1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.8 FAR1 Chirag Patel Classified gene: FAR1 as Green List (high evidence)
Hereditary Spastic Paraplegia v1.8 FAR1 Chirag Patel Gene: far1 has been classified as Green List (High Evidence).
Cataract v0.270 FAR1 Chirag Patel gene: FAR1 was added
gene: FAR1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAR1 were set to PMID: 33239752
Phenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts
Review for gene: FAR1 was set to GREEN
Added comment: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Sources: Literature
Hereditary Spastic Paraplegia v1.7 FAR1 Chirag Patel gene: FAR1 was added
gene: FAR1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAR1 were set to PMID: 33239752
Phenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts
Review for gene: FAR1 was set to GREEN
Added comment: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3665 MAPKAPK5 Chirag Patel Classified gene: MAPKAPK5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3665 MAPKAPK5 Chirag Patel Gene: mapkapk5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3664 MAPKAPK5 Chirag Patel gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to PMID: 3344202
Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic
Review for gene: MAPKAPK5 was set to GREEN
Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.

Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3663 UBE4A Chirag Patel Classified gene: UBE4A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3663 UBE4A Chirag Patel Gene: ube4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3662 UBE4A Chirag Patel gene: UBE4A was added
gene: UBE4A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UBE4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE4A were set to PMID: 33420346
Phenotypes for gene: UBE4A were set to Intellectual disability and global developmental delay
Review for gene: UBE4A was set to GREEN
Added comment: 8 individuals, from 4 unrelated families, with syndromic intellectual disability and global developmental delay (other clinical features included hypotonia, short stature, seizures, and behaviour disorder. Exome sequencing identified biallelic loss-of-function variants in UBE4A in the 4 families, with variants segregating with disease and parents carriers. They demonstrated that UBE4A loss-of-function variants reduced RNA expression and protein levels in clinical samples. Mice generated to mimic patient-specific Ube4a loss-of-function variant exhibited muscular and neurological/behavioural abnormalities, some of which are suggestive of the clinical abnormalities seen in the affected individuals.
Sources: Literature
Clefting disorders v0.108 MED12 Chirag Patel Classified gene: MED12 as Green List (high evidence)
Clefting disorders v0.108 MED12 Chirag Patel Gene: med12 has been classified as Green List (High Evidence).
Clefting disorders v0.107 MED12 Chirag Patel reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33244166; Phenotypes: Hardikar syndrome, OMIM #612726; Mode of inheritance: Other
Syndromic Retinopathy v0.163 MED12 Chirag Patel Classified gene: MED12 as Green List (high evidence)
Syndromic Retinopathy v0.163 MED12 Chirag Patel Gene: med12 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.6 MED12 Chirag Patel Classified gene: MED12 as Green List (high evidence)
Liver Failure_Paediatric v1.6 MED12 Chirag Patel Gene: med12 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.5 MED12 Chirag Patel gene: MED12 was added
gene: MED12 was added to Liver Failure_Paediatric. Sources: Literature
Mode of inheritance for gene: MED12 was set to Other
Publications for gene: MED12 were set to PMID: 33244166
Phenotypes for gene: MED12 were set to Hardikar syndrome, OMIM #612726
Review for gene: MED12 was set to GREEN
Added comment: 7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation, but normal cognition).

Exome sequencing identified de novo pathogenic nonsense and frameshift variants in MED12 in all 7 individuals. Evidence of extremely skewed XCI in all patients with informative testing. No functional assays.

Note: pathogenic missense variants in MED12 associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males
Sources: Literature
Syndromic Retinopathy v0.162 MED12 Chirag Patel gene: MED12 was added
gene: MED12 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: MED12 was set to Other
Publications for gene: MED12 were set to PMID: 33244166
Phenotypes for gene: MED12 were set to Hardikar syndrome, OMIM #612726
Review for gene: MED12 was set to GREEN
Added comment: 7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation, but normal cognition).

Exome sequencing identified de novo pathogenic nonsense and frameshift variants in MED12 in all 7 individuals. Evidence of extremely skewed XCI in all patients with informative testing. No functional assays.

Note: pathogenic missense variants in MED12 associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.4 EXOSC1 Chirag Patel gene: EXOSC1 was added
gene: EXOSC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC1 were set to PMID: 33463720
Phenotypes for gene: EXOSC1 were set to Pontocerebellar hypoplasia
Review for gene: EXOSC1 was set to RED
Added comment: An 8‐months‐old male with developmental delay, microcephaly, subtle dysmorphism, hypotonia, pontocerebellar hypoplasia and delayed myelination. Similarly affected elder sibling succumbed at the age of 4‐years 6‐months. Exome sequencing revealed a homozygous missense variant (c.104C >T, p.Ser35Leu) in EXOSC1. In silico mutagenesis revealed loss of a polar contact with neighbouring Leu37 residue. Quantitative real‐time PCR indicated no appreciable differences in EXOSC1 transcript levels. Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and EXO9 complex in the proband, respectively. Of note, bi‐allelic variants in other exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively.
Sources: Literature
Skeletal Ciliopathies v0.61 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to PMID: 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to RED
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.140 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to PMID: 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to RED
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Monogenic Diabetes v0.11 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to PMID: 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to RED
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Mendeliome v0.7172 FAT1 Ee Ming Wong changed review comment from: - 5 consanguineous families with homozygous frameshift mutations in FAN1
- FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice
- in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation; to: - 5 consanguineous families with homozygous frameshift mutations in FAT1
- FAT1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice
- in human retinal pigment epithelium (RPE) cells, FAT1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation
Proteinuria v0.159 FAT1 Ee Ming Wong changed review comment from: - Four affected individuals who are homozygous or compound heterozgous carriers of a FAN1 variant
- Fibroblasts from a homozygous FAN1 carriers demonstrated loss of FAN1 protein and decreased cell migration rate compared to WT control cells.
- Fat1 knockdown in renal tubular cells reduces migration and results in defective lumen formation. Knockdown of fat1 in zebrafish results in pronephric cysts.; to: - Four affected individuals who are homozygous or compound heterozgous carriers of a FAT1 variant
- Fibroblasts from a homozygous FAT1 carriers demonstrated loss of FAN1 protein and decreased cell migration rate compared to WT control cells.
- Fat1 knockdown in renal tubular cells reduces migration and results in defective lumen formation. Knockdown of fat1 in zebrafish results in pronephric cysts.
Lysosomal Storage Disorder v1.0 Zornitza Stark promoted panel to version 1.0
Lysosomal Storage Disorder v0.192 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Lysosomal Storage Disorder v0.192 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.192 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600; GM1-gangliosidosis, type III, MIM# 230650; Mucopolysaccharidosis type IVB (Morquio), MIM# 253010
Lysosomal Storage Disorder v0.191 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Lysosomal Storage Disorder v0.190 GLB1 Zornitza Stark Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.189 GLB1 Zornitza Stark reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1907800, 1909089, 17309651, 11511921; Phenotypes: GM1-gangliosidosis, type I, MIM# 230500, GM1-gangliosidosis, type II, MIM# 230600, GM1-gangliosidosis, type III, MIM# 230650, Mucopolysaccharidosis type IVB (Morquio), MIM# 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Tag founder tag was added to gene: SLC17A5.
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from to Salla disease 604369; MONDO:0011449; Sialic acid storage disorder, infantile 269920; MONDO:0010027
Mendeliome v0.7172 SLC17A5 Zornitza Stark Tag founder tag was added to gene: SLC17A5.
Mendeliome v0.7172 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Mendeliome v0.7172 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Mendeliome v0.7172 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from to Salla disease 604369; MONDO:0011449; Sialic acid storage disorder, infantile 269920; MONDO:0010027
Mendeliome v0.7171 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Mendeliome v0.7170 SLC17A5 Zornitza Stark Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.188 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Mendeliome v0.7169 SLC17A5 Zornitza Stark Deleted their comment
Mendeliome v0.7169 SLC17A5 Zornitza Stark edited their review of gene: SLC17A5: Added comment: Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form or a slowly progressive adult form, which is prevalent in Finland and referred to as Salla disease. p.Arg39Cys is a founder Finnish variant. Multiple families reported.; Changed publications: 10581036, 10947946; Changed phenotypes: Salla disease 604369, MONDO:0011449, Sialic acid storage disorder, infantile 269920, MONDO:0010027
Lysosomal Storage Disorder v0.187 SLC17A5 Zornitza Stark Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.186 SLC17A5 Zornitza Stark reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581036, 10947946; Phenotypes: Salla disease 604369, MONDO:0011449, Sialic acid storage disorder, infantile 269920, MONDO:0010027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3661 SGSH Zornitza Stark Marked gene: SGSH as ready
Intellectual disability syndromic and non-syndromic v0.3661 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3661 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Intellectual disability syndromic and non-syndromic v0.3660 SGSH Zornitza Stark Publications for gene: SGSH were set to
Intellectual disability syndromic and non-syndromic v0.3659 SGSH Zornitza Stark Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3658 SGSH Zornitza Stark reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900, MONDO:0009655; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7169 SGSH Zornitza Stark Marked gene: SGSH as ready
Mendeliome v0.7169 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Mendeliome v0.7169 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Mendeliome v0.7168 SGSH Zornitza Stark Publications for gene: SGSH were set to
Mendeliome v0.7167 SGSH Zornitza Stark Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7166 SGSH Zornitza Stark reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900, MONDO:0009655; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.186 SGSH Zornitza Stark Marked gene: SGSH as ready
Lysosomal Storage Disorder v0.186 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.186 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Lysosomal Storage Disorder v0.185 SGSH Zornitza Stark Publications for gene: SGSH were set to
Lysosomal Storage Disorder v0.184 SGSH Zornitza Stark Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SGSH Zornitza Stark reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7166 SMPD1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Niemann-Pick disease (NPD) refers to a group of disorders that present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2-3years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings.

Well established gene-disease association.
Intellectual disability syndromic and non-syndromic v0.3658 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Intellectual disability syndromic and non-syndromic v0.3658 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3658 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756
Intellectual disability syndromic and non-syndromic v0.3657 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Intellectual disability syndromic and non-syndromic v0.3656 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Niemann-Pick disease (NPD) refers to a group of disorders that present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2-3years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings.

Well established gene-disease association.
Intellectual disability syndromic and non-syndromic v0.3655 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32292456, 32280632, 28164782; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7166 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Mendeliome v0.7166 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Mendeliome v0.7166 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871
Mendeliome v0.7165 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Mendeliome v0.7164 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark edited their review of gene: SMPD1: Changed publications: 32292456, 32280632, 28164782
Mendeliome v0.7163 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32292456, 32280632, 28164782; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756, Niemann-Pick disease, type B, MIM# 607616, MONDO:0011871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871
Lysosomal Storage Disorder v0.182 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Lysosomal Storage Disorder v0.181 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.180 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756, Niemann-Pick disease, type B, MIM# 607616, MONDO:0011871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.296 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Regression v0.296 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Regression v0.296 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769
Regression v0.295 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Regression v0.294 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.293 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark changed review comment from: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.; to: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.

Clinical course is characterised by progressive neurological deterioration and seizures.
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Mendeliome v0.7163 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270 to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270; MONDO:0012235
Mendeliome v0.7162 TPP1 Zornitza Stark Publications for gene: TPP1 were set to 31283065
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270; MONDO:0012235
Mendeliome v0.7161 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769, Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270, MONDO:0012235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.179 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Lysosomal Storage Disorder v0.178 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.177 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769, Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270, MONDO:0012235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7161 PSAP Zornitza Stark changed review comment from: Well established gene-disease association for bi-allelic variants. Early-onset PD reported with mono-allelic variants.; to: Well established gene-disease association for bi-allelic variants. Early-onset PD reported with mono-allelic variants.

The PSAP gene encodes saposins A, B, C and D. Variants resulting in PSAP null allele can be shared in patients with the deficit of other saposins (A-D) or whole prosaposin. The patient's phenotype depends then on the nature of the second allele - atypical Gaucher disease in case of saposin A, MLD in case of saposin B, and Krabbe disease in case of saposin C impairing mutations. The clinically most severe prosaposin deficit is caused by the presence of two PSAP null alleles.
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark edited their review of gene: PSAP: Changed phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590, Gaucher disease, atypical, MIM# 610539, MONDO:0012517
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark Marked gene: PSAP as ready
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from to Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; MONDO:0009590; Gaucher disease, atypical, MIM# 610539; MONDO:0012517
Mendeliome v0.7161 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Parkinson disease, AD; Combined SAP deficiency 611721; Gaucher disease, atypical, MIM# 610539; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 to Parkinson disease, AD; Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; MONDO:0009590; Gaucher disease, atypical, MIM# 610539; MONDO:0012517
Mendeliome v0.7160 PSAP Zornitza Stark edited their review of gene: PSAP: Changed phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590, Gaucher disease, atypical, MIM# 610539, MONDO:0012517
Lysosomal Storage Disorder v0.176 PSAP Zornitza Stark Publications for gene: PSAP were set to
Mendeliome v0.7160 PSAP Zornitza Stark edited their review of gene: PSAP: Changed publications: 32201884, 10682309, 1371116, 15773042, 31061751, 30632081
Lysosomal Storage Disorder v0.175 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.174 PSAP Zornitza Stark reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10682309, 1371116, 15773042, 31061751, 30632081; Phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7160 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Mendeliome v0.7160 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Mendeliome v0.7160 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744
Mendeliome v0.7159 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Mendeliome v0.7158 PPT1 Zornitza Stark Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7157 PPT1 Zornitza Stark reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.174 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Lysosomal Storage Disorder v0.174 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.174 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744
Lysosomal Storage Disorder v0.173 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Lysosomal Storage Disorder v0.172 PPT1 Zornitza Stark Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.171 PPT1 Zornitza Stark reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.171 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Lysosomal Storage Disorder v0.171 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.171 NPC2 Zornitza Stark Phenotypes for gene: NPC2 were changed from to Niemann-pick disease, type C2, MIM# 607625; MONDO:0011873
Lysosomal Storage Disorder v0.170 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Lysosomal Storage Disorder v0.169 NPC2 Zornitza Stark Mode of inheritance for gene: NPC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.168 NPC2 Zornitza Stark reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11125141, 17470133; Phenotypes: Niemann-pick disease, type C2, MIM# 607625, MONDO:0011873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.168 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Lysosomal Storage Disorder v0.168 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.168 NPC1 Zornitza Stark Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1 and type D, MIM# 257220; MONDO:0009757
Lysosomal Storage Disorder v0.167 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Lysosomal Storage Disorder v0.166 NPC1 Zornitza Stark Mode of inheritance for gene: NPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.165 NPC1 Zornitza Stark reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9211849, 11333381; Phenotypes: Niemann-Pick disease, type C1 and type D, MIM# 257220, MONDO:0009757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7157 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Mendeliome v0.7157 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Mendeliome v0.7157 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from to Sialidosis, type I and type II, MIM# 256550; MONDO:0009738
Mendeliome v0.7156 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Mendeliome v0.7155 NEU1 Zornitza Stark Mode of inheritance for gene: NEU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7154 NEU1 Zornitza Stark reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8985184, 9054950, 11063730; Phenotypes: Sialidosis, type I and type II, MIM# 256550, MONDO:0009738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.165 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Lysosomal Storage Disorder v0.165 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.165 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from to Sialidosis, type I and type II, MIM# 256550; MONDO:0009738
Lysosomal Storage Disorder v0.164 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Lysosomal Storage Disorder v0.163 NEU1 Zornitza Stark Mode of inheritance for gene: NEU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.162 NEU1 Zornitza Stark reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8985184, 9054950, 11063730; Phenotypes: Sialidosis, type I and type II, MIM# 256550, MONDO:0009738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.162 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Lysosomal Storage Disorder v0.162 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.162 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; MONDO:0009656; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; MONDO:0014665
Mendeliome v0.7154 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491 to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; MONDO:0009656; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; MONDO:0014665
Mendeliome v0.7153 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Mendeliome v0.7153 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Mendeliome v0.7153 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491
Mendeliome v0.7152 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Mendeliome v0.7151 NAGLU Zornitza Stark Mode of inheritance for gene: NAGLU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7150 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920, Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.161 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Lysosomal Storage Disorder v0.160 NAGLU Zornitza Stark Mode of inheritance for gene: NAGLU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.159 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920, Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.159 NAGA Zornitza Stark Marked gene: NAGA as ready
Lysosomal Storage Disorder v0.159 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Mendeliome v0.7150 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241) to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
Mendeliome v0.7149 NAGA Zornitza Stark Publications for gene: NAGA were set to 1313741; 31468281
Lysosomal Storage Disorder v0.159 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
Mendeliome v0.7148 NAGA Zornitza Stark reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241, alpha-N-acetylgalactosaminidase deficiency MONDO:0017779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.158 NAGA Zornitza Stark Publications for gene: NAGA were set to
Lysosomal Storage Disorder v0.157 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.156 NAGA Zornitza Stark reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241, alpha-N-acetylgalactosaminidase deficiency MONDO:0017779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Marked gene: MIA3 as ready
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Classified gene: MIA3 as Amber List (moderate evidence)
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.89 MIA3 Zornitza Stark gene: MIA3 was added
gene: MIA3 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163; 33778321
Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269
Review for gene: MIA3 was set to AMBER
Added comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization.
Sources: Expert list
Mendeliome v0.7148 MIA3 Zornitza Stark Marked gene: MIA3 as ready
Mendeliome v0.7148 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7148 MIA3 Zornitza Stark Classified gene: MIA3 as Amber List (moderate evidence)
Mendeliome v0.7148 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7147 MIA3 Zornitza Stark changed review comment from: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability.

Four affected siblings reported. Mouse model has absence of bone mineralization.
Sources: Expert list; to: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability.

Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization.
Sources: Expert list
Mendeliome v0.7147 MIA3 Zornitza Stark gene: MIA3 was added
gene: MIA3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163; 33778321
Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269
Review for gene: MIA3 was set to AMBER
Added comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability.

Four affected siblings reported. Mouse model has absence of bone mineralization.
Sources: Expert list
Regression v0.293 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Regression v0.293 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Regression v0.293 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588
Regression v0.292 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Regression v0.291 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.290 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3655 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Intellectual disability syndromic and non-syndromic v0.3655 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3655 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588
Intellectual disability syndromic and non-syndromic v0.3654 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Intellectual disability syndromic and non-syndromic v0.3653 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3652 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7146 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170 to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588; Macular dystrophy with central cone involvement, MIM# 616170; MONDO:0014515
Mendeliome v0.7145 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to 31006324
Mendeliome v0.7144 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.156 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Lysosomal Storage Disorder v0.156 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.156 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588; Macular dystrophy with central cone involvement, MIM# 616170; MONDO:0014515
Lysosomal Storage Disorder v0.155 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Lysosomal Storage Disorder v0.154 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.153 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3652 MCOLN1 Zornitza Stark Tag SV/CNV tag was added to gene: MCOLN1.
Intellectual disability syndromic and non-syndromic v0.3652 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Intellectual disability syndromic and non-syndromic v0.3652 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3652 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Intellectual disability syndromic and non-syndromic v0.3651 MCOLN1 Zornitza Stark Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3650 MCOLN1 Zornitza Stark reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650, MONDO:0009653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7144 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Mendeliome v0.7144 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Mendeliome v0.7144 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Mendeliome v0.7143 MCOLN1 Zornitza Stark Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7142 MCOLN1 Zornitza Stark Tag SV/CNV tag was added to gene: MCOLN1.
Mendeliome v0.7142 MCOLN1 Zornitza Stark reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650, MONDO:0009653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.153 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, MIM# 252650 to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Lysosomal Storage Disorder v0.152 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Lysosomal Storage Disorder v0.152 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.152 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650
Lysosomal Storage Disorder v0.151 MCOLN1 Zornitza Stark Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.150 MCOLN1 Zornitza Stark Tag SV/CNV tag was added to gene: MCOLN1.
Lysosomal Storage Disorder v0.150 MCOLN1 Zornitza Stark reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3650 MANBA Zornitza Stark Marked gene: MANBA as ready
Intellectual disability syndromic and non-syndromic v0.3650 MANBA Zornitza Stark Gene: manba has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3650 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562
Intellectual disability syndromic and non-syndromic v0.3649 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3648 MANBA Zornitza Stark reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7142 MANBA Zornitza Stark Marked gene: MANBA as ready
Mendeliome v0.7142 MANBA Zornitza Stark Gene: manba has been classified as Green List (High Evidence).
Mendeliome v0.7142 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562
Mendeliome v0.7141 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7140 MANBA Zornitza Stark reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.150 MANBA Zornitza Stark Marked gene: MANBA as ready
Lysosomal Storage Disorder v0.150 MANBA Zornitza Stark Gene: manba has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.150 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562
Lysosomal Storage Disorder v0.149 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.148 MANBA Zornitza Stark reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.290 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Regression v0.290 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Regression v0.290 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Regression v0.289 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.288 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3648 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Intellectual disability syndromic and non-syndromic v0.3648 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3648 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Intellectual disability syndromic and non-syndromic v0.3647 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3646 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7140 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Mendeliome v0.7140 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Mendeliome v0.7140 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Mendeliome v0.7139 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7138 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.148 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Lysosomal Storage Disorder v0.148 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.148 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Lysosomal Storage Disorder v0.147 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.146 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Immunological disorders_SuperPanel v1.3 Bryony Thompson Changed child panels to: Susceptibility to Fungal Infections; Combined Immunodeficiency; Systemic Autoinflammatory Disease_Periodic Fever; Common Variable Immunodeficiency; Disorders of immune dysregulation; Defects of innate immunity; Susceptibility to Viral Infections; Predominantly Antibody Deficiency; Inflammatory bowel disease; Phagocyte Defects; Complement Deficiencies; Severe Combined Immunodeficiency (absent T present B cells); Hyper-IgE syndrome; Severe Combined Immunodeficiency (absent T absent B cells); Mendelian susceptibility to Immune Disorders; Hereditary angioedema
Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital
Hirschsprung disease v0.13 L1CAM Tiong Tan Marked gene: L1CAM as ready
Hirschsprung disease v0.13 L1CAM Tiong Tan Gene: l1cam has been classified as Green List (High Evidence).
Hirschsprung disease v0.13 L1CAM Tiong Tan reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 15148591, 9279760, 11857550, 22344793, 11897831; Phenotypes: Hirschsprung disease in L1CAM syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7138 LIPA Zornitza Stark Marked gene: LIPA as ready
Mendeliome v0.7138 LIPA Zornitza Stark Gene: lipa has been classified as Green List (High Evidence).
Mendeliome v0.7138 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204
Mendeliome v0.7137 LIPA Zornitza Stark Publications for gene: LIPA were set to
Mendeliome v0.7136 LIPA Zornitza Stark Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7135 LIPA Zornitza Stark reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11487567; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.146 LIPA Zornitza Stark Marked gene: LIPA as ready
Lysosomal Storage Disorder v0.146 LIPA Zornitza Stark Gene: lipa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.146 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204
Lysosomal Storage Disorder v0.145 LIPA Zornitza Stark Publications for gene: LIPA were set to
Lysosomal Storage Disorder v0.144 LIPA Zornitza Stark Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.143 LIPA Zornitza Stark reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11487567; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.143 LAMP2 Zornitza Stark edited their review of gene: LAMP2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Lysosomal Storage Disorder v0.143 LAMP2 Zornitza Stark changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2.; to: XLD. Gene encodes lysosome-associated membrane protein-2.

Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease) with 'normal acid maltase' or alpha-glucosidase, however, it may be more accurately classified as a lysosomal disorder.
Mendeliome v0.7135 LAMP2 Zornitza Stark changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2.; to: XLD. Gene encodes lysosome-associated membrane protein-2.

Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease) with 'normal acid maltase' or alpha-glucosidase, however, it may be more accurately classified as a lysosomal disorder.
Mendeliome v0.7135 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Mendeliome v0.7135 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Mendeliome v0.7135 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM# 300257; MONDO:0010281
Mendeliome v0.7134 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.7133 LAMP2 Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257, MONDO:0010281; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Lysosomal Storage Disorder v0.143 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Lysosomal Storage Disorder v0.142 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Lysosomal Storage Disorder v0.142 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.142 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM# 300257; MONDO:0010281
Lysosomal Storage Disorder v0.141 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Unknown to Other
Lysosomal Storage Disorder v0.140 LAMP2 Zornitza Stark changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy.; to: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2.
Lysosomal Storage Disorder v0.140 LAMP2 Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257, MONDO:0010281; Mode of inheritance: Other
Mendeliome v0.7133 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070) to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070); Mucopolysaccharidosis type 1, MONDO:0001586
Mendeliome v0.7132 IDUA Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.140 IDUA Zornitza Stark Marked gene: IDUA as ready
Lysosomal Storage Disorder v0.140 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.140 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih, MIM# 607014; Mucopolysaccharidosis Ih/s, MIM# 607015; Mucopolysaccharidosis Is, MIM# 607016; Mucopolysaccharidosis type 1, MONDO:0001586
Lysosomal Storage Disorder v0.139 IDUA Zornitza Stark Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.138 IDUA Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis Ih, MIM# 607014, Mucopolysaccharidosis Ih/s, MIM# 607015, Mucopolysaccharidosis Is, MIM# 607016, Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7132 IDS Zornitza Stark Marked gene: IDS as ready
Mendeliome v0.7132 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Mendeliome v0.7132 IDS Zornitza Stark Phenotypes for gene: IDS were changed from to Mucopolysaccharidosis II, MIM# 309900; MONDO:0010674; Hunter syndrome
Mendeliome v0.7131 IDS Zornitza Stark Publications for gene: IDS were set to
Mendeliome v0.7130 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7129 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II, MIM# 309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.138 IDS Zornitza Stark Marked gene: IDS as ready
Lysosomal Storage Disorder v0.138 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.138 IDS Zornitza Stark Phenotypes for gene: IDS were changed from to Mucopolysaccharidosis II, MIM# 309900; MONDO:0010674; Hunter syndrome
Lysosomal Storage Disorder v0.137 IDS Zornitza Stark Publications for gene: IDS were set to
Lysosomal Storage Disorder v0.136 IDS Zornitza Stark Mode of inheritance for gene: IDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.135 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II, MIM# 309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3646 USP18 Zornitza Stark Marked gene: USP18 as ready
Intellectual disability syndromic and non-syndromic v0.3646 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3646 USP18 Zornitza Stark Phenotypes for gene: USP18 were changed from to Pseudo-TORCH syndrome 2; OMIM #617397
Intellectual disability syndromic and non-syndromic v0.3645 USP18 Zornitza Stark Publications for gene: USP18 were set to
Intellectual disability syndromic and non-syndromic v0.3644 USP18 Zornitza Stark Mode of inheritance for gene: USP18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.6 TSPOAP1 Alison Yeung Marked gene: TSPOAP1 as ready
Hereditary Spastic Paraplegia v1.6 TSPOAP1 Alison Yeung Gene: tspoap1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.6 TSPOAP1 Alison Yeung Classified gene: TSPOAP1 as Green List (high evidence)
Hereditary Spastic Paraplegia v1.6 TSPOAP1 Alison Yeung Gene: tspoap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3643 TSPOAP1 Alison Yeung Marked gene: TSPOAP1 as ready
Intellectual disability syndromic and non-syndromic v0.3643 TSPOAP1 Alison Yeung Gene: tspoap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3643 TSPOAP1 Alison Yeung Classified gene: TSPOAP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3643 TSPOAP1 Alison Yeung Gene: tspoap1 has been classified as Green List (High Evidence).
Leukodystrophy v0.216 CLDN11 Alison Yeung Marked gene: CLDN11 as ready
Leukodystrophy v0.216 CLDN11 Alison Yeung Gene: cldn11 has been classified as Green List (High Evidence).
Leukodystrophy v0.216 CLDN11 Alison Yeung Classified gene: CLDN11 as Green List (high evidence)
Leukodystrophy v0.216 CLDN11 Alison Yeung Gene: cldn11 has been classified as Green List (High Evidence).
Leukodystrophy v0.215 CLDN11 Melanie Marty gene: CLDN11 was added
gene: CLDN11 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN11 were set to 33313762
Phenotypes for gene: CLDN11 were set to Hypomyelinating leukodystrophy
Review for gene: CLDN11 was set to GREEN
Added comment: In three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia, 2 different heterozygous de novo stop-loss variants were identified. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.
Sources: Literature
Disorders of immune dysregulation v0.79 SYK Alison Yeung Marked gene: SYK as ready
Disorders of immune dysregulation v0.79 SYK Alison Yeung Gene: syk has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.79 SYK Alison Yeung Classified gene: SYK as Green List (high evidence)
Disorders of immune dysregulation v0.79 SYK Alison Yeung Gene: syk has been classified as Green List (High Evidence).
Mendeliome v0.7129 ERBB2 Alison Yeung Classified gene: ERBB2 as Red List (low evidence)
Mendeliome v0.7129 ERBB2 Alison Yeung Gene: erbb2 has been classified as Red List (Low Evidence).
Mendeliome v0.7128 ERBB2 Teresa Zhao reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: 33720042; Phenotypes: Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.65 RBCK1 Tiong Tan Publications for gene: RBCK1 were set to PMID: 7971833
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Marked gene: RBCK1 as ready
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Added comment: Comment when marking as ready: Need to add to immune superpanel
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Gene: rbck1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Classified gene: RBCK1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.64 RBCK1 Tiong Tan Gene: rbck1 has been classified as Green List (High Evidence).
Mendeliome v0.7128 VWA1 Alison Yeung Marked gene: VWA1 as ready
Mendeliome v0.7128 VWA1 Alison Yeung Gene: vwa1 has been classified as Green List (High Evidence).
Mendeliome v0.7128 VWA1 Alison Yeung Classified gene: VWA1 as Green List (high evidence)
Mendeliome v0.7128 VWA1 Alison Yeung Gene: vwa1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.63 RBCK1 Tiong Tan reviewed gene: RBCK1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7127 VWA1 Melanie Marty gene: VWA1 was added
gene: VWA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA1 were set to 33459760; 33693694; 33559681
Phenotypes for gene: VWA1 were set to Hereditary motor neuropathy
Review for gene: VWA1 was set to GREEN
Added comment: Six different truncating variants identified in 15 affected individuals from six families (biallelic inheritance). Disease manifested in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Myopathological and neurophysiological findings were indicative of combined neurogenic and myopathic pathology. Early childhood foot deformity was frequent, but no sensory signs were observed.

An additional 17 individuals from 15 families with hereditary motor neuropathy were identified. A 10-bp repeat expansion at the end of exon 1 was observed in 14 families and was homozygous in 10 of them. This mutation, c.62_71dup [p.Gly25Argfs*74], leads to a frameshift that results in a reduction in VWA1 transcript levels via nonsense-mediated decay.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3642 TSPOAP1 Ain Roesley gene: TSPOAP1 was added
gene: TSPOAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPOAP1 were set to 33539324
Phenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy
Penetrance for gene: TSPOAP1 were set to unknown
Review for gene: TSPOAP1 was set to GREEN
Added comment: 7 affecteds from 3 families (1 consanguineous)
2x null, 1x missense

Affecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted)

mice KO models were investigated
Sources: Literature
Mendeliome v0.7127 GIPC1 Alison Yeung Classified gene: GIPC1 as Amber List (moderate evidence)
Mendeliome v0.7127 GIPC1 Alison Yeung Gene: gipc1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.5 TSPOAP1 Ain Roesley gene: TSPOAP1 was added
gene: TSPOAP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPOAP1 were set to 33539324
Phenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy
Penetrance for gene: TSPOAP1 were set to unknown
Review for gene: TSPOAP1 was set to GREEN
Added comment: 7 affecteds from 3 families (1 consanguineous)
2x null, 1x missense

Affecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted)

mice KO models were investigated
Sources: Literature
Genetic Epilepsy v0.1054 NCDN Alison Yeung Marked gene: NCDN as ready
Genetic Epilepsy v0.1054 NCDN Alison Yeung Gene: ncdn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1054 NCDN Alison Yeung Classified gene: NCDN as Green List (high evidence)
Genetic Epilepsy v0.1054 NCDN Alison Yeung Gene: ncdn has been classified as Green List (High Evidence).
Mendeliome v0.7126 TSPOAP1 Tiong Tan Marked gene: TSPOAP1 as ready
Mendeliome v0.7126 TSPOAP1 Tiong Tan Gene: tspoap1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.171 TSPOAP1 Tiong Tan gene: TSPOAP1 was added
gene: TSPOAP1 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPOAP1 were set to 33539324
Phenotypes for gene: TSPOAP1 were set to dystonia; intellectual disability; cerebellar atrophy
Penetrance for gene: TSPOAP1 were set to Complete
Review for gene: TSPOAP1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3642 NCDN Alison Yeung Marked gene: NCDN as ready
Intellectual disability syndromic and non-syndromic v0.3642 NCDN Alison Yeung Gene: ncdn has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3642 NCDN Alison Yeung Classified gene: NCDN as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3642 NCDN Alison Yeung Gene: ncdn has been classified as Green List (High Evidence).
Vitreoretinopathy v1.1 CTNNA1 Alison Yeung Marked gene: CTNNA1 as ready
Vitreoretinopathy v1.1 CTNNA1 Alison Yeung Gene: ctnna1 has been classified as Green List (High Evidence).
Vitreoretinopathy v1.1 CTNNA1 Alison Yeung Classified gene: CTNNA1 as Green List (high evidence)
Vitreoretinopathy v1.1 CTNNA1 Alison Yeung Gene: ctnna1 has been classified as Green List (High Evidence).
Hirschsprung disease v0.13 ERBB3 Alison Yeung Marked gene: ERBB3 as ready
Hirschsprung disease v0.13 ERBB3 Alison Yeung Gene: erbb3 has been classified as Green List (High Evidence).
Hirschsprung disease v0.13 ERBB3 Alison Yeung Classified gene: ERBB3 as Green List (high evidence)
Hirschsprung disease v0.13 ERBB3 Alison Yeung Gene: erbb3 has been classified as Green List (High Evidence).
Mendeliome v0.7126 TSPOAP1 Tiong Tan Classified gene: TSPOAP1 as Green List (high evidence)
Mendeliome v0.7126 TSPOAP1 Tiong Tan Added comment: Comment on list classification: Need to add to HSP gene lists too - dystonia/HSP
Mendeliome v0.7126 TSPOAP1 Tiong Tan Gene: tspoap1 has been classified as Green List (High Evidence).
Mendeliome v0.7125 CLDN11 Alison Yeung Marked gene: CLDN11 as ready
Mendeliome v0.7125 CLDN11 Alison Yeung Gene: cldn11 has been classified as Green List (High Evidence).
Mendeliome v0.7125 CLDN11 Alison Yeung Classified gene: CLDN11 as Green List (high evidence)
Mendeliome v0.7125 CLDN11 Alison Yeung Gene: cldn11 has been classified as Green List (High Evidence).
Mendeliome v0.7124 GIPC1 Dean Phelan reviewed gene: GIPC1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33374016; Phenotypes: Oculopharyngodistal myopathy 2 (MIM#618940); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hirschsprung disease v0.12 ERBB3 Teresa Zhao gene: ERBB3 was added
gene: ERBB3 was added to Hirschsprung disease. Sources: Literature
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 33720042
Phenotypes for gene: ERBB3 were set to Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623
Review for gene: ERBB3 was set to GREEN
Added comment: Seven variants (missense and frameshfit) from four independent families with Hirschsprung disease (HSCR) reported.

All reported individuals variably associated with conditions such as HSCR, chronic intestinal pseudo-obstruction, peripheral neuropathy, and arthrogryposis.

Functional study revealed mutant proteins reduced protein expression or altered phosphorylation of the mutant receptors.
Sources: Literature
Genetic Epilepsy v0.1053 NCDN Ain Roesley gene: NCDN was added
gene: NCDN was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NCDN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NCDN were set to 33711248
Phenotypes for gene: NCDN were set to neurodevelopmental delay, intellectual disability, and epilepsy
Penetrance for gene: NCDN were set to unknown
Review for gene: NCDN was set to GREEN
Added comment: 4x families all missense and de novo except for 1 consag family where 3 affecteds were homozygous and carrier parents unaffected

ID ranged from mild to severe
3/4 probands had seizures
only 3 affecteds had MRI done, with 1 delayed myelination

in vitro studies were done
Sources: Literature
Mendeliome v0.7124 ERBB3 Alison Yeung Classified gene: ERBB3 as Green List (high evidence)
Mendeliome v0.7124 ERBB3 Alison Yeung Gene: erbb3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3641 NCDN Ain Roesley gene: NCDN was added
gene: NCDN was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NCDN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NCDN were set to 33711248
Phenotypes for gene: NCDN were set to neurodevelopmental delay, intellectual disability, and epilepsy
Penetrance for gene: NCDN were set to unknown
Added comment: 4x families all missense and de novo except for 1 consag family where 3 affecteds were homozygous and carrier parents unaffected

ID ranged from mild to severe
3/4 probands had seizures
only 3 affecteds had MRI done, with 1 delayed myelination

in vitro studies were done
Sources: Literature
Mendeliome v0.7123 SYK Alison Yeung Marked gene: SYK as ready
Mendeliome v0.7123 SYK Alison Yeung Gene: syk has been classified as Green List (High Evidence).
Mendeliome v0.7123 SYK Alison Yeung Classified gene: SYK as Green List (high evidence)
Mendeliome v0.7123 SYK Alison Yeung Gene: syk has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.55 SERPINH1 Alison Yeung Marked gene: SERPINH1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.55 SERPINH1 Alison Yeung Gene: serpinh1 has been classified as Green List (High Evidence).
Vitreoretinopathy v1.0 CTNNA1 Teresa Zhao gene: CTNNA1 was added
gene: CTNNA1 was added to Vitreoretinopathy. Sources: Literature
Mode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNNA1 were set to 33497368
Phenotypes for gene: CTNNA1 were set to Familial exudative vitreoretinopathy
Review for gene: CTNNA1 was set to GREEN
Added comment: Three independent families reported with familial exudative vitreoretinopathy (FEVR)
Sources: Literature
Mendeliome v0.7122 NCDN Alison Yeung Marked gene: NCDN as ready
Mendeliome v0.7122 NCDN Alison Yeung Gene: ncdn has been classified as Green List (High Evidence).
Mendeliome v0.7122 NCDN Alison Yeung Classified gene: NCDN as Green List (high evidence)
Mendeliome v0.7122 NCDN Alison Yeung Gene: ncdn has been classified as Green List (High Evidence).
Mendeliome v0.7121 TSPOAP1 Ain Roesley gene: TSPOAP1 was added
gene: TSPOAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPOAP1 were set to 33539324
Phenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy
Penetrance for gene: TSPOAP1 were set to unknown
Review for gene: TSPOAP1 was set to GREEN
Added comment: 7 affecteds from 3 families (1 consanguineous)
2x null, 1x missense

Affecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted)

mice KO models were investigated
Sources: Literature
Mendeliome v0.7121 ERBB3 Teresa Zhao reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33720042; Phenotypes: Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.78 SYK Paul De Fazio gene: SYK was added
gene: SYK was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SYK were set to 33782605
Phenotypes for gene: SYK were set to Immune dysregulation and systemic inflammation
Mode of pathogenicity for gene: SYK was set to Other
Review for gene: SYK was set to GREEN
gene: SYK was marked as current diagnostic
Added comment: 5 unrelated patients with monoallelic missense variants in SYK with immune deficiency, multi-organ inflammatory disease such as colitis, arthritis and dermatitis, and diffuse large B cell lymphomas. 2 patients were confirmed de novo, others were undetermined. Variants exhibited a GoF effect in functional studies. A knock-in mouse model of a patient variant recapitulated aspects of the human disease.
Sources: Literature
Mendeliome v0.7121 CLDN11 Melanie Marty gene: CLDN11 was added
gene: CLDN11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN11 were set to 33313762
Phenotypes for gene: CLDN11 were set to Hypomyelinating leukodystrophy
Review for gene: CLDN11 was set to GREEN
Added comment: In three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia, 2 different heterozygous de novo stop-loss variants were identified. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.
Sources: Literature
Mendeliome v0.7121 SYK Paul De Fazio gene: SYK was added
gene: SYK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SYK were set to 33782605
Phenotypes for gene: SYK were set to Immune dysregulation and systemic inflammation
Mode of pathogenicity for gene: SYK was set to Other
Review for gene: SYK was set to GREEN
gene: SYK was marked as current diagnostic
Added comment: 5 unrelated patients with monoallelic missense variants in SYK with immune deficiency, multi-organ inflammatory disease such as colitis, arthritis and dermatitis, and diffuse large B cell lymphomas. 2 patients were confirmed de novo, others were undetermined. Variants exhibited a GoF effect in functional studies. A knock-in mouse model of a patient variant recapitulated aspects of the human disease.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.55 SERPINH1 Dean Phelan reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33524049; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.7121 NCDN Ain Roesley gene: NCDN was added
gene: NCDN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NCDN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NCDN were set to 33711248
Phenotypes for gene: NCDN were set to neurodevelopmental delay, intellectual disability, and epilepsy
Penetrance for gene: NCDN were set to unknown
Review for gene: NCDN was set to GREEN
Added comment: 4x families all missense and de novo except for 1 consag family where 3 affecteds were homozygous and carrier parents unaffected

ID ranged from mild to severe
3/4 probands had seizures
only 3 affecteds had MRI done, with 1 delayed myelination

in vitro studies were done
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3641 TBX1 Zornitza Stark Marked gene: TBX1 as ready
Intellectual disability syndromic and non-syndromic v0.3641 TBX1 Zornitza Stark Gene: tbx1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3641 TBX1 Zornitza Stark Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome, MIM# 188400
Intellectual disability syndromic and non-syndromic v0.3640 TBX1 Zornitza Stark Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3639 TBX1 Zornitza Stark Tag SV/CNV tag was added to gene: TBX1.
Intellectual disability syndromic and non-syndromic v0.3639 TBX1 Zornitza Stark reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: DiGeorge syndrome, MIM# 188400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7121 SLC5A5 Zornitza Stark Marked gene: SLC5A5 as ready
Mendeliome v0.7121 SLC5A5 Zornitza Stark Gene: slc5a5 has been classified as Green List (High Evidence).
Mendeliome v0.7121 SLC5A5 Zornitza Stark Phenotypes for gene: SLC5A5 were changed from to Thyroid dyshormonogenesis 1, MIM# 274400; MONDO:0020716
Mendeliome v0.7120 SLC5A5 Zornitza Stark Publications for gene: SLC5A5 were set to
Mendeliome v0.7119 SLC5A5 Zornitza Stark Mode of inheritance for gene: SLC5A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7118 SLC5A5 Zornitza Stark reviewed gene: SLC5A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9745458, 9171822, 33815280, 32319661; Phenotypes: Thyroid dyshormonogenesis 1, MIM# 274400, MONDO:0020716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3639 SLC5A5 Zornitza Stark Marked gene: SLC5A5 as ready
Intellectual disability syndromic and non-syndromic v0.3639 SLC5A5 Zornitza Stark Gene: slc5a5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3639 SLC5A5 Zornitza Stark Phenotypes for gene: SLC5A5 were changed from to Thyroid dyshormonogenesis 1, MIM# 274400
Intellectual disability syndromic and non-syndromic v0.3638 SLC5A5 Zornitza Stark Mode of inheritance for gene: SLC5A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3637 SLC5A5 Zornitza Stark Classified gene: SLC5A5 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3637 SLC5A5 Zornitza Stark Gene: slc5a5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3636 SLC5A5 Zornitza Stark reviewed gene: SLC5A5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 1, MIM# 274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.63 RBCK1 John Christodoulou reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7971833: 23889995, 23798481; Phenotypes: myopathy, immunodeficiency, cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.63 RBCK1 John Christodoulou gene: RBCK1 was added
gene: RBCK1 was added to Cardiomyopathy_Paediatric. Sources: Other
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBCK1 were set to PMID: 7971833
Penetrance for gene: RBCK1 were set to Complete
Genetic Epilepsy v0.1053 SLC45A1 Zornitza Stark reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28434495; Phenotypes: Intellectual developmental disorder with neuropsychiatric features, MIM# 617532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7118 SLC45A1 Zornitza Stark Marked gene: SLC45A1 as ready
Mendeliome v0.7118 SLC45A1 Zornitza Stark Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7118 SLC45A1 Zornitza Stark Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532
Mendeliome v0.7117 SLC45A1 Zornitza Stark Publications for gene: SLC45A1 were set to
Mendeliome v0.7116 SLC45A1 Zornitza Stark Mode of inheritance for gene: SLC45A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7115 SLC45A1 Zornitza Stark Classified gene: SLC45A1 as Amber List (moderate evidence)
Mendeliome v0.7115 SLC45A1 Zornitza Stark Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7114 SLC45A1 Zornitza Stark reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28434495; Phenotypes: Intellectual developmental disorder with neuropsychiatric features, MIM# 617532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3636 SLC45A1 Zornitza Stark Marked gene: SLC45A1 as ready
Intellectual disability syndromic and non-syndromic v0.3636 SLC45A1 Zornitza Stark Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3636 SLC45A1 Zornitza Stark Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532
Intellectual disability syndromic and non-syndromic v0.3635 SLC45A1 Zornitza Stark Publications for gene: SLC45A1 were set to
Intellectual disability syndromic and non-syndromic v0.3634 SLC45A1 Zornitza Stark Mode of inheritance for gene: SLC45A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3633 SLC45A1 Zornitza Stark Classified gene: SLC45A1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3633 SLC45A1 Zornitza Stark Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3632 SLC45A1 Zornitza Stark reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28434495; Phenotypes: Intellectual developmental disorder with neuropsychiatric features, MIM# 617532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3632 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Intellectual disability syndromic and non-syndromic v0.3632 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3632 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome, MIM# 227810
Intellectual disability syndromic and non-syndromic v0.3631 SLC2A2 Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3630 SLC2A2 Zornitza Stark Classified gene: SLC2A2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3630 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3629 SLC2A2 Zornitza Stark reviewed gene: SLC2A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3629 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Intellectual disability syndromic and non-syndromic v0.3629 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3629 PIK3R2 Zornitza Stark Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387
Intellectual disability syndromic and non-syndromic v0.3628 PIK3R2 Zornitza Stark Publications for gene: PIK3R2 were set to
Intellectual disability syndromic and non-syndromic v0.3627 PIK3R2 Zornitza Stark Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3626 PIK3R2 Zornitza Stark reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22729224, 23745724, 33604570; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3626 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Intellectual disability syndromic and non-syndromic v0.3626 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3626 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010
Intellectual disability syndromic and non-syndromic v0.3625 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to 18371931
Intellectual disability syndromic and non-syndromic v0.3625 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Intellectual disability syndromic and non-syndromic v0.3624 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7114 MESP1 Zornitza Stark Marked gene: MESP1 as ready
Mendeliome v0.7114 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7114 MESP1 Zornitza Stark Classified gene: MESP1 as Amber List (moderate evidence)
Mendeliome v0.7114 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7113 MESP1 Zornitza Stark gene: MESP1 was added
gene: MESP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MESP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MESP1 were set to 28677747; 28050627; 27185833; 26694203
Phenotypes for gene: MESP1 were set to Congenital heart disease
Review for gene: MESP1 was set to AMBER
Added comment: Rare/novel variants reported in at least 7 unrelated individuals with congenital heart disease, in-silicos conflicting, familial segregation only available for some (one de novo, three inherited, others unresolved). Functional data implicates gene in cardiac development.
Sources: Expert list
Congenital Heart Defect v0.104 MESP1 Zornitza Stark Marked gene: MESP1 as ready
Congenital Heart Defect v0.104 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.104 MESP1 Zornitza Stark Phenotypes for gene: MESP1 were changed from to Congenital heart disease
Congenital Heart Defect v0.103 MESP1 Zornitza Stark Publications for gene: MESP1 were set to
Congenital Heart Defect v0.102 MESP1 Zornitza Stark Mode of inheritance for gene: MESP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.101 MESP1 Zornitza Stark Classified gene: MESP1 as Amber List (moderate evidence)
Congenital Heart Defect v0.101 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.100 MESP1 Zornitza Stark reviewed gene: MESP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28677747, 28050627, 27185833, 26694203; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3623 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Intellectual disability syndromic and non-syndromic v0.3623 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3623 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410; Apert syndrome, MIM# 101200
Intellectual disability syndromic and non-syndromic v0.3622 FGFR2 Zornitza Stark Mode of inheritance for gene: FGFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3621 FGFR2 Zornitza Stark Classified gene: FGFR2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3621 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3620 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410, Apert syndrome, MIM# 101200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3620 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Intellectual disability syndromic and non-syndromic v0.3620 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3620 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, MIM# 213700
Intellectual disability syndromic and non-syndromic v0.3619 CYP27A1 Zornitza Stark Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3618 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3618 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3617 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.69 HYAL1 Zornitza Stark Mode of inheritance for gene: HYAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.68 HYAL1 Zornitza Stark edited their review of gene: HYAL1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7112 HYAL1 Zornitza Stark Marked gene: HYAL1 as ready
Mendeliome v0.7112 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7112 HYAL1 Zornitza Stark Phenotypes for gene: HYAL1 were changed from to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093
Mendeliome v0.7111 HYAL1 Zornitza Stark Publications for gene: HYAL1 were set to
Mendeliome v0.7110 HYAL1 Zornitza Stark Mode of inheritance for gene: HYAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7109 HYAL1 Zornitza Stark Classified gene: HYAL1 as Amber List (moderate evidence)
Mendeliome v0.7109 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7108 HYAL1 Zornitza Stark reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 10339581, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.68 HYAL1 Zornitza Stark Marked gene: HYAL1 as ready
Macrocephaly_Megalencephaly v0.68 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.68 HYAL1 Zornitza Stark Phenotypes for gene: HYAL1 were changed from to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093
Macrocephaly_Megalencephaly v0.67 HYAL1 Zornitza Stark Publications for gene: HYAL1 were set to
Macrocephaly_Megalencephaly v0.66 HYAL1 Zornitza Stark Classified gene: HYAL1 as Red List (low evidence)
Macrocephaly_Megalencephaly v0.66 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.65 HYAL1 Zornitza Stark reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: 10339581, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: None
Lysosomal Storage Disorder v0.135 HYAL1 Zornitza Stark Marked gene: HYAL1 as ready
Lysosomal Storage Disorder v0.135 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.135 HYAL1 Zornitza Stark Phenotypes for gene: HYAL1 were changed from to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093
Lysosomal Storage Disorder v0.134 HYAL1 Zornitza Stark Publications for gene: HYAL1 were set to
Lysosomal Storage Disorder v0.133 HYAL1 Zornitza Stark Mode of inheritance for gene: HYAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.132 HYAL1 Zornitza Stark Classified gene: HYAL1 as Amber List (moderate evidence)
Lysosomal Storage Disorder v0.132 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Amber List (Moderate Evidence).
Lysosomal Storage Disorder v0.131 HYAL1 Zornitza Stark reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 10339581, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.65 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Macrocephaly_Megalencephaly v0.65 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.65 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657
Macrocephaly_Megalencephaly v0.64 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Macrocephaly_Megalencephaly v0.63 HGSNAT Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.62 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536183; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3617 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Intellectual disability syndromic and non-syndromic v0.3617 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3617 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657
Intellectual disability syndromic and non-syndromic v0.3616 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Intellectual disability syndromic and non-syndromic v0.3615 HGSNAT Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3614 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.288 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Regression v0.288 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Regression v0.288 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657
Regression v0.287 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Regression v0.286 HGSNAT Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.285 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7108 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687 to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657; Retinitis pigmentosa 73, MIM# 616544; MONDO:0014687
Mendeliome v0.7107 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 25859010; Phenotypes: Retinitis pigmentosa 73, MIM# 616544, MONDO:0014687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.131 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to 17033958; 25859010
Mendeliome v0.7107 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to 19479962; 31228227; 20825431; 20583299
Lysosomal Storage Disorder v0.130 HGSNAT Zornitza Stark edited their review of gene: HGSNAT: Changed publications: 17033958, 25859010, 19479962, 31228227, 20825431, 20583299
Mendeliome v0.7106 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930); Retinitis pigmentosa 73 (MIM # 616544) to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687
Lysosomal Storage Disorder v0.130 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Lysosomal Storage Disorder v0.130 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.130 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657; Retinitis pigmentosa 73, MIM# 616544; MONDO:0014687
Lysosomal Storage Disorder v0.129 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Lysosomal Storage Disorder v0.128 HGSNAT Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.127 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033958, 25859010; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657, Retinitis pigmentosa 73, MIM# 616544, MONDO:0014687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7105 HEXB Zornitza Stark Marked gene: HEXB as ready
Mendeliome v0.7105 HEXB Zornitza Stark Gene: hexb has been classified as Green List (High Evidence).
Mendeliome v0.7105 HEXB Zornitza Stark Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006
Mendeliome v0.7104 HEXB Zornitza Stark Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7103 HEXB Zornitza Stark reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800, MONDO:0010006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark changed review comment from: Well established gene-disease association.

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.; to: Well established gene-disease association.

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.

Later onset, milder disease presenting with neurological signs such as ataxia has also been described.
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark Marked gene: HEXB as ready
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark Gene: hexb has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.127 HEXB Zornitza Stark Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006
Lysosomal Storage Disorder v0.126 HEXB Zornitza Stark Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.125 HEXB Zornitza Stark reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800, MONDO:0010006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7103 HEXA Zornitza Stark Phenotypes for gene: HEXA were changed from GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800; MONDO:0010100
Lysosomal Storage Disorder v0.125 HEXA Zornitza Stark Marked gene: HEXA as ready
Lysosomal Storage Disorder v0.125 HEXA Zornitza Stark Gene: hexa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.125 HEXA Zornitza Stark Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, MIM# 272800; Tay-Sachs disease, MIM# 272800; MONDO:0010100
Lysosomal Storage Disorder v0.124 HEXA Zornitza Stark Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.123 HEXA Zornitza Stark reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, MIM# 272800, Tay-Sachs disease, MIM# 272800, MONDO:0010100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3614 GUSB Zornitza Stark Marked gene: GUSB as ready
Intellectual disability syndromic and non-syndromic v0.3614 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3614 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Intellectual disability syndromic and non-syndromic v0.3613 GUSB Zornitza Stark Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3612 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7102 GUSB Zornitza Stark Marked gene: GUSB as ready
Mendeliome v0.7102 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Mendeliome v0.7102 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Mendeliome v0.7101 GUSB Zornitza Stark Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7100 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.123 GUSB Zornitza Stark Marked gene: GUSB as ready
Lysosomal Storage Disorder v0.123 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.123 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Lysosomal Storage Disorder v0.122 GUSB Zornitza Stark Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.121 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7100 GNS Zornitza Stark Marked gene: GNS as ready
Mendeliome v0.7100 GNS Zornitza Stark Gene: gns has been classified as Green List (High Evidence).
Mendeliome v0.7100 GNS Zornitza Stark Phenotypes for gene: GNS were changed from to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658
Mendeliome v0.7099 GNS Zornitza Stark Publications for gene: GNS were set to
Mendeliome v0.7098 GNS Zornitza Stark Mode of inheritance for gene: GNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7097 GNS Zornitza Stark reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.121 GNS Zornitza Stark Marked gene: GNS as ready
Lysosomal Storage Disorder v0.121 GNS Zornitza Stark Gene: gns has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.121 GNS Zornitza Stark Phenotypes for gene: GNS were changed from to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658
Lysosomal Storage Disorder v0.120 GNS Zornitza Stark Publications for gene: GNS were set to
Lysosomal Storage Disorder v0.119 GNS Zornitza Stark Mode of inheritance for gene: GNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.118 GNS Zornitza Stark reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3612 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Intellectual disability syndromic and non-syndromic v0.3612 GNPTG Zornitza Stark Gene: gnptg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3612 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652
Intellectual disability syndromic and non-syndromic v0.3611 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Intellectual disability syndromic and non-syndromic v0.3610 GNPTG Zornitza Stark Mode of inheritance for gene: GNPTG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3609 GNPTG Zornitza Stark reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764, 19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605, MONDO:0009652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7097 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Mendeliome v0.7097 GNPTG Zornitza Stark Gene: gnptg has been classified as Green List (High Evidence).
Mendeliome v0.7097 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652
Mendeliome v0.7096 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Mendeliome v0.7095 GNPTG Zornitza Stark Mode of inheritance for gene: GNPTG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7094 GNPTG Zornitza Stark reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764, 19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605, MONDO:0009652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.118 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Lysosomal Storage Disorder v0.118 GNPTG Zornitza Stark Gene: gnptg has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.118 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652
Lysosomal Storage Disorder v0.117 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Lysosomal Storage Disorder v0.116 GNPTG Zornitza Stark Mode of inheritance for gene: GNPTG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.115 GNPTG Zornitza Stark reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764, 19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605, MONDO:0009652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7094 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Mendeliome v0.7094 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Mendeliome v0.7094 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370; CHARGE syndrome MIM#214800
Mendeliome v0.7093 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Mendeliome v0.7092 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.51 Zornitza Stark removed gene:CHD7 from the panel
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.49 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Review for gene: DHCR7 was set to GREEN
Added comment: Reports of HPE phenotype.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.54 OPN1LW Sarah Righetti reviewed gene: OPN1LW: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blue cone monochromacy, MIM#303700, Colorblindness, protan, MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.54 ABCA4 Sarah Righetti reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stargardt disease 1 MIM#248200, Retinal dystrophy, early-onset severe MIM#248200, Cone-rod dystrophy 3 MIM#604116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.54 ABCC6 Sarah Righetti edited their review of gene: ABCC6: Added comment: Decision to exclude gene from MM list on 01/04/21.

The gene-phenotype relationship is not easy to predict, and GACI Type 2 is extremely rare - ~1 in 4 million births. The majority of couples we detect with pathogenic variants in ABBC6 will be at increased risk for PXE which does not meet severity criteria for inclusion.

There are also technical issues caused by 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; Changed rating: RED; Changed phenotypes: Pseudoxanthoma elasticum MIM#264800, Arterial calcification, generalized, of infancy, 2 MIM#614473
Vascular Malformations_Somatic v1.4 GJA4 Bryony Thompson changed review comment from: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=5) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells.
Sources: Literature; to: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=3) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells.
Sources: Literature
Vascular Malformations_Somatic v1.4 GJA4 Bryony Thompson Classified gene: GJA4 as Green List (high evidence)
Vascular Malformations_Somatic v1.4 GJA4 Bryony Thompson Gene: gja4 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v1.3 GJA4 Bryony Thompson gene: GJA4 was added
gene: GJA4 was added to Vascular Malformations_Somatic. Sources: Literature
somatic tags were added to gene: GJA4.
Mode of inheritance for gene: GJA4 was set to Other
Publications for gene: GJA4 were set to https://doi.org/10.1016/j.xhgg.2021.100028
Phenotypes for gene: GJA4 were set to Cavernous hemangioma
Mode of pathogenicity for gene: GJA4 was set to Other
Review for gene: GJA4 was set to GREEN
Added comment: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=5) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells.
Sources: Literature
Mendeliome v0.7091 CHD7 Elena Savva reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26411921; Phenotypes: Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370, CHARGE syndrome MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mitochondrial disease v0.596 NDUFA12 Bryony Thompson Publications for gene: NDUFA12 were set to 21617257
Mitochondrial disease v0.595 NDUFA12 Bryony Thompson Classified gene: NDUFA12 as Green List (high evidence)
Mitochondrial disease v0.595 NDUFA12 Bryony Thompson Gene: ndufa12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.594 NDUFA12 Bryony Thompson reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 MIM#618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.100 ALDH1A2 Bryony Thompson Marked gene: ALDH1A2 as ready
Congenital Heart Defect v0.100 ALDH1A2 Bryony Thompson Gene: aldh1a2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.100 ALDH1A2 Bryony Thompson Classified gene: ALDH1A2 as Green List (high evidence)
Congenital Heart Defect v0.100 ALDH1A2 Bryony Thompson Gene: aldh1a2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.99 ALDH1A2 Bryony Thompson gene: ALDH1A2 was added
gene: ALDH1A2 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183; 10192400
Phenotypes for gene: ALDH1A2 were set to Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features
Review for gene: ALDH1A2 was set to GREEN
Added comment: Two families, an Australian family with segregation of biallelic variants and an unrelated Italian proband with biallelic variants with similar phenotypes. Functional assays suggest the variants in the 2 families are hypomorphic. Knockout mouse model is embryonic lethal due utero defects in early heart morphogenesis.
Sources: Literature
Mendeliome v0.7091 ALDH1A2 Bryony Thompson Phenotypes for gene: ALDH1A2 were changed from to congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features
Mendeliome v0.7090 NDUFA12 Bryony Thompson Publications for gene: NDUFA12 were set to 21617257
Mendeliome v0.7089 NDUFA12 Bryony Thompson Classified gene: NDUFA12 as Green List (high evidence)
Mendeliome v0.7089 NDUFA12 Bryony Thompson Gene: ndufa12 has been classified as Green List (High Evidence).
Mendeliome v0.7088 NDUFA12 Bryony Thompson reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 MIM#618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7088 ALDH1A2 Bryony Thompson Marked gene: ALDH1A2 as ready
Mendeliome v0.7088 ALDH1A2 Bryony Thompson Gene: aldh1a2 has been classified as Green List (High Evidence).
Mendeliome v0.7088 ALDH1A2 Bryony Thompson Publications for gene: ALDH1A2 were set to
Mendeliome v0.7087 ALDH1A2 Bryony Thompson Mode of inheritance for gene: ALDH1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7086 ALDH1A2 Bryony Thompson reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33565183, 10192400; Phenotypes: congenital heart defects, diaphragmatic eventration, pulmonary hypoplasia, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.115 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Lysosomal Storage Disorder v0.115 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.115 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from to Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931
Lysosomal Storage Disorder v0.114 GNPTAB Zornitza Stark Mode of inheritance for gene: GNPTAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.113 GNPTAB Zornitza Stark reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 16465621; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.211 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Additional findings_Paediatric v0.211 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.211 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly to Contractural arachnodactyly, congenital MIM#121050
Additional findings_Paediatric v0.210 FBN2 Zornitza Stark Publications for gene: FBN2 were set to
Additional findings_Paediatric v0.209 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.208 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v1.22 FBN2 Zornitza Stark Publications for gene: FBN2 were set to
Mendeliome v0.7086 MMP20 Bryony Thompson Marked gene: MMP20 as ready
Mendeliome v0.7086 MMP20 Bryony Thompson Gene: mmp20 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.21 FBN2 Zornitza Stark edited their review of gene: FBN2: Added comment: The association between mono-allelic variants in FBN2 and CCA is well established. Recent report of bi-allelic variants, Kloth (2021): biallelic FBN2 variants (PTC/missense) in a teenager with severe CCA, including cardiac defects, mild scoliosis and muscular involvement. Carrier parents both "healthy/unaffected". Phenotype matches mouse K/O. Authors performed a lit review and identified an additional 2 homozygous patients (both missense variants) with - fetal akinesia, brain ischemia and neonatal death - severe muscle weakness with bilateral clubfeet, a pronounced gait disturbance, recurrent patellar dislocations, flexion contractures, camptodactyly, widespread striae and an unusual myofibrillar disorganization, variation in fiber size and atrophic fibers in muscle biopsy.; Changed publications: 33571691
Aortopathy_Connective Tissue Disorders v1.21 FBN2 Zornitza Stark edited their review of gene: FBN2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v1.21 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.88 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Skeletal dysplasia v0.88 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.88 FBN2 Zornitza Stark Publications for gene: FBN2 were set to
Skeletal dysplasia v0.87 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.86 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7086 FBN2 Zornitza Stark Publications for gene: FBN2 were set to 19473076; 11068201; 27007659; 24899048
Mendeliome v0.7085 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7084 FBN2 Zornitza Stark edited their review of gene: FBN2: Added comment: The association between mono-allelic variants in FBN2 and CCA is well established. Recent report of bi-allelic variants, Kloth (2021): biallelic FBN2 variants (PTC/missense) in a teenager with severe CCA, including cardiac defects, mild scoliosis and muscular involvement. Carrier parents both "healthy/unaffected". Phenotype matches mouse K/O. Authors performed a lit review and identified an additional 2 homozygous patients (both missense variants) with - fetal akinesia, brain ischemia and neonatal death - severe muscle weakness with bilateral clubfeet, a pronounced gait disturbance, recurrent patellar dislocations, flexion contractures, camptodactyly, widespread striae and an unusual myofibrillar disorganization, variation in fiber size and atrophic fibers in muscle biopsy.

Evidence for association with Macular degeneration, early-onset MIM#616118 is limited. One family reported, plus some rare variants reported in cohort studies. The familial variant p.Glu1144Lys is present in 11 hets in gnomad and has benign in silicos. The second variant reported in the paper, p.Met1247Thr is present in >20 hets.; Changed rating: GREEN; Changed publications: 33571691; Changed phenotypes: Contractural arachnodactyly, congenital MIM#121050, Macular degeneration, early-onset MIM#616118; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7084 MMP20 Bryony Thompson Phenotypes for gene: MMP20 were changed from to Amelogenesis imperfecta, type IIA2 MIM#612529
Mendeliome v0.7083 MMP20 Bryony Thompson Publications for gene: MMP20 were set to
Mendeliome v0.7082 MMP20 Bryony Thompson Mode of inheritance for gene: MMP20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7081 MMP20 Bryony Thompson reviewed gene: MMP20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15744043, 33600052; Phenotypes: Amelogenesis imperfecta, type IIA2 MIM#612529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Arthrogryposis v0.262 FBN2 Zornitza Stark Publications for gene: FBN2 were set to
Arthrogryposis v0.261 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Marked gene: NDUFB7 as ready
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Classified gene: NDUFB7 as Amber List (moderate evidence)
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.593 NDUFB7 Bryony Thompson gene: NDUFB7 was added
gene: NDUFB7 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047; 27626371
Phenotypes for gene: NDUFB7 were set to Congenital lactic acidosis; hypertrophic cardiomyopathy
Review for gene: NDUFB7 was set to AMBER
Added comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly.
Sources: Literature
Mendeliome v0.7081 NDUFB7 Bryony Thompson Marked gene: NDUFB7 as ready
Mendeliome v0.7081 NDUFB7 Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7081 NDUFB7 Bryony Thompson Classified gene: NDUFB7 as Amber List (moderate evidence)
Mendeliome v0.7081 NDUFB7 Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7080 NDUFB7 Bryony Thompson gene: NDUFB7 was added
gene: NDUFB7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047; 27626371
Phenotypes for gene: NDUFB7 were set to Congenital lactic acidosis; hypertrophic cardiomyopathy
Review for gene: NDUFB7 was set to AMBER
Added comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly.
Sources: Literature
Pancreatitis v1.3 CELA3B Bryony Thompson Marked gene: CELA3B as ready
Pancreatitis v1.3 CELA3B Bryony Thompson Gene: cela3b has been classified as Amber List (Moderate Evidence).
Pancreatitis v1.3 CELA3B Bryony Thompson Classified gene: CELA3B as Amber List (moderate evidence)
Pancreatitis v1.3 CELA3B Bryony Thompson Gene: cela3b has been classified as Amber List (Moderate Evidence).
Pancreatitis v1.2 CELA3B Bryony Thompson gene: CELA3B was added
gene: CELA3B was added to Pancreatitis. Sources: Literature
Mode of inheritance for gene: CELA3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELA3B were set to 31369399; 33565216
Phenotypes for gene: CELA3B were set to Chronic pancreatitis
Mode of pathogenicity for gene: CELA3B was set to Other
Review for gene: CELA3B was set to AMBER
Added comment: PMID: 33565216 - p.Arg90Cys (c.268C>T) identified in a chronic pancreatitis (also diabetes and pancreatic adenocarcinoma present in some individuals) pedigree. Variant was present in 2 affected individuals and not present in 7 healthy relatives. Also, supporting in vitro functional assays demonstrating gain of function mechanism for R90C and R90L, and supporting mouse model. PMID: 31369399 - p.Arg90Leu (c.269G>T) identified in 4 French chronic pancreatitis cases and 0 controls. However, there are 229 hets in gnomAD v2.1 with this variant.
Sources: Literature
Mendeliome v0.7079 CELA3B Bryony Thompson Marked gene: CELA3B as ready
Mendeliome v0.7079 CELA3B Bryony Thompson Gene: cela3b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7079 CELA3B Bryony Thompson Classified gene: CELA3B as Amber List (moderate evidence)
Mendeliome v0.7079 CELA3B Bryony Thompson Gene: cela3b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7078 CDH11 Zornitza Stark Marked gene: CDH11 as ready
Mendeliome v0.7078 CDH11 Zornitza Stark Gene: cdh11 has been classified as Green List (High Evidence).
Mendeliome v0.7078 CDH11 Zornitza Stark Phenotypes for gene: CDH11 were changed from to Elsahy-Waters syndrome, MIM# 211380; Teebi hypertelorism syndrome
Mendeliome v0.7077 CDH11 Zornitza Stark Publications for gene: CDH11 were set to
Mendeliome v0.7076 CDH11 Zornitza Stark Mode of inheritance for gene: CDH11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7075 CDH11 Zornitza Stark reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811546, 27431290, 28988429, 29271567, 33811546; Phenotypes: Elsahy-Waters syndrome, MIM# 211380, Teebi hypertelorism syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7075 CELA3B Bryony Thompson gene: CELA3B was added
gene: CELA3B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CELA3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELA3B were set to 31369399; 33565216
Phenotypes for gene: CELA3B were set to Chronic pancreatitis
Mode of pathogenicity for gene: CELA3B was set to Other
Review for gene: CELA3B was set to AMBER
Added comment: PMID: 33565216 - p.Arg90Cys (c.268C>T) identified in a chronic pancreatitis (also diabetes and pancreatic adenocarcinoma present in some individuals) pedigree. Variant was present in 2 affected individuals and not present in 7 healthy relatives. Also, supporting in vitro functional assays demonstrating gain of function mechanism for R90C and R90L, and supporting mouse model.
PMID: 31369399 - p.Arg90Leu (c.269G>T) identified in 4 French chronic pancreatitis cases and 0 controls. However, there are 229 hets in gnomAD v2.1 with this variant.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3609 CDH11 Zornitza Stark Marked gene: CDH11 as ready
Intellectual disability syndromic and non-syndromic v0.3609 CDH11 Zornitza Stark Gene: cdh11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3609 CDH11 Zornitza Stark Phenotypes for gene: CDH11 were changed from to Elsahy-Waters syndrome, MIM# 211380; Teebi hypertelorism syndrome
Intellectual disability syndromic and non-syndromic v0.3608 CDH11 Zornitza Stark Publications for gene: CDH11 were set to
Intellectual disability syndromic and non-syndromic v0.3607 CDH11 Zornitza Stark Mode of inheritance for gene: CDH11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3606 CDH11 Zornitza Stark reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811546, 27431290, 28988429, 29271567; Phenotypes: Elsahy-Waters syndrome, MIM# 211380, Teebi hypertelorism syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7074 SLC10A1 Zornitza Stark Marked gene: SLC10A1 as ready
Mendeliome v0.7074 SLC10A1 Zornitza Stark Gene: slc10a1 has been classified as Green List (High Evidence).
Mendeliome v0.7074 SLC10A1 Zornitza Stark Classified gene: SLC10A1 as Green List (high evidence)
Mendeliome v0.7074 SLC10A1 Zornitza Stark Gene: slc10a1 has been classified as Green List (High Evidence).
Mendeliome v0.7073 SLC10A1 Zornitza Stark gene: SLC10A1 was added
gene: SLC10A1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC10A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A1 were set to 24867799; 27882152; 28835676; 29290974; 31201272
Phenotypes for gene: SLC10A1 were set to Familial hypercholanemia-2, MIM#619256
Review for gene: SLC10A1 was set to GREEN
Added comment: IEM characterised by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT). Some variants are recurrent (founder effect likely) but at least 3 different variants reported, mouse model.
Sources: Expert list
Miscellaneous Metabolic Disorders v1.5 SLC10A1 Zornitza Stark Marked gene: SLC10A1 as ready
Miscellaneous Metabolic Disorders v1.5 SLC10A1 Zornitza Stark Gene: slc10a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.5 SLC10A1 Zornitza Stark Classified gene: SLC10A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.5 SLC10A1 Zornitza Stark Gene: slc10a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.4 SLC10A1 Zornitza Stark gene: SLC10A1 was added
gene: SLC10A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC10A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A1 were set to 24867799; 27882152; 28835676; 29290974; 31201272
Phenotypes for gene: SLC10A1 were set to Familial hypercholanemia-2, MIM#619256
Review for gene: SLC10A1 was set to GREEN
Added comment: IEM characterised by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT).

Some variants are recurrent (founder effect likely) but at least 3 different variants reported, mouse model.
Sources: Expert list
Arthrogryposis v0.260 FBN2 Elena Savva reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050, Macular degeneration, early-onset MIM#616118; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3606 CDH11 Chirag Patel reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33811546; Phenotypes: Teebi hypertelorism syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.113 GLA Zornitza Stark Marked gene: GLA as ready
Lysosomal Storage Disorder v0.113 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.113 GLA Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease, MIM# 301500 to Fabry disease, MIM# 301500; MONDO:0010526
Lysosomal Storage Disorder v0.112 GLA Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500
Lysosomal Storage Disorder v0.111 GLA Zornitza Stark Publications for gene: GLA were set to
Lysosomal Storage Disorder v0.110 GLA Zornitza Stark Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lysosomal Storage Disorder v0.109 GLA Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28613767, 33673160; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lysosomal Storage Disorder v0.109 GBA Zornitza Stark Marked gene: GBA as ready
Lysosomal Storage Disorder v0.109 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.109 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal, MIM# 608013; Gaucher disease, type I, MIM# 230800; Gaucher disease, type II, MIM# 230900; Gaucher disease, type III, MIM# 231000; Gaucher disease, type IIIC, MIM# 231005
Lysosomal Storage Disorder v0.108 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.107 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal, MIM# 608013, Gaucher disease, type I, MIM# 230800, Gaucher disease, type II, MIM# 230900, Gaucher disease, type III, MIM# 231000, Gaucher disease, type IIIC, MIM# 231005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.107 GALNS Zornitza Stark Marked gene: GALNS as ready
Lysosomal Storage Disorder v0.107 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.107 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659
Mendeliome v0.7072 GALNS Zornitza Stark Marked gene: GALNS as ready
Mendeliome v0.7072 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Mendeliome v0.7072 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659
Mendeliome v0.7071 GALNS Zornitza Stark Publications for gene: GALNS were set to
Mendeliome v0.7070 GALNS Zornitza Stark Mode of inheritance for gene: GALNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7069 GALNS Zornitza Stark reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.106 GALNS Zornitza Stark Publications for gene: GALNS were set to
Lysosomal Storage Disorder v0.105 GALNS Zornitza Stark Mode of inheritance for gene: GALNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.104 GALNS Zornitza Stark reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7069 GALC Zornitza Stark Marked gene: GALC as ready
Mendeliome v0.7069 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Mendeliome v0.7069 GALC Zornitza Stark Phenotypes for gene: GALC were changed from to Krabbe disease, MIM# 245200; MONDO:0009499
Mendeliome v0.7068 GALC Zornitza Stark Publications for gene: GALC were set to
Mendeliome v0.7067 GALC Zornitza Stark Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7066 GALC Zornitza Stark reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.104 GALC Zornitza Stark Marked gene: GALC as ready
Lysosomal Storage Disorder v0.104 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.104 GALC Zornitza Stark Phenotypes for gene: GALC were changed from to Krabbe disease, MIM# 245200; MONDO:0009499
Lysosomal Storage Disorder v0.103 GALC Zornitza Stark Publications for gene: GALC were set to
Lysosomal Storage Disorder v0.102 GALC Zornitza Stark Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.101 GALC Zornitza Stark reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v1.1 GAA Zornitza Stark Phenotypes for gene: GAA were changed from Glycogen storage disease II (MIM#232300) to Glycogen storage disease II (MIM#232300); MONDO:0009290
Mendeliome v0.7066 GAA Zornitza Stark Phenotypes for gene: GAA were changed from Glycogen storage disease II, MIM# 232300 to Glycogen storage disease II, MIM# 232300; MONDO:0009290
Lysosomal Storage Disorder v0.101 GAA Zornitza Stark Marked gene: GAA as ready
Lysosomal Storage Disorder v0.101 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.101 GAA Zornitza Stark Phenotypes for gene: GAA were changed from to Glycogen storage disease II, MIM# 232300; MONDO:0009290
Lysosomal Storage Disorder v0.100 GAA Zornitza Stark Publications for gene: GAA were set to
Lysosomal Storage Disorder v0.99 GAA Zornitza Stark Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.98 GAA Zornitza Stark reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917947; Phenotypes: Glycogen storage disease II, MIM# 232300, MONDO:0009290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.285 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Regression v0.285 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Regression v0.285 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from to Fucosidosis, MIM# 230000; MONDO:0009254
Regression v0.284 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
Regression v0.283 FUCA1 Zornitza Stark Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.282 FUCA1 Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094192; Phenotypes: Fucosidosis, MIM# 230000, MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7065 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Mendeliome v0.7065 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Mendeliome v0.7065 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from to Fucosidosis, MIM# 230000; MONDO:0009254
Mendeliome v0.7064 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
Mendeliome v0.7063 FUCA1 Zornitza Stark Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7062 FUCA1 Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094192; Phenotypes: Fucosidosis, MIM# 230000, MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.98 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Lysosomal Storage Disorder v0.98 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.98 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from to Fucosidosis, MIM# 230000; MONDO:0009254
Lysosomal Storage Disorder v0.97 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
Lysosomal Storage Disorder v0.96 FUCA1 Zornitza Stark Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.95 FUCA1 Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094192; Phenotypes: Fucosidosis, MIM# 230000, MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.95 DNAJC5 Zornitza Stark Marked gene: DNAJC5 as ready
Lysosomal Storage Disorder v0.95 DNAJC5 Zornitza Stark Gene: dnajc5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.95 DNAJC5 Zornitza Stark Publications for gene: DNAJC5 were set to
Lysosomal Storage Disorder v0.94 DNAJC5 Zornitza Stark Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350; MONDO:0008083
Lysosomal Storage Disorder v0.93 DNAJC5 Zornitza Stark Mode of inheritance for gene: DNAJC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.92 DNAJC5 Zornitza Stark reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820099, 22073189, 22235333, 22978711; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7062 CTSD Zornitza Stark Marked gene: CTSD as ready
Mendeliome v0.7062 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Mendeliome v0.7062 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; MONDO:0012414
Mendeliome v0.7061 CTSD Zornitza Stark Publications for gene: CTSD were set to
Mendeliome v0.7060 CTSD Zornitza Stark Mode of inheritance for gene: CTSD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7059 CTSD Zornitza Stark reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685649, 16670177, 25298308, 33681191, 29284168, 27072142; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127, MONDO:0012414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.92 CTSD Zornitza Stark Marked gene: CTSD as ready
Lysosomal Storage Disorder v0.92 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.92 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; MONDO:0012414
Lysosomal Storage Disorder v0.91 CTSD Zornitza Stark Publications for gene: CTSD were set to
Lysosomal Storage Disorder v0.90 CTSD Zornitza Stark Mode of inheritance for gene: CTSD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.89 CTSD Zornitza Stark reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685649, 16670177, 25298308, 33681191, 29284168, 27072142; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127, MONDO:0012414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.89 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Lysosomal Storage Disorder v0.89 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.89 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Lysosomal Storage Disorder v0.88 CLN8 Zornitza Stark Publications for gene: CLN8 were set to
Lysosomal Storage Disorder v0.87 CLN8 Zornitza Stark Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.86 CLN8 Zornitza Stark Tag founder tag was added to gene: CLN8.
Lysosomal Storage Disorder v0.86 CLN8 Zornitza Stark reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508524, 15024724, 16570191; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.86 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Lysosomal Storage Disorder v0.86 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.86 CLN6 Zornitza Stark Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Lysosomal Storage Disorder v0.85 CLN6 Zornitza Stark Publications for gene: CLN6 were set to
Lysosomal Storage Disorder v0.84 CLN6 Zornitza Stark Mode of inheritance for gene: CLN6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.83 CLN6 Zornitza Stark reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11791207, 11727201, 21549341; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.5 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Hereditary Spastic Paraplegia v1.5 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.5 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v1.5 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.4 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC88C were set to 33602173
Phenotypes for gene: CCDC88C were set to Early-onset pure hereditary spastic paraplegia
Review for gene: CCDC88C was set to AMBER
Added comment: Heterozygous missense variant (gnomad: 1 het) reported in a 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. In contrast to previous reports, she developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. Functional studies showed the varaint induced JNK hyper-phosphorylation and enhanced apoptosis. 4 unaffected family members did not have the variant.

Gene has been linked to other neurological phenotypes: mono-allelic variants to SCA, and bi-allelic variants to ID.
Sources: Literature
Mendeliome v0.7059 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600; Eearly-onset pure hereditary spastic paraplegia to Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600; Early-onset pure hereditary spastic paraplegia
Mendeliome v0.7058 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR to Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600; Eearly-onset pure hereditary spastic paraplegia
Mendeliome v0.7057 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to 23042809; 21031079; 25062847; 30398676
Mendeliome v0.7056 CCDC88C Paul De Fazio changed review comment from: Heterozygous missense variant (gnomad: 1 het) reported in a 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. In contrast to previous reports, she developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. Functional studies showed the varaint induced JNK hyper-phosphorylation and enhanced apoptosis. 4 unaffected family members did not have the variant.

This phenotype appears to be sufficiently dissimilar to the 2 previously reported SCA families to not constitute a 3rd supporting report in that context.; to: Heterozygous missense variant (gnomad: 1 het) reported in a 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. In contrast to previous reports, she developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. Functional studies showed the varaint induced JNK hyper-phosphorylation and enhanced apoptosis. 4 unaffected family members did not have the variant.

NB: Rated Amber as this phenotype appears to be sufficiently dissimilar to the 2 previously reported SCA families to not constitute a 3rd supporting report in that context. Gene remains Green for the AR ID phenotype.
Mendeliome v0.7056 CCDC88C Paul De Fazio edited their review of gene: CCDC88C: Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7056 CCDC88C Paul De Fazio reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 33602173; Phenotypes: Eearly-onset pure hereditary spastic paraplegia; Mode of inheritance: None; Current diagnostic: yes
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Marked gene: NMNAT1 as ready
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Tag SV/CNV tag was added to gene: NMNAT1.
Tag founder tag was added to gene: NMNAT1.
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Classified gene: NMNAT1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.64 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.63 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 32533184; 33668384
Phenotypes for gene: NMNAT1 were set to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
Review for gene: NMNAT1 was set to AMBER
Added comment: Three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3606 NMNAT1 Zornitza Stark edited their review of gene: NMNAT1: Changed phenotypes: Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
Intellectual disability syndromic and non-syndromic v0.3606 NMNAT1 Zornitza Stark Phenotypes for gene: NMNAT1 were changed from Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260; Leber congenital amaurosis 9, MIM# 608553 to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
Intellectual disability syndromic and non-syndromic v0.3605 NMNAT1 Zornitza Stark Marked gene: NMNAT1 as ready
Intellectual disability syndromic and non-syndromic v0.3605 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3605 NMNAT1 Zornitza Stark Classified gene: NMNAT1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3605 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3604 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
SV/CNV, founder tags were added to gene: NMNAT1.
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 32533184; 33668384
Phenotypes for gene: NMNAT1 were set to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260; Leber congenital amaurosis 9, MIM# 608553
Review for gene: NMNAT1 was set to AMBER
Added comment: Three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant.

Note bi-allelic variants in this gene are associated with non-syndromic LCA, multiple families.
Sources: Literature
Mendeliome v0.7056 NMNAT1 Zornitza Stark Mode of inheritance for gene: NMNAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7055 NMNAT1 Zornitza Stark Phenotypes for gene: NMNAT1 were changed from to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260; Leber congenital amaurosis 9, MIM# 608553
Mendeliome v0.7054 NMNAT1 Zornitza Stark Publications for gene: NMNAT1 were set to
Mendeliome v0.7053 NMNAT1 Zornitza Stark Tag SV/CNV tag was added to gene: NMNAT1.
Tag founder tag was added to gene: NMNAT1.
Mendeliome v0.7053 NMNAT1 Zornitza Stark Marked gene: NMNAT1 as ready
Mendeliome v0.7053 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Green List (High Evidence).
Mendeliome v0.7053 NMNAT1 Zornitza Stark reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32533184, 33668384, 22842230, 22842229; Phenotypes: Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260, Leber congenital amaurosis 9, MIM# 608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.260 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210 to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143
Arthrogryposis v0.259 ZMPSTE24 Zornitza Stark edited their review of gene: ZMPSTE24: Changed phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074, Restrictive dermopathy, lethal, MIM# 275210, MONDO:0010143
Mendeliome v0.7053 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210 to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143
Lipodystrophy_Lipoatrophy v0.28 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Lipodystrophy_Lipoatrophy v0.28 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.28 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074
Lipodystrophy_Lipoatrophy v0.27 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Lipodystrophy_Lipoatrophy v0.26 ZMPSTE24 Zornitza Stark Mode of inheritance for gene: ZMPSTE24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.25 ZMPSTE24 Zornitza Stark edited their review of gene: ZMPSTE24: Changed publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998
Lipodystrophy_Lipoatrophy v0.25 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.259 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Arthrogryposis v0.259 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Arthrogryposis v0.259 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210
Arthrogryposis v0.258 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Arthrogryposis v0.257 ZMPSTE24 Zornitza Stark Mode of inheritance for gene: ZMPSTE24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.256 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638, 15937076, 16671095, 22718200, 29794150, 24169522; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074, Restrictive dermopathy, lethal, MIM# 275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7052 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Mendeliome v0.7052 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Mendeliome v0.7052 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210
Mendeliome v0.7051 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Mendeliome v0.7050 ZMPSTE24 Zornitza Stark Mode of inheritance for gene: ZMPSTE24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7049 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638, 15937076, 16671095, 22718200, 29794150, 24169522; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074, Restrictive dermopathy, lethal, MIM# 275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.190 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Polydactyly v0.190 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Polydactyly v0.190 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from to Cranioectodermal dysplasia 2, MIM#613610; MONDO:0013323; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569
Polydactyly v0.189 WDR35 Zornitza Stark Publications for gene: WDR35 were set to
Polydactyly v0.188 WDR35 Zornitza Stark reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2, MIM#613610, MONDO:0013323, Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.60 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Skeletal Ciliopathies v0.60 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.60 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from to Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569
Skeletal Ciliopathies v0.59 WDR35 Zornitza Stark Publications for gene: WDR35 were set to
Skeletal Ciliopathies v0.58 WDR35 Zornitza Stark Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.57 WDR35 Zornitza Stark reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 21473986; Phenotypes: Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7049 WDR35 Zornitza Stark reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2, MIM#613610, MONDO:0013323, Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.272 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Ciliopathies v0.272 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Ciliopathies v0.272 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from to Cranioectodermal dysplasia 2, MIM#613610; MONDO:0013323; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569
Ciliopathies v0.271 WDR35 Zornitza Stark Publications for gene: WDR35 were set to
Ciliopathies v0.270 WDR35 Zornitza Stark Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.269 WDR35 Zornitza Stark reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2, MIM#613610, MONDO:0013323, Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7049 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from Cranioectodermal dysplasia 2, MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091 to Cranioectodermal dysplasia 2, MIM#613610; MONDO:0013323; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569
Mandibulofacial Acrofacial dysostosis v0.37 EDNRA Zornitza Stark Marked gene: EDNRA as ready
Mandibulofacial Acrofacial dysostosis v0.37 EDNRA Zornitza Stark Gene: ednra has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.37 EDNRA Zornitza Stark Phenotypes for gene: EDNRA were changed from to Mandibulofacial dysostosis with alopecia, MIM# 616367
Mandibulofacial Acrofacial dysostosis v0.36 EDNRA Zornitza Stark Publications for gene: EDNRA were set to
Mandibulofacial Acrofacial dysostosis v0.35 EDNRA Zornitza Stark Mode of inheritance for gene: EDNRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.34 EDNRA Zornitza Stark reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7048 EDN1 Zornitza Stark Marked gene: EDN1 as ready
Mendeliome v0.7048 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7048 EDN1 Zornitza Stark Phenotypes for gene: EDN1 were changed from to Auriculocondylar syndrome 3, MIM# 615706
Mendeliome v0.7047 EDN1 Zornitza Stark Publications for gene: EDN1 were set to
Mendeliome v0.7046 EDN1 Zornitza Stark Mode of inheritance for gene: EDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7045 EDN1 Zornitza Stark Classified gene: EDN1 as Amber List (moderate evidence)
Mendeliome v0.7045 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7044 EDN1 Zornitza Stark reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23315542, 23913798, 24268655; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.34 EDN1 Zornitza Stark Phenotypes for gene: EDN1 were changed from to Auriculocondylar syndrome 3, MIM# 615706
Pierre Robin Sequence v0.28 EDN1 Zornitza Stark Marked gene: EDN1 as ready
Pierre Robin Sequence v0.28 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.28 EDN1 Zornitza Stark Phenotypes for gene: EDN1 were changed from to Auriculocondylar syndrome 3, MIM# 615706
Pierre Robin Sequence v0.27 EDN1 Zornitza Stark Publications for gene: EDN1 were set to
Pierre Robin Sequence v0.26 EDN1 Zornitza Stark Mode of inheritance for gene: EDN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.25 EDN1 Zornitza Stark Mode of inheritance for gene: EDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.25 EDN1 Zornitza Stark Classified gene: EDN1 as Amber List (moderate evidence)
Pierre Robin Sequence v0.25 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Mandibulofacial Acrofacial dysostosis v0.33 EDN1 Zornitza Stark Publications for gene: EDN1 were set to 23315542; 23913798; 24268655
Mandibulofacial Acrofacial dysostosis v0.33 EDN1 Zornitza Stark Publications for gene: EDN1 were set to
Pierre Robin Sequence v0.24 EDN1 Zornitza Stark reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23315542, 23913798, 24268655; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.32 EDN1 Zornitza Stark Mode of inheritance for gene: EDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.31 EDN1 Zornitza Stark Classified gene: EDN1 as Amber List (moderate evidence)
Mandibulofacial Acrofacial dysostosis v0.31 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Mandibulofacial Acrofacial dysostosis v0.30 EDN1 Zornitza Stark reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23315542, 23913798, 24268655; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.30 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Intellectual disability syndromic and non-syndromic v0.3603 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Intellectual disability syndromic and non-syndromic v0.3603 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3603 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745
Intellectual disability syndromic and non-syndromic v0.3602 CLN5 Zornitza Stark Publications for gene: CLN5 were set to
Intellectual disability syndromic and non-syndromic v0.3601 CLN5 Zornitza Stark Mode of inheritance for gene: CLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3600 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20157158; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7044 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Mendeliome v0.7044 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Mendeliome v0.7044 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745
Mendeliome v0.7043 CLN5 Zornitza Stark Publications for gene: CLN5 were set to
Mendeliome v0.7042 CLN5 Zornitza Stark Mode of inheritance for gene: CLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7041 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20157158; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.83 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Lysosomal Storage Disorder v0.83 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.83 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745
Lysosomal Storage Disorder v0.82 CLN5 Zornitza Stark Publications for gene: CLN5 were set to
Lysosomal Storage Disorder v0.81 CLN5 Zornitza Stark Mode of inheritance for gene: CLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.80 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20157158; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7041 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Mendeliome v0.7041 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Mendeliome v0.7041 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Mendeliome v0.7040 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Mendeliome v0.7039 CLN3 Zornitza Stark Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7038 CLN3 Zornitza Stark reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200, MONDO:0008767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.80 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Lysosomal Storage Disorder v0.79 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Lysosomal Storage Disorder v0.79 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.79 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
Lysosomal Storage Disorder v0.78 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Lysosomal Storage Disorder v0.77 CLN3 Zornitza Stark Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.76 CLN3 Zornitza Stark reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.76 ARSB Zornitza Stark Marked gene: ARSB as ready
Lysosomal Storage Disorder v0.76 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3600 ARSB Zornitza Stark Marked gene: ARSB as ready
Intellectual disability syndromic and non-syndromic v0.3600 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3600 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Intellectual disability syndromic and non-syndromic v0.3599 ARSB Zornitza Stark Publications for gene: ARSB were set to
Intellectual disability syndromic and non-syndromic v0.3598 ARSB Zornitza Stark Mode of inheritance for gene: ARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3597 ARSB Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 11668612; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200, MONDO:0009661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.76 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Mendeliome v0.7038 ARSB Zornitza Stark Marked gene: ARSB as ready
Mendeliome v0.7038 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Mendeliome v0.7038 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Mendeliome v0.7037 ARSB Zornitza Stark Publications for gene: ARSB were set to
Mendeliome v0.7036 ARSB Zornitza Stark Mode of inheritance for gene: ARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7035 ARSB Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 11668612; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200, MONDO:0009661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.75 ARSB Zornitza Stark Publications for gene: ARSB were set to
Lysosomal Storage Disorder v0.74 ARSB Zornitza Stark Mode of inheritance for gene: ARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.73 ARSB Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 11668612; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200, MONDO:0009661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.73 ARSA Zornitza Stark Marked gene: ARSA as ready
Lysosomal Storage Disorder v0.73 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.73 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100; MONDO:0009591
Lysosomal Storage Disorder v0.72 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.71 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100, MONDO:0009591; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.62 AGA Zornitza Stark Marked gene: AGA as ready
Macrocephaly_Megalencephaly v0.62 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.62 AGA Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830
Macrocephaly_Megalencephaly v0.61 AGA Zornitza Stark Publications for gene: AGA were set to
Macrocephaly_Megalencephaly v0.60 AGA Zornitza Stark Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.59 AGA Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400, MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7035 AGA Zornitza Stark Marked gene: AGA as ready
Mendeliome v0.7035 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Mendeliome v0.7035 AGA Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830
Mendeliome v0.7034 AGA Zornitza Stark Publications for gene: AGA were set to
Mendeliome v0.7033 AGA Zornitza Stark Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7032 AGA Zornitza Stark edited their review of gene: AGA: Added comment: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. Multiple families and mouse model.; Changed publications: 1703489, 1904874, 8064811, 8946839; Changed phenotypes: Aspartylglucosaminuria, MIM# 208400, MONDO:0008830
Lysosomal Storage Disorder v0.71 AGA Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria, MIM# 208400 to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830
Lysosomal Storage Disorder v0.70 AGA Zornitza Stark Marked gene: AGA as ready
Lysosomal Storage Disorder v0.70 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.70 AGA Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400
Lysosomal Storage Disorder v0.69 AGA Zornitza Stark Publications for gene: AGA were set to
Lysosomal Storage Disorder v0.68 AGA Zornitza Stark Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.67 AGA Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.282 ATCAY Zornitza Stark Marked gene: ATCAY as ready
Regression v0.282 ATCAY Zornitza Stark Gene: atcay has been classified as Red List (Low Evidence).
Regression v0.282 ATCAY Zornitza Stark Phenotypes for gene: ATCAY were changed from to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025
Regression v0.281 ATCAY Zornitza Stark Publications for gene: ATCAY were set to
Regression v0.280 ATCAY Zornitza Stark Mode of inheritance for gene: ATCAY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.279 ATCAY Zornitza Stark Classified gene: ATCAY as Red List (low evidence)
Regression v0.279 ATCAY Zornitza Stark Gene: atcay has been classified as Red List (Low Evidence).
Regression v0.278 ATCAY Zornitza Stark reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: None; Publications: 29449188, 23226316, 26343454, 14556008; Phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238, MONDO:0011025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7032 ATCAY Zornitza Stark Marked gene: ATCAY as ready
Mendeliome v0.7032 ATCAY Zornitza Stark Gene: atcay has been classified as Green List (High Evidence).
Mendeliome v0.7032 ATCAY Zornitza Stark Phenotypes for gene: ATCAY were changed from to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025
Mendeliome v0.7031 ATCAY Zornitza Stark Publications for gene: ATCAY were set to
Mendeliome v0.7030 ATCAY Zornitza Stark Mode of inheritance for gene: ATCAY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7029 ATCAY Zornitza Stark edited their review of gene: ATCAY: Added comment: Report of a variant c.599_605del, p.Pro200Profs*20 (PMID 29449188), which is in addition to the previously reported linked variants in the Cayman population (c.965+3G > T & p.S301R)(PMID 29449188). Mouse and zebra fish models share phenotypic features with humans with Ataxia, cerebellar, Cayman type (OMIM:601238)(PMID 14556008; 26343454).; Changed rating: GREEN; Changed publications: 14556008, 29449188, 23226316, 26343454; Changed phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238, MONDO:0011025
Ataxia v0.277 ATCAY Zornitza Stark Phenotypes for gene: ATCAY were changed from Ataxia, cerebellar, Cayman type, MIM# 601238 to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025
Ataxia v0.276 ATCAY Zornitza Stark Publications for gene: ATCAY were set to 14556008
Ataxia v0.275 ATCAY Zornitza Stark Classified gene: ATCAY as Green List (high evidence)
Ataxia v0.275 ATCAY Zornitza Stark Gene: atcay has been classified as Green List (High Evidence).
Microcephaly v1.1 COPB1 Zornitza Stark Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts
Intellectual disability syndromic and non-syndromic v0.3597 COPB1 Zornitza Stark Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts
Intellectual disability syndromic and non-syndromic v0.3596 COPB1 Zornitza Stark edited their review of gene: COPB1: Changed phenotypes: Baralle-Macken syndrome, MIM# 619255, Severe intellectual disability, variable microcephaly, cataracts
Microcephaly v1.0 COPB1 Zornitza Stark edited their review of gene: COPB1: Changed phenotypes: Baralle-Macken syndrome, MIM# 619255, Severe intellectual disability, variable microcephaly, cataracts
Mendeliome v0.7029 COPB1 Zornitza Stark Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts
Mendeliome v0.7028 COPB1 Zornitza Stark edited their review of gene: COPB1: Changed phenotypes: Baralle-Macken syndrome, MIM# 619255, Severe intellectual disability, variable microcephaly, cataracts
Cataract v0.269 COPB1 Zornitza Stark Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts
Cataract v0.268 COPB1 Zornitza Stark edited their review of gene: COPB1: Changed phenotypes: Baralle-Macken syndrome, MIM# 619255, Severe intellectual disability, variable microcephaly, cataracts
Mendeliome v0.7028 ARAP3 Zornitza Stark Marked gene: ARAP3 as ready
Mendeliome v0.7028 ARAP3 Zornitza Stark Gene: arap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7028 ARAP3 Zornitza Stark Classified gene: ARAP3 as Amber List (moderate evidence)
Mendeliome v0.7028 ARAP3 Zornitza Stark Gene: arap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7027 ARAP3 Zornitza Stark gene: ARAP3 was added
gene: ARAP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARAP3 were set to 32908855
Phenotypes for gene: ARAP3 were set to Lymphoedema
Review for gene: ARAP3 was set to AMBER
Added comment: Three unrelated families reported with rare missense variants in this gene as part of a lymphoedema cohort. However, incomplete information regarding segregation and no supporting functional data.
Sources: Literature
Mendeliome v0.7026 RORC Zornitza Stark changed review comment from: Association with lymphoedema: Two individuals reported with LoF variants as part of a large cohort. Note gene is depleted for LoF in gnomad, and bi-allelic variants have been associated with immunodeficiency.; to: Association with lymphoedema: Two individuals reported with LoF variants as part of a large cohort. Note gene is depleted for LoF in gnomad, and bi-allelic variants have been associated with immunodeficiency. Moderate evidence for gene-disease association.
Mendeliome v0.7026 RORC Zornitza Stark edited their review of gene: RORC: Added comment: Association with lymphoedema: Two individuals reported with LoF variants as part of a large cohort. Note gene is depleted for LoF in gnomad, and bi-allelic variants have been associated with immunodeficiency.; Changed publications: 26160376, 32960152; Changed phenotypes: Immunodeficiency 42, MIM# 616622, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710, Lymphoedema; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7026 RORC Zornitza Stark Marked gene: RORC as ready
Mendeliome v0.7026 RORC Zornitza Stark Gene: rorc has been classified as Green List (High Evidence).
Mendeliome v0.7026 RORC Zornitza Stark Phenotypes for gene: RORC were changed from to Immunodeficiency 42, MIM# 616622; Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710
Mendeliome v0.7025 RORC Zornitza Stark Publications for gene: RORC were set to
Mendeliome v0.7024 RORC Zornitza Stark Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7023 RORC Zornitza Stark reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376; Phenotypes: Immunodeficiency 42, MIM# 616622, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.274 ATCAY Sarah Leigh reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: 29449188, 23226316, 26343454; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.75 IL17RC Zornitza Stark Marked gene: IL17RC as ready
Defects of intrinsic and innate immunity v0.75 IL17RC Zornitza Stark Gene: il17rc has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.75 IL17RC Zornitza Stark Phenotypes for gene: IL17RC were changed from to Candidiasis, familial, 9, MIM# 616445; MONDO:0014642
Defects of intrinsic and innate immunity v0.74 IL17RC Zornitza Stark Publications for gene: IL17RC were set to
Defects of intrinsic and innate immunity v0.73 IL17RC Zornitza Stark Mode of inheritance for gene: IL17RC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.72 IL17RC Zornitza Stark reviewed gene: IL17RC: Rating: GREEN; Mode of pathogenicity: None; Publications: 25918342; Phenotypes: Candidiasis, familial, 9, MIM# 616445, MONDO:0014642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7023 IL17RC Zornitza Stark Marked gene: IL17RC as ready
Mendeliome v0.7023 IL17RC Zornitza Stark Gene: il17rc has been classified as Green List (High Evidence).
Mendeliome v0.7023 IL17RC Zornitza Stark Phenotypes for gene: IL17RC were changed from to Candidiasis, familial, 9, MIM# 616445; MONDO:0014642
Mendeliome v0.7022 IL17RC Zornitza Stark Publications for gene: IL17RC were set to
Mendeliome v0.7021 IL17RC Zornitza Stark Mode of inheritance for gene: IL17RC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7020 IL17RC Zornitza Stark reviewed gene: IL17RC: Rating: GREEN; Mode of pathogenicity: None; Publications: 25918342; Phenotypes: Candidiasis, familial, 9, MIM# 616445, MONDO:0014642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.72 IL17RA Zornitza Stark Marked gene: IL17RA as ready
Defects of intrinsic and innate immunity v0.72 IL17RA Zornitza Stark Gene: il17ra has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.72 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from to Immunodeficiency 51, MIM# 613953; MONDO:0013500
Defects of intrinsic and innate immunity v0.71 IL17RA Zornitza Stark Publications for gene: IL17RA were set to
Defects of intrinsic and innate immunity v0.70 IL17RA Zornitza Stark Mode of inheritance for gene: IL17RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.69 IL17RA Zornitza Stark reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21350122, 27930337; Phenotypes: Immunodeficiency 51, MIM# 613953, MONDO:0013500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7020 IL17RA Zornitza Stark Publications for gene: IL17RA were set to
Mendeliome v0.7019 IL17RA Zornitza Stark Mode of inheritance for gene: IL17RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7018 IL17RA Zornitza Stark Marked gene: IL17RA as ready
Mendeliome v0.7018 IL17RA Zornitza Stark Gene: il17ra has been classified as Green List (High Evidence).
Mendeliome v0.7018 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from to Immunodeficiency 51, MIM# 613953; MONDO:0013500
Mendeliome v0.7017 IL17RA Zornitza Stark reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21350122, 27930337; Phenotypes: Immunodeficiency 51, MIM# 613953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.69 CARD9 Zornitza Stark Marked gene: CARD9 as ready
Defects of intrinsic and innate immunity v0.69 CARD9 Zornitza Stark Gene: card9 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.69 CARD9 Zornitza Stark Phenotypes for gene: CARD9 were changed from to Candidiasis, familial, 2, autosomal recessive, MIM# 212050; Predisposition to invasive fungal disease, MONDO:0008905
Defects of intrinsic and innate immunity v0.68 CARD9 Zornitza Stark Publications for gene: CARD9 were set to
Defects of intrinsic and innate immunity v0.67 CARD9 Zornitza Stark Mode of inheritance for gene: CARD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.66 CARD9 Zornitza Stark reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19864672, 23335372, 24131138, 33789983, 33558980, 33180249; Phenotypes: Candidiasis, familial, 2, autosomal recessive, MIM# 212050, Predisposition to invasive fungal disease, MONDO:0008905; Mode of inheritance: None
Mendeliome v0.7017 CARD9 Zornitza Stark Marked gene: CARD9 as ready
Mendeliome v0.7017 CARD9 Zornitza Stark Gene: card9 has been classified as Green List (High Evidence).
Mendeliome v0.7017 CARD9 Zornitza Stark Phenotypes for gene: CARD9 were changed from to Candidiasis, familial, 2, autosomal recessive, MIM# 212050; Predisposition to invasive fungal disease, MONDO:0008905
Mendeliome v0.7016 CARD9 Zornitza Stark Publications for gene: CARD9 were set to
Mendeliome v0.7015 CARD9 Zornitza Stark Mode of inheritance for gene: CARD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7014 CARD9 Zornitza Stark reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19864672, 23335372, 24131138, 33789983, 33558980, 33180249; Phenotypes: Candidiasis, familial, 2, autosomal recessive, MIM# 212050, Predisposition to invasive fungal disease, MONDO:0008905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v1.0 Zornitza Stark promoted panel to version 1.0
Hypercalcaemia v0.38 SLC34A1 Zornitza Stark Marked gene: SLC34A1 as ready
Hypercalcaemia v0.38 SLC34A1 Zornitza Stark Gene: slc34a1 has been classified as Green List (High Evidence).
Hypercalcaemia v0.38 SLC34A1 Zornitza Stark Phenotypes for gene: SLC34A1 were changed from to Hypercalcaemia, infantile, 2 MIM#616963
Hypercalcaemia v0.37 SLC34A1 Zornitza Stark Publications for gene: SLC34A1 were set to
Hypercalcaemia v0.36 SLC34A1 Zornitza Stark Mode of inheritance for gene: SLC34A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.35 SLC34A1 Zornitza Stark reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26047794, 33516786, 33099630, 32866123, 31188746, 30943683; Phenotypes: Hypercalcaemia, infantile, 2 MIM#616963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.35 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Hypercalcaemia v0.35 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hypercalcaemia v0.35 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from to Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400; MONDO:0007982
Hypercalcaemia v0.34 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Hypercalcaemia v0.33 PTH1R Zornitza Stark Mode of inheritance for gene: PTH1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.32 PTH1R Zornitza Stark reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 7701349, 29788189; Phenotypes: Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400, MONDO:0007982; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.32 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Hypercalcaemia v0.32 GNA11 Zornitza Stark Gene: gna11 has been classified as Green List (High Evidence).
Hypercalcaemia v0.32 GNA11 Zornitza Stark Phenotypes for gene: GNA11 were changed from to Hypocalciuric hypercalcaemia, type II, MIM# 145981; MONDO:0007792
Hypercalcaemia v0.31 GNA11 Zornitza Stark Publications for gene: GNA11 were set to
Hypercalcaemia v0.30 GNA11 Zornitza Stark Mode of inheritance for gene: GNA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.29 GNA11 Zornitza Stark reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23802516, 28833550, 27913609; Phenotypes: Hypocalciuric hypercalcaemia, type II, MIM# 145981, MONDO:0007792; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.29 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Hypercalcaemia v0.29 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.31 CYP24A1 Zornitza Stark Marked gene: CYP24A1 as ready
Calcium and Phosphate disorders v0.31 CYP24A1 Zornitza Stark Gene: cyp24a1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.31 CYP24A1 Zornitza Stark Phenotypes for gene: CYP24A1 were changed from to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739
Calcium and Phosphate disorders v0.30 CYP24A1 Zornitza Stark Publications for gene: CYP24A1 were set to
Calcium and Phosphate disorders v0.29 CYP24A1 Zornitza Stark Mode of inheritance for gene: CYP24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.28 CYP24A1 Zornitza Stark reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21675912, 22047572, 33516786, 33186763, 32866123, 32743688; Phenotypes: Hypercalcaemia, infantile, 1, MIM# 143880, MONDO:0020739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7014 CYP24A1 Zornitza Stark Marked gene: CYP24A1 as ready
Mendeliome v0.7014 CYP24A1 Zornitza Stark Gene: cyp24a1 has been classified as Green List (High Evidence).
Mendeliome v0.7014 CYP24A1 Zornitza Stark Phenotypes for gene: CYP24A1 were changed from to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739
Mendeliome v0.7013 CYP24A1 Zornitza Stark Publications for gene: CYP24A1 were set to
Mendeliome v0.7012 CYP24A1 Zornitza Stark Mode of inheritance for gene: CYP24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7011 CYP24A1 Zornitza Stark reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21675912, 22047572, 33516786, 33186763, 32866123, 32743688; Phenotypes: Hypercalcaemia, infantile, 1, MIM# 143880, MONDO:0020739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.29 CYP24A1 Zornitza Stark Phenotypes for gene: CYP24A1 were changed from Hypercalcaemia, infantile, 1, MIM# 143880 to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739
Hypercalcaemia v0.28 CYP24A1 Zornitza Stark edited their review of gene: CYP24A1: Changed phenotypes: Hypercalcaemia, infantile, 1, MIM# 143880, MONDO:0020739
Hypercalcaemia v0.28 CYP24A1 Zornitza Stark Marked gene: CYP24A1 as ready
Hypercalcaemia v0.28 CYP24A1 Zornitza Stark Gene: cyp24a1 has been classified as Green List (High Evidence).
Hypercalcaemia v0.28 CYP24A1 Zornitza Stark Phenotypes for gene: CYP24A1 were changed from to Hypercalcaemia, infantile, 1, MIM# 143880
Hypercalcaemia v0.27 CYP24A1 Zornitza Stark Publications for gene: CYP24A1 were set to
Hypercalcaemia v0.26 CYP24A1 Zornitza Stark Mode of inheritance for gene: CYP24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.25 CYP24A1 Zornitza Stark reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21675912, 22047572, 33516786, 33186763, 32866123, 32743688; Phenotypes: Hypercalcaemia, infantile, 1, MIM# 143880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypercalcaemia v0.25 CDC73 Zornitza Stark Marked gene: CDC73 as ready
Hypercalcaemia v0.25 CDC73 Zornitza Stark Gene: cdc73 has been classified as Green List (High Evidence).
Hypercalcaemia v0.25 CDC73 Zornitza Stark Phenotypes for gene: CDC73 were changed from to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Hypercalcaemia v0.24 CDC73 Zornitza Stark Publications for gene: CDC73 were set to
Hypercalcaemia v0.23 CDC73 Zornitza Stark Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.22 CDC73 Zornitza Stark reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434154; Phenotypes: Hyperparathyroidism-jaw tumour syndrome, MIM# 145001, Hyperparathyroidism, familial primary, MIM# 145000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.22 CASR Zornitza Stark Marked gene: CASR as ready
Hypercalcaemia v0.22 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Hypercalcaemia v0.22 CASR Zornitza Stark Phenotypes for gene: CASR were changed from to Hypocalciuric hypercalcaemia, type I, MIM# 145980; Hyperparathyroidism, neonatal, MIM# 239200
Hypercalcaemia v0.21 CASR Zornitza Stark Publications for gene: CASR were set to
Hypercalcaemia v0.20 CASR Zornitza Stark Mode of inheritance for gene: CASR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypercalcaemia v0.19 CASR Zornitza Stark reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7916660, 7726161, 8675635, 17698911; Phenotypes: Hypocalciuric hypercalcaemia, type I, MIM# 145980, Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.28 AP2S1 Zornitza Stark Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926 to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926
Calcium and Phosphate disorders v0.27 AP2S1 Zornitza Stark edited their review of gene: AP2S1: Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926
Hypercalcaemia v0.19 AP2S1 Zornitza Stark Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926 to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926
Hypercalcaemia v0.18 AP2S1 Zornitza Stark edited their review of gene: AP2S1: Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926
Mendeliome v0.7011 AP2S1 Zornitza Stark edited their review of gene: AP2S1: Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926
Mendeliome v0.7011 AP2S1 Zornitza Stark Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III MIM#600740; Developmental disorder to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926; Developmental disorder
Mendeliome v0.7010 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to 33057194
Mendeliome v0.7009 AP2S1 Zornitza Stark reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222959, 33729479, 33168530, 3204769, 31723423, 29479578; Phenotypes: Hypocalciuric hypercalcemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.27 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Calcium and Phosphate disorders v0.27 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.27 AP2S1 Zornitza Stark Phenotypes for gene: AP2S1 were changed from to Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926
Hypercalcaemia v0.18 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Hypercalcaemia v0.18 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.26 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to
Calcium and Phosphate disorders v0.25 AP2S1 Zornitza Stark Mode of inheritance for gene: AP2S1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.18 AP2S1 Zornitza Stark Phenotypes for gene: AP2S1 were changed from to Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926
Calcium and Phosphate disorders v0.24 AP2S1 Zornitza Stark reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222959, 33729479, 33168530, 3204769, 31723423, 29479578; Phenotypes: Hypocalciuric hypercalcemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.17 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to
Hypercalcaemia v0.16 AP2S1 Zornitza Stark Mode of inheritance for gene: AP2S1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.15 AP2S1 Zornitza Stark reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222959, 33729479, 33168530, 3204769, 31723423, 29479578; Phenotypes: Hypocalciuric hypercalcemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.7009 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Mendeliome v0.7009 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Green List (High Evidence).
Mendeliome v0.7009 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from to Anaemia, sideroblastic, with ataxia, MIM# 301310
Mendeliome v0.7008 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to
Mendeliome v0.7007 ABCB7 Zornitza Stark Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7006 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 10196363, 33157103, 31772327, 31511561, 26242992; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.592 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Mitochondrial disease v0.592 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.592 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from to Anaemia, sideroblastic, with ataxia, MIM# 301310
Mitochondrial disease v0.591 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to
Mitochondrial disease v0.590 ABCB7 Zornitza Stark Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.589 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 10196363, 33157103, 31772327, 31511561, 26242992; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7006 PORCN Zornitza Stark Marked gene: PORCN as ready
Mendeliome v0.7006 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Mendeliome v0.7006 PORCN Zornitza Stark Phenotypes for gene: PORCN were changed from to Focal dermal hypoplasia, MIM# 305600
Mendeliome v0.7005 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)
Mendeliome v0.7004 PORCN Zornitza Stark reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ectodermal Dysplasia v0.41 PORCN Zornitza Stark Marked gene: PORCN as ready
Ectodermal Dysplasia v0.41 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.41 PORCN Zornitza Stark Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia to Focal dermal hypoplasia, MIM# 305600
Ectodermal Dysplasia v0.40 PORCN Zornitza Stark reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ectodermal Dysplasia v0.39 EVC Zornitza Stark Marked gene: EVC as ready
Ectodermal Dysplasia v0.39 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.39 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Weyers acrofacial dysostosis, Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530
Ectodermal Dysplasia v0.38 EVC Zornitza Stark edited their review of gene: EVC: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.38 EVC Zornitza Stark edited their review of gene: EVC: Changed phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530
Ectodermal Dysplasia v0.38 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.37 EVC Zornitza Stark reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.37 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Ectodermal Dysplasia v0.37 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.37 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2 to Trichothiodystrophy 1, photosensitive, MIM# 601675
Ectodermal Dysplasia v0.36 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Ectodermal Dysplasia v0.35 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9195225, 9758621; Phenotypes: Trichothiodystrophy 1, photosensitive, MIM# 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.35 EDAR Zornitza Stark Marked gene: EDAR as ready
Ectodermal Dysplasia v0.35 EDAR Zornitza Stark Gene: edar has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.35 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia, anhidrotic, Hair morphology to Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900
Ectodermal Dysplasia v0.34 EDAR Zornitza Stark reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.34 EDA Zornitza Stark Marked gene: EDA as ready
Ectodermal Dysplasia v0.34 EDA Zornitza Stark Gene: eda has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.34 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective to Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100; MONDO:0010585
Ectodermal Dysplasia v0.33 EDA Zornitza Stark reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100, MONDO:0010585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinitis pigmentosa v0.88 AMACR Zornitza Stark Marked gene: AMACR as ready
Retinitis pigmentosa v0.88 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.88 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Retinitis pigmentosa v0.88 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.87 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 21686617; 20821052; 11861706; 10655068; 15249642; 23286897
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Review for gene: AMACR was set to GREEN
Added comment: Pigmentary retinopathy can be a presenting feature.
Sources: Expert Review
Mendeliome v0.7004 PRIM1 Zornitza Stark Tag deep intronic tag was added to gene: PRIM1.
Tag founder tag was added to gene: PRIM1.
Microcephaly v0.639 PRIM1 Zornitza Stark changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Mendeliome v0.7004 PRIM1 Zornitza Stark changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Mendeliome v0.7004 PRIM1 Zornitza Stark Marked gene: PRIM1 as ready
Mendeliome v0.7004 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7004 PRIM1 Zornitza Stark Classified gene: PRIM1 as Amber List (moderate evidence)
Mendeliome v0.7004 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7003 PRIM1 Zornitza Stark changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Mendeliome v0.7003 PRIM1 Zornitza Stark changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Mendeliome v0.7003 PRIM1 Zornitza Stark gene: PRIM1 was added
gene: PRIM1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950
Review for gene: PRIM1 was set to AMBER
Added comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Microcephaly v0.639 PRIM1 Zornitza Stark Marked gene: PRIM1 as ready
Microcephaly v0.639 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.639 PRIM1 Zornitza Stark Tag deep intronic tag was added to gene: PRIM1.
Tag founder tag was added to gene: PRIM1.
Microcephaly v0.639 PRIM1 Zornitza Stark Classified gene: PRIM1 as Amber List (moderate evidence)
Microcephaly v0.639 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.638 PRIM1 Zornitza Stark gene: PRIM1 was added
gene: PRIM1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950
Review for gene: PRIM1 was set to AMBER
Added comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Mendeliome v0.7002 ACTL9 Zornitza Stark Phenotypes for gene: ACTL9 were changed from Fertilization failure; male infertility to Spermatogenic failure 53, MIM#619258; Fertilization failure; male infertility
Mendeliome v0.7001 ACTL9 Zornitza Stark reviewed gene: ACTL9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 53, MIM#619258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3596 TTC5 Zornitza Stark Phenotypes for gene: TTC5 were changed from Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system
Intellectual disability syndromic and non-syndromic v0.3595 TTC5 Zornitza Stark reviewed gene: TTC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.637 TTC5 Zornitza Stark Phenotypes for gene: TTC5 were changed from Intellectual disability; microcephaly to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Intellectual disability; microcephaly
Microcephaly v0.636 TTC5 Zornitza Stark reviewed gene: TTC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7001 TTC5 Zornitza Stark Phenotypes for gene: TTC5 were changed from Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system
Mendeliome v0.7000 TTC5 Zornitza Stark edited their review of gene: TTC5: Changed phenotypes: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244, Central hypotonia, Global developmental delay, Intellectual disability, Abnormality of nervous system morphology, Microcephaly, Abnormality of the face, Behavioral abnormality, Abnormality of the genitourinary system
Ectodermal Dysplasia v0.33 PRKD1 Zornitza Stark Marked gene: PRKD1 as ready
Ectodermal Dysplasia v0.33 PRKD1 Zornitza Stark Gene: prkd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.33 PRKD1 Zornitza Stark Phenotypes for gene: PRKD1 were changed from Congenital heart defects and ectodermal dysplasia to Congenital heart defects and ectodermal dysplasia, MIM# 617364
Ectodermal Dysplasia v0.32 PRKD1 Zornitza Stark Publications for gene: PRKD1 were set to
Ectodermal Dysplasia v0.31 PRKD1 Zornitza Stark Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal Dysplasia v0.30 CDH3 Zornitza Stark Marked gene: CDH3 as ready
Ectodermal Dysplasia v0.30 CDH3 Zornitza Stark Gene: cdh3 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.30 CDH3 Zornitza Stark Phenotypes for gene: CDH3 were changed from Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553
Ectodermal Dysplasia v0.29 CDH3 Zornitza Stark Publications for gene: CDH3 were set to
Ectodermal Dysplasia v0.28 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.28 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Ectodermal Dysplasia v0.28 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.28 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1 to Bjornstad syndrome MIM#262000
Ectodermal Dysplasia v0.27 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Cardiomyopathy_Paediatric v0.63 MCM10 Zornitza Stark Marked gene: MCM10 as ready
Cardiomyopathy_Paediatric v0.63 MCM10 Zornitza Stark Gene: mcm10 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.63 MCM10 Zornitza Stark gene: MCM10 was added
gene: MCM10 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM10 were set to 32865517; 33712616
Phenotypes for gene: MCM10 were set to Restrictive cardiomyopathy
Review for gene: MCM10 was set to RED
Added comment: PMID 33712616: three affected sibs with restrictive cardiomyopathy and hypoplasia of the spleen and thymus. Functional data suggested that MCM10 deficiency causes chronic replication stress that reduces cell viability due to increased genomic instability and telomere erosion.
Sources: Literature
Mendeliome v0.7000 MCM10 Zornitza Stark Phenotypes for gene: MCM10 were changed from Susceptibility to CMV to Susceptibility to CMV; Restrictive cardiomyopathy
Mendeliome v0.6999 MCM10 Zornitza Stark Publications for gene: MCM10 were set to 32865517
Mendeliome v0.6998 MCM10 Zornitza Stark edited their review of gene: MCM10: Added comment: PMID 33712616: second family reported, three affected sibs with restrictive cardiomyopathy and hypoplasia of the spleen and thymus. Functional data suggested that MCM10 deficiency causes chronic replication stress that reduces cell viability due to increased genomic instability and telomere erosion.; Changed publications: 32865517, 33712616; Changed phenotypes: Susceptibility to CMV, Restrictive cardiomyopathy
Mendeliome v0.6998 CYBA Zornitza Stark Marked gene: CYBA as ready
Mendeliome v0.6998 CYBA Zornitza Stark Gene: cyba has been classified as Green List (High Evidence).
Mendeliome v0.6998 CYBA Zornitza Stark Phenotypes for gene: CYBA were changed from to Chronic granulomatous disease 4, autosomal recessive, MIM# 233690; MONDO:0009308
Mendeliome v0.6997 CYBA Zornitza Stark Publications for gene: CYBA were set to
Mendeliome v0.6996 CYBA Zornitza Stark Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6995 CYBA Zornitza Stark reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2770793; Phenotypes: Chronic granulomatous disease 4, autosomal recessive, MIM# 233690, MONDO:0009308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chronic granulomatous disease v0.13 CYBA Zornitza Stark Marked gene: CYBA as ready
Chronic granulomatous disease v0.13 CYBA Zornitza Stark Gene: cyba has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.13 CYBA Zornitza Stark Publications for gene: CYBA were set to
Chronic granulomatous disease v0.12 CYBA Zornitza Stark reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2770793; Phenotypes: Chronic granulomatous disease 4, autosomal recessive, MIM# 233690, MONDO:0009308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chronic granulomatous disease v0.12 C17orf62 Zornitza Stark Marked gene: C17orf62 as ready
Chronic granulomatous disease v0.12 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Microcephaly v0.636 NUP37 Zornitza Stark Marked gene: NUP37 as ready
Microcephaly v0.636 NUP37 Zornitza Stark Gene: nup37 has been classified as Red List (Low Evidence).
Microcephaly v0.636 NUP37 Zornitza Stark gene: NUP37 was added
gene: NUP37 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: NUP37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP37 were set to 30179222
Phenotypes for gene: NUP37 were set to Microcephaly 24, primary, autosomal recessive, MIM# 618179
Review for gene: NUP37 was set to RED
Added comment: Single family reported with nephrotic syndrome and microcephaly.
Sources: Expert list
Mendeliome v0.6995 NUP37 Zornitza Stark Phenotypes for gene: NUP37 were changed from Nephrotic syndrome to Nephrotic syndrome; Microcephaly 24, primary, autosomal recessive, MIM# 618179
Mendeliome v0.6994 NUP37 Zornitza Stark changed review comment from: Single family reported with nephrotic syndrome.
Sources: Literature; to: Single family reported with nephrotic syndrome and microcephaly.
Sources: Literature
Mendeliome v0.6994 NUP37 Zornitza Stark edited their review of gene: NUP37: Changed phenotypes: Nephrotic syndrome, Microcephaly 24, primary, autosomal recessive, MIM# 618179
Microcephaly v0.635 C7orf43 Zornitza Stark Marked gene: C7orf43 as ready
Microcephaly v0.635 C7orf43 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name TRAPPC14
Microcephaly v0.635 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.635 C7orf43 Zornitza Stark Deleted their comment
Microcephaly v0.635 C7orf43 Zornitza Stark Tag new gene name tag was added to gene: C7orf43.
Microcephaly v0.635 WDFY3 Zornitza Stark Marked gene: WDFY3 as ready
Microcephaly v0.635 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Microcephaly v0.635 WDFY3 Zornitza Stark Classified gene: WDFY3 as Green List (high evidence)
Microcephaly v0.635 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Microcephaly v0.634 WDFY3 Zornitza Stark gene: WDFY3 was added
gene: WDFY3 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDFY3 were set to 31327001; 27008544
Phenotypes for gene: WDFY3 were set to Microcephaly 18, primary, autosomal dominant, MIM#617520
Review for gene: WDFY3 was set to GREEN
Added comment: >10 individuals with heterozygous variants in this gene and mild/moderate intellectual disability now described in the literature. Some evidence for opposing effects on brain size depending on variant location.
Sources: Expert list
Mendeliome v0.6994 COPB2 Zornitza Stark Marked gene: COPB2 as ready
Mendeliome v0.6994 COPB2 Zornitza Stark Gene: copb2 has been classified as Red List (Low Evidence).
Mendeliome v0.6994 COPB2 Zornitza Stark gene: COPB2 was added
gene: COPB2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: COPB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB2 were set to 29036432
Phenotypes for gene: COPB2 were set to Microcephaly 19, primary, autosomal recessive, MIM# 617800
Review for gene: COPB2 was set to RED
Added comment: Two sibs with homozygous missense variant in this gene, mice homozygous for this variant had normal brain size however. Mice compound het for null allele and missense variant had some brain features, suggesting the missense variant is hypomorphic.
Sources: Expert list
Microcephaly v0.633 COPB2 Zornitza Stark Marked gene: COPB2 as ready
Microcephaly v0.633 COPB2 Zornitza Stark Gene: copb2 has been classified as Red List (Low Evidence).
Microcephaly v0.633 COPB2 Zornitza Stark edited their review of gene: COPB2: Changed rating: RED; Changed phenotypes: Microcephaly 19, primary, autosomal recessive, MIM# 617800
Microcephaly v0.633 COPB2 Zornitza Stark gene: COPB2 was added
gene: COPB2 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: COPB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB2 were set to 29036432
Phenotypes for gene: COPB2 were set to Microcephaly 19, primary, autosomal recessive, MIM# 617800
Review for gene: COPB2 was set to GREEN
Added comment: Two sibs with homozygous missense variant in this gene, mice homozygous for this variant had normal brain size however. Mice compound het for null allele and missense variant had some brain features, suggesting the missense variant is hypomorphic.
Sources: Expert list
Microcephaly v0.632 STIL Zornitza Stark Marked gene: STIL as ready
Microcephaly v0.632 STIL Zornitza Stark Gene: stil has been classified as Green List (High Evidence).
Callosome v0.277 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Callosome v0.277 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Callosome v0.277 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Callosome v0.276 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Callosome v0.275 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.274 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 20890279, 20729831, 20890278, 21496009, 21834044, 22775483, 32677750, 31788460; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317, MONDO:0011435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1053 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435 to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Genetic Epilepsy v0.1053 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317 to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Genetic Epilepsy v0.1052 WDR62 Zornitza Stark edited their review of gene: WDR62: Changed phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317, MONDO:0011435
Intellectual disability syndromic and non-syndromic v0.3595 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Intellectual disability syndromic and non-syndromic v0.3595 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3595 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Intellectual disability syndromic and non-syndromic v0.3594 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Intellectual disability syndromic and non-syndromic v0.3593 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3592 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 20890279, 20729831, 20890278, 21496009, 21834044, 22775483, 32677750, 31788460; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317, MONDO:0011435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6993 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Mendeliome v0.6993 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Mendeliome v0.6993 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Mendeliome v0.6992 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Mendeliome v0.6991 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6990 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 20890279, 20729831, 20890278, 21496009, 21834044, 22775483, 32677750, 31788460; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317, MONDO:0011435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.161 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Polymicrogyria and Schizencephaly v0.161 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.161 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Polymicrogyria and Schizencephaly v0.160 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Polymicrogyria and Schizencephaly v0.159 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.158 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 20890279, 20729831, 20890278, 21496009, 21834044, 22775483, 32677750, 31788460; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317, MONDO:0011435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.632 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Microcephaly v0.632 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Microcephaly v0.632 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Microcephaly v0.631 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Microcephaly v0.630 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.629 WDR62 Zornitza Stark edited their review of gene: WDR62: Changed phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317, MONDO:0011435
Microcephaly v0.629 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 20890279, 20729831, 20890278, 21496009, 21834044, 22775483, 32677750, 31788460; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3592 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Intellectual disability syndromic and non-syndromic v0.3592 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3592 TRMT10A Zornitza Stark Phenotypes for gene: TRMT10A were changed from to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208
Intellectual disability syndromic and non-syndromic v0.3591 TRMT10A Zornitza Stark Publications for gene: TRMT10A were set to
Intellectual disability syndromic and non-syndromic v0.3590 TRMT10A Zornitza Stark Mode of inheritance for gene: TRMT10A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3589 TRMT10A Zornitza Stark reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204302, 25053765, 33448213, 33067246, 26535115, 26526202, 26297882; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033, MONDO:0000208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6990 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Mendeliome v0.6990 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Mendeliome v0.6990 TRMT10A Zornitza Stark Phenotypes for gene: TRMT10A were changed from to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208
Mendeliome v0.6989 TRMT10A Zornitza Stark Publications for gene: TRMT10A were set to
Mendeliome v0.6988 TRMT10A Zornitza Stark Mode of inheritance for gene: TRMT10A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6987 TRMT10A Zornitza Stark reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204302, 25053765, 33448213, 33067246, 26535115, 26526202, 26297882; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033, MONDO:0000208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.629 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Microcephaly v0.629 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Microcephaly v0.629 TRMT10A Zornitza Stark Phenotypes for gene: TRMT10A were changed from to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208
Microcephaly v0.628 TRMT10A Zornitza Stark Publications for gene: TRMT10A were set to
Microcephaly v0.627 TRMT10A Zornitza Stark Mode of inheritance for gene: TRMT10A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.626 TRMT10A Zornitza Stark edited their review of gene: TRMT10A: Changed phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033, MONDO:0000208
Microcephaly v0.626 TRMT10A Zornitza Stark reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204302, 25053765, 33448213, 33067246, 26535115, 26526202, 26297882; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3589 TRAIP Zornitza Stark Publications for gene: TRAIP were set to
Intellectual disability syndromic and non-syndromic v0.3588 TRAIP Zornitza Stark edited their review of gene: TRAIP: Added comment: Three families reported, though two distantly related (founder); functional data.; Changed publications: 26595769
Mendeliome v0.6987 TRAIP Zornitza Stark Marked gene: TRAIP as ready
Mendeliome v0.6987 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Mendeliome v0.6987 TRAIP Zornitza Stark Phenotypes for gene: TRAIP were changed from to Seckel syndrome 9, MIM# 616777
Mendeliome v0.6986 TRAIP Zornitza Stark Publications for gene: TRAIP were set to
Mendeliome v0.6985 TRAIP Zornitza Stark Mode of inheritance for gene: TRAIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6984 TRAIP Zornitza Stark reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26595769; Phenotypes: Seckel syndrome 9, MIM# 616777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.626 TRAIP Zornitza Stark Marked gene: TRAIP as ready
Microcephaly v0.626 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Microcephaly v0.626 TRAIP Zornitza Stark Phenotypes for gene: TRAIP were changed from to Seckel syndrome 9, MIM# 616777
Microcephaly v0.625 TRAIP Zornitza Stark Publications for gene: TRAIP were set to
Microcephaly v0.624 TRAIP Zornitza Stark Mode of inheritance for gene: TRAIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.623 TRAIP Zornitza Stark reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26595769; Phenotypes: Seckel syndrome 9, MIM# 616777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.589 TOP3A Zornitza Stark Marked gene: TOP3A as ready
Mitochondrial disease v0.589 TOP3A Zornitza Stark Gene: top3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.589 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098
Mitochondrial disease v0.588 TOP3A Zornitza Stark Publications for gene: TOP3A were set to
Mitochondrial disease v0.587 TOP3A Zornitza Stark Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.586 TOP3A Zornitza Stark reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320, 29290614; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6984 TOP3A Zornitza Stark Publications for gene: TOP3A were set to 30057030; 33631320
Mendeliome v0.6983 TOP3A Zornitza Stark edited their review of gene: TOP3A: Changed publications: 30057030, 33631320, 29290614
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark edited their review of gene: TOP3A: Changed phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark Marked gene: TOP3A as ready
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark Gene: top3a has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809 to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809
Chromosome Breakage Disorders v0.50 TOP3A Zornitza Stark Publications for gene: TOP3A were set to
Chromosome Breakage Disorders v0.49 TOP3A Zornitza Stark Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.48 TOP3A Zornitza Stark reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6983 TOP3A Zornitza Stark Marked gene: TOP3A as ready
Mendeliome v0.6983 TOP3A Zornitza Stark Gene: top3a has been classified as Green List (High Evidence).
Mendeliome v0.6983 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098
Mendeliome v0.6982 TOP3A Zornitza Stark Publications for gene: TOP3A were set to
Mendeliome v0.6981 TOP3A Zornitza Stark Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6980 TOP3A Zornitza Stark reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.623 TOP3A Zornitza Stark Marked gene: TOP3A as ready
Microcephaly v0.623 TOP3A Zornitza Stark Gene: top3a has been classified as Green List (High Evidence).
Microcephaly v0.623 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097
Microcephaly v0.622 TOP3A Zornitza Stark Publications for gene: TOP3A were set to
Microcephaly v0.621 TOP3A Zornitza Stark Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.620 TOP3A Zornitza Stark reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3588 STIL Zornitza Stark Marked gene: STIL as ready
Intellectual disability syndromic and non-syndromic v0.3588 STIL Zornitza Stark Gene: stil has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3588 STIL Zornitza Stark Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989
Intellectual disability syndromic and non-syndromic v0.3587 STIL Zornitza Stark Publications for gene: STIL were set to
Intellectual disability syndromic and non-syndromic v0.3586 STIL Zornitza Stark Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3585 STIL Zornitza Stark reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO:0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6980 STIL Zornitza Stark Marked gene: STIL as ready
Mendeliome v0.6980 STIL Zornitza Stark Gene: stil has been classified as Green List (High Evidence).
Mendeliome v0.6980 STIL Zornitza Stark Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989
Mendeliome v0.6979 STIL Zornitza Stark Publications for gene: STIL were set to
Mendeliome v0.6978 STIL Zornitza Stark Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6977 STIL Zornitza Stark reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO:0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.620 STIL Zornitza Stark Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989
Microcephaly v0.619 STIL Zornitza Stark Publications for gene: STIL were set to
Microcephaly v0.618 STIL Zornitza Stark Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.617 STIL Zornitza Stark reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO_0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.48 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118
Chromosome Breakage Disorders v0.47 RAD50 Zornitza Stark Publications for gene: RAD50 were set to 19409520; 32212377
Chromosome Breakage Disorders v0.46 RAD50 Zornitza Stark edited their review of gene: RAD50: Added comment: - PMID: 33378670 (2020) - Third case with biallelic RAD50 variants comprising a compound heterozygous frameshift and premature stop codon (c.2165dup; p.Glu723Glyfs∗5 - maternally inherited) and in-frame deletion (c.3109_3111del; p.Glu1035del - de novo). The patient presented with bone marrow failure, immunodeficiency and developmental defects. Collectively, clinical features were reminiscent of impaired DNA repair and/or telomere maintenance. Functional characterisation using patient-derived fibroblasts indicated defects in DNA replication, DNA repair, and DNA end resection; however, ATM-dependent DNA damage response remained intact. Studies in yeast modelling the variant corresponding to p.Glu1035del produced defects in both DNA repair and Tel1ATM-dependent signalling following thermal activation.; Changed publications: 19409520, 32212377, 33378670; Changed phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078, MONDO:0013118
Mendeliome v0.6977 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118
Mendeliome v0.6976 RAD50 Zornitza Stark Publications for gene: RAD50 were set to 19409520; 32212377
Mendeliome v0.6975 RAD50 Arina Puzriakova reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.617 HHAT Zornitza Stark Marked gene: HHAT as ready
Microcephaly v0.617 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Microcephaly v0.617 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Microcephaly v0.617 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3585 STAMBP Zornitza Stark Marked gene: STAMBP as ready
Intellectual disability syndromic and non-syndromic v0.3585 STAMBP Zornitza Stark Gene: stambp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3585 STAMBP Zornitza Stark Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659
Intellectual disability syndromic and non-syndromic v0.3584 STAMBP Zornitza Stark Publications for gene: STAMBP were set to
Intellectual disability syndromic and non-syndromic v0.3583 STAMBP Zornitza Stark Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3582 STAMBP Zornitza Stark reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1052 STAMBP Zornitza Stark Marked gene: STAMBP as ready
Genetic Epilepsy v0.1052 STAMBP Zornitza Stark Gene: stambp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1052 STAMBP Zornitza Stark Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659
Genetic Epilepsy v0.1051 STAMBP Zornitza Stark Publications for gene: STAMBP were set to
Genetic Epilepsy v0.1050 STAMBP Zornitza Stark Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1049 STAMBP Zornitza Stark reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6975 STAMBP Zornitza Stark Marked gene: STAMBP as ready
Mendeliome v0.6975 STAMBP Zornitza Stark Gene: stambp has been classified as Green List (High Evidence).
Mendeliome v0.6975 STAMBP Zornitza Stark Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659
Mendeliome v0.6974 STAMBP Zornitza Stark Publications for gene: STAMBP were set to
Mendeliome v0.6973 STAMBP Zornitza Stark Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6972 STAMBP Zornitza Stark reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.617 STAMBP Zornitza Stark Marked gene: STAMBP as ready
Microcephaly v0.617 STAMBP Zornitza Stark Gene: stambp has been classified as Green List (High Evidence).
Microcephaly v0.617 STAMBP Zornitza Stark Phenotypes for gene: STAMBP were changed from to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659
Microcephaly v0.616 STAMBP Zornitza Stark Publications for gene: STAMBP were set to
Microcephaly v0.615 STAMBP Zornitza Stark Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.614 STAMBP Zornitza Stark reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.614 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Microcephaly v0.614 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Microcephaly v0.614 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Microcephaly v0.613 SLC9A6 Zornitza Stark Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.612 SLC9A6 Zornitza Stark reviewed gene: SLC9A6: Rating: GREEN; 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
Microcephaly v0.612 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Microcephaly v0.612 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.612 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM# 607196
Microcephaly v0.611 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Microcephaly v0.610 SLC25A19 Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.609 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Amber List (moderate evidence)
Microcephaly v0.609 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.608 SLC25A19 Zornitza Stark Tag founder tag was added to gene: SLC25A19.
Microcephaly v0.608 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: None; Publications: 12185364; Phenotypes: Microcephaly, Amish type, MIM# 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3582 RTTN Zornitza Stark Marked gene: RTTN as ready
Intellectual disability syndromic and non-syndromic v0.3582 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3582 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764
Intellectual disability syndromic and non-syndromic v0.3581 RTTN Zornitza Stark Publications for gene: RTTN were set to
Intellectual disability syndromic and non-syndromic v0.3580 RTTN Zornitza Stark Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3579 RTTN Zornitza Stark reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22939636, 26608784, 26940245, 30121372, 29967526, 30927481, 30121372; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833, Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.608 RTTN Zornitza Stark Marked gene: RTTN as ready
Microcephaly v0.608 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Microcephaly v0.608 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764
Microcephaly v0.607 RTTN Zornitza Stark Publications for gene: RTTN were set to
Microcephaly v0.606 RTTN Zornitza Stark Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.605 RTTN Zornitza Stark edited their review of gene: RTTN: Changed phenotypes: Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833, Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764
Microcephaly v0.605 RTTN Zornitza Stark reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22939636, 26608784, 26940245, 30121372, 29967526, 30927481, 30121372; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.605 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Microcephaly v0.605 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Microcephaly v0.605 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM# 251255; Seckel syndrome 2, MIM# 606744
Microcephaly v0.604 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Microcephaly v0.603 RBBP8 Zornitza Stark Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.602 RBBP8 Zornitza Stark changed review comment from: Well established gene-disease association, microcephaly is a feature of both conditions.; to: Microcephaly is a feature of both conditions, which overlap phenotypically.
Microcephaly v0.602 RBBP8 Zornitza Stark edited their review of gene: RBBP8: Changed publications: 26333564, 24440292, 21998596, 24389050
Microcephaly v0.602 RBBP8 Zornitza Stark reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jawad syndrome, MIM# 251255, Seckel syndrome 2, MIM# 606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.602 PQBP1 Zornitza Stark Marked gene: PQBP1 as ready
Microcephaly v0.602 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Green List (High Evidence).
Microcephaly v0.602 PQBP1 Zornitza Stark Phenotypes for gene: PQBP1 were changed from to Renpenning syndrome, MIM# 309500
Microcephaly v0.601 PQBP1 Zornitza Stark Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.600 PQBP1 Zornitza Stark reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renpenning syndrome, MIM# 309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.600 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from Microcephaly, seizures, and developmental delay, MIM# 613402 to Microcephaly, seizures, and developmental delay, MIM# 613402; MONDO:0013254
Microcephaly v0.599 PNKP Zornitza Stark Marked gene: PNKP as ready
Microcephaly v0.599 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Microcephaly v0.599 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from to Microcephaly, seizures, and developmental delay, MIM# 613402
Microcephaly v0.598 PNKP Zornitza Stark Publications for gene: PNKP were set to
Microcephaly v0.597 PNKP Zornitza Stark Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.596 PNKP Zornitza Stark reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20118933, 23224214, 32980744, 31707899; Phenotypes: Microcephaly, seizures, and developmental delay, MIM# 613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3579 BRD4 Chirag Patel Classified gene: BRD4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3579 BRD4 Chirag Patel Gene: brd4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3578 BRD4 Chirag Patel reviewed gene: BRD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Craniosynostosis v1.17 FGF9 Zornitza Stark Publications for gene: FGF9 were set to
Craniosynostosis v1.16 FGF9 Zornitza Stark Classified gene: FGF9 as Green List (high evidence)
Craniosynostosis v1.16 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Craniosynostosis v1.15 FGF9 Chris Richmond reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19589401, 28730625, 19219044; Phenotypes: Multiple synostoses syndrome 3 (612961); Mode of inheritance: None
Callosome v0.274 PCNT Zornitza Stark Marked gene: PCNT as ready
Callosome v0.274 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Callosome v0.274 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Callosome v0.273 PCNT Zornitza Stark Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.272 PCNT Zornitza Stark Classified gene: PCNT as Red List (low evidence)
Callosome v0.272 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Callosome v0.271 PCNT Zornitza Stark reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6972 PCNT Zornitza Stark Marked gene: PCNT as ready
Mendeliome v0.6972 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Mendeliome v0.6972 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Mendeliome v0.6971 PCNT Zornitza Stark Publications for gene: PCNT were set to
Mendeliome v0.6970 PCNT Zornitza Stark Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6969 PCNT Zornitza Stark reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.596 PCNT Zornitza Stark Marked gene: PCNT as ready
Microcephaly v0.596 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Microcephaly v0.596 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Microcephaly v0.595 PCNT Zornitza Stark Publications for gene: PCNT were set to
Microcephaly v0.594 PCNT Zornitza Stark Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.593 PCNT Zornitza Stark reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.593 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Microcephaly v0.593 ORC6 Zornitza Stark Gene: orc6 has been classified as Green List (High Evidence).
Microcephaly v0.593 ORC6 Zornitza Stark Phenotypes for gene: ORC6 were changed from to Meier-Gorlin syndrome 3, MIM# 613803
Microcephaly v0.592 ORC6 Zornitza Stark Mode of inheritance for gene: ORC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.591 ORC6 Zornitza Stark reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 3, MIM# 613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.591 ORC4 Zornitza Stark Marked gene: ORC4 as ready
Microcephaly v0.591 ORC4 Zornitza Stark Gene: orc4 has been classified as Green List (High Evidence).
Microcephaly v0.591 ORC4 Zornitza Stark Phenotypes for gene: ORC4 were changed from to Meier-Gorlin syndrome 2, MIM# 613800; MONDO:0013428
Microcephaly v0.590 ORC4 Zornitza Stark Mode of inheritance for gene: ORC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.589 ORC4 Zornitza Stark reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 2, MIM# 613800, MONDO:0013428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.589 ORC1 Zornitza Stark Marked gene: ORC1 as ready
Microcephaly v0.589 ORC1 Zornitza Stark Gene: orc1 has been classified as Green List (High Evidence).
Microcephaly v0.589 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from to Meier-Gorlin syndrome 1, MIM# 224690; MONDO:0009143
Microcephaly v0.588 ORC1 Zornitza Stark Mode of inheritance for gene: ORC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.587 ORC1 Zornitza Stark reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6969 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Mendeliome v0.6969 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Mendeliome v0.6969 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650
Mendeliome v0.6968 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Mendeliome v0.6967 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6966 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30898087, 30666249, 28741180, 25288157, 24511403, 21721379, 21535335; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, Cernunnos-XLF deficiency MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.587 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650
Microcephaly v0.586 NHEJ1 Zornitza Stark edited their review of gene: NHEJ1: Changed phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, Cernunnos-XLF deficiency MONDO:0012650
Microcephaly v0.586 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Microcephaly v0.586 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Microcephaly v0.586 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291
Microcephaly v0.585 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Microcephaly v0.584 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.583 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30898087, 30666249, 28741180, 25288157, 24511403, 21721379, 21535335; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3578 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Intellectual disability syndromic and non-syndromic v0.3578 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3578 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504
Intellectual disability syndromic and non-syndromic v0.3577 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Intellectual disability syndromic and non-syndromic v0.3576 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3575 NDE1 Zornitza Stark reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21529752, 21529751, 30637988, 15473967; Phenotypes: Lissencephaly 4 (with microcephaly), MIM# 614019, MONDO:0013527, Microhydranencephaly, MIM# 605013, MONDO:0011504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.583 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), MIM# 614019; Microhydranencephaly, MIM# 605013 to Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504
Microcephaly v0.582 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Microcephaly v0.582 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Microcephaly v0.582 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Lissencephaly 4 (with microcephaly), MIM# 614019; Microhydranencephaly, MIM# 605013
Microcephaly v0.581 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Microcephaly v0.580 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.579 NDE1 Zornitza Stark reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21529752, 21529751, 30637988, 15473967; Phenotypes: Lissencephaly 4 (with microcephaly), MIM# 614019, Microhydranencephaly, MIM# 605013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.43 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Hair disorders v0.43 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Hair disorders v0.43 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome 1 to Trichohepatoenteric syndrome 1, MIM#222470
Hair disorders v0.42 TTC37 Zornitza Stark Classified gene: TTC37 as Green List (high evidence)
Hair disorders v0.42 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Hair disorders v0.41 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Hair disorders v0.41 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Hair disorders v0.41 SKIV2L Zornitza Stark Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2 to Trichohepatoenteric syndrome 2, MIM#614602
Hair disorders v0.40 SKIV2L Zornitza Stark Classified gene: SKIV2L as Green List (high evidence)
Hair disorders v0.40 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Hypercalcaemia v0.15 RET Zornitza Stark Marked gene: RET as ready
Hypercalcaemia v0.15 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Hypercalcaemia v0.15 RET Zornitza Stark Classified gene: RET as Green List (high evidence)
Hypercalcaemia v0.15 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Hypercalcaemia v0.14 RET Zornitza Stark gene: RET was added
gene: RET was added to Hypercalcaemia. Sources: Expert Review
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Review for gene: RET was set to GREEN
Added comment: Well established gene-disease association, hyperparathyroidism is a feature.
Sources: Expert Review
Hair disorders v0.39 TTC37 Chris Richmond gene: TTC37 was added
gene: TTC37 was added to Hair disorders. Sources: Expert Review
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC37 were set to 20176027; 17318842
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1
Penetrance for gene: TTC37 were set to unknown
Review for gene: TTC37 was set to GREEN
gene: TTC37 was marked as current diagnostic
Added comment: Sources: Expert Review
Hair disorders v0.39 SKIV2L Chris Richmond gene: SKIV2L was added
gene: SKIV2L was added to Hair disorders. Sources: Expert Review
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SKIV2L were set to 18982349; 18982349; 22444670
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2
Penetrance for gene: SKIV2L were set to unknown
Review for gene: SKIV2L was set to GREEN
gene: SKIV2L was marked as current diagnostic
Added comment: Sources: Expert Review
Cancer Predisposition_Paediatric v0.96 NBN Zornitza Stark Marked gene: NBN as ready
Cancer Predisposition_Paediatric v0.96 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.96 NBN Zornitza Stark Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623
Cancer Predisposition_Paediatric v0.95 NBN Zornitza Stark Publications for gene: NBN were set to
Cancer Predisposition_Paediatric v0.94 NBN Zornitza Stark Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.93 NBN Zornitza Stark reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome, MIM# 251260, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.46 NBN Zornitza Stark Marked gene: NBN as ready
Chromosome Breakage Disorders v0.46 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.46 NBN Zornitza Stark Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623
Chromosome Breakage Disorders v0.45 NBN Zornitza Stark Publications for gene: NBN were set to
Chromosome Breakage Disorders v0.44 NBN Zornitza Stark Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.43 NBN Zornitza Stark reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome, MIM# 251260, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6966 NBN Zornitza Stark Marked gene: NBN as ready
Mendeliome v0.6966 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Mendeliome v0.6966 NBN Zornitza Stark Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623
Mendeliome v0.6965 NBN Zornitza Stark Publications for gene: NBN were set to
Mendeliome v0.6964 NBN Zornitza Stark Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6963 NBN Zornitza Stark reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome, MIM# 251260, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.579 NBN Zornitza Stark Marked gene: NBN as ready
Microcephaly v0.579 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Microcephaly v0.579 NBN Zornitza Stark Publications for gene: NBN were set to
Microcephaly v0.578 NBN Zornitza Stark Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623
Microcephaly v0.577 NBN Zornitza Stark Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.576 NBN Zornitza Stark Deleted their comment
Microcephaly v0.576 NBN Zornitza Stark edited their review of gene: NBN: Added comment: The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer.

>100 patients reported.; Changed publications: 33488600, 33082212
Microcephaly v0.576 NBN Zornitza Stark reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome, MIM# 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.268 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Cataract v0.268 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.3 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols; MONDO:0014793
Ichthyosis and Porokeratosis v1.1 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834) to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834); MONDO:0014793
Cataract v0.268 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; MONDO:0014793
Intellectual disability syndromic and non-syndromic v0.3575 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Intellectual disability syndromic and non-syndromic v0.3575 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3575 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; MONDO:0014793
Intellectual disability syndromic and non-syndromic v0.3574 MSMO1 Zornitza Stark Publications for gene: MSMO1 were set to
Intellectual disability syndromic and non-syndromic v0.3573 MSMO1 Zornitza Stark Mode of inheritance for gene: MSMO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3572 MSMO1 Zornitza Stark reviewed gene: MSMO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 21285510, 24144731, 33161406, 28673550, 33161406; Phenotypes: Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834, MONDO:0014793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.576 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Microcephaly v0.576 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Green List (High Evidence).
Microcephaly v0.576 MSMO1 Zornitza Stark Publications for gene: MSMO1 were set to
Mendeliome v0.6963 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Mendeliome v0.6963 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Green List (High Evidence).
Mendeliome v0.6963 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; MONDO:0014793; Disorders of the metabolism of sterols
Mendeliome v0.6962 MSMO1 Zornitza Stark Publications for gene: MSMO1 were set to
Mendeliome v0.6961 MSMO1 Zornitza Stark Mode of inheritance for gene: MSMO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6960 MSMO1 Zornitza Stark reviewed gene: MSMO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21285510, 24144731, 28673550, 33161406; Phenotypes: Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834, MONDO:0014793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.575 MSMO1 Zornitza Stark Mode of inheritance for gene: MSMO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.574 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; MONDO:0014793
Microcephaly v0.573 MSMO1 Zornitza Stark reviewed gene: MSMO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21285510, 24144731, 28673550, 33161406; Phenotypes: Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.271 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Callosome v0.271 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Callosome v0.271 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617
Callosome v0.270 MCPH1 Zornitza Stark Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.269 MCPH1 Zornitza Stark Classified gene: MCPH1 as Red List (low evidence)
Callosome v0.269 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Callosome v0.268 MCPH1 Zornitza Stark reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200, MONDO:0009617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3572 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Intellectual disability syndromic and non-syndromic v0.3572 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3572 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617
Intellectual disability syndromic and non-syndromic v0.3571 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Intellectual disability syndromic and non-syndromic v0.3570 MCPH1 Zornitza Stark Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3569 MCPH1 Zornitza Stark reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12046007, 15199523, 16311745, 20978018, 32294449, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200, MONDO:0009617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6960 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Mendeliome v0.6960 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Mendeliome v0.6960 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617
Mendeliome v0.6959 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Mendeliome v0.6958 MCPH1 Zornitza Stark Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6957 MCPH1 Zornitza Stark reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12046007, 15199523, 16311745, 20978018, 32294449, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200, MONDO:0009617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.573 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive, MIM# 251200 to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617
Microcephaly v0.572 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Microcephaly v0.572 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Microcephaly v0.572 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200
Microcephaly v0.571 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Microcephaly v0.570 MCPH1 Zornitza Stark Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.569 MCPH1 Zornitza Stark reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12046007, 15199523, 16311745, 20978018, 32294449, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6957 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Mendeliome v0.6957 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Mendeliome v0.6957 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235; Polymicrogyria
Mendeliome v0.6956 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Mendeliome v0.6955 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6954 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15260953, 22842232, 24468074, 33762331; Phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820, CAPOS syndrome, MIM# 601338, Dystonia-12, MIM# 128235, Polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.158 ATP1A3 Zornitza Stark Classified gene: ATP1A3 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.158 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.157 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Polymicrogyria and Schizencephaly v0.157 ATP1A3 Zornitza Stark Gene: atp1a3 has been removed from the panel.
Polymicrogyria and Schizencephaly v0.157 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33762331; Phenotypes: Polymicrogyria, epilepsy, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.157 ATP1A3 Chloe Stutterd gene: ATP1A3 was added
gene: ATP1A3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to PMID: 33762331
Phenotypes for gene: ATP1A3 were set to Polymicrogyria; epilepsy; developmental delay
Review for gene: ATP1A3 was set to GREEN
Added comment: Sources: Literature
Bone Marrow Failure v0.197 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
Mendeliome v0.6954 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
Microcephaly v0.569 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
Microcephaly v0.568 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Microcephaly v0.568 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Microcephaly v0.568 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Microcephaly v0.567 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Microcephaly v0.566 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.565 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 16357942, 32534991, 32471509; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Kabuki syndrome v0.12 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Kabuki syndrome v0.12 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Kabuki syndrome v0.12 CDK13 Zornitza Stark Classified gene: CDK13 as Green List (high evidence)
Kabuki syndrome v0.12 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Kabuki syndrome v0.11 CDK13 Zornitza Stark gene: CDK13 was added
gene: CDK13 was added to Kabuki syndrome. Sources: Expert Review
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK13 were set to 29021403; 29393965; 30904094
Phenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360
Review for gene: CDK13 was set to GREEN
Added comment: More than 15 unrelated individuals reported, Kabuki-like.
Sources: Expert Review
Cardiomyopathy_Paediatric v0.62 MIB1 Ain Roesley changed review comment from: PMID: 30322850
4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)
Only W271G and the fs demonstrated reduced NOTCh signaling
Mutant zebrafish were evaluated for degree of malformation

Association with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real

NO association with DCM by clingen; to: CHD: PMID: 30322850
4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)
Only W271G and the fs demonstrated reduced NOTCh signaling
Mutant zebrafish were evaluated for degree of malformation

Association with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real

NO association with DCM by clingen
Intellectual disability syndromic and non-syndromic v0.3569 LARP7 Zornitza Stark Marked gene: LARP7 as ready
Intellectual disability syndromic and non-syndromic v0.3569 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3569 LARP7 Zornitza Stark Phenotypes for gene: LARP7 were changed from to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031
Intellectual disability syndromic and non-syndromic v0.3568 LARP7 Zornitza Stark Publications for gene: LARP7 were set to
Intellectual disability syndromic and non-syndromic v0.3567 LARP7 Zornitza Stark Mode of inheritance for gene: LARP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3566 LARP7 Zornitza Stark reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879; Phenotypes: Alazami syndrome, MIM# 615071, Microcephalic primordial dwarfism, Alazami type MONDO:0014031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6953 LARP7 Zornitza Stark Marked gene: LARP7 as ready
Mendeliome v0.6953 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Mendeliome v0.6953 LARP7 Zornitza Stark Phenotypes for gene: LARP7 were changed from to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031
Microcephaly v0.565 LARP7 Zornitza Stark Marked gene: LARP7 as ready
Microcephaly v0.565 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Mendeliome v0.6952 LARP7 Zornitza Stark Publications for gene: LARP7 were set to
Microcephaly v0.565 LARP7 Zornitza Stark Phenotypes for gene: LARP7 were changed from to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031
Mendeliome v0.6951 LARP7 Zornitza Stark Mode of inheritance for gene: LARP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.564 LARP7 Zornitza Stark Publications for gene: LARP7 were set to
Mendeliome v0.6950 LARP7 Zornitza Stark reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879; Phenotypes: Alazami syndrome, MIM# 615071, Microcephalic primordial dwarfism, Alazami type MONDO:0014031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.563 LARP7 Zornitza Stark Mode of inheritance for gene: LARP7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.563 LARP7 Zornitza Stark Mode of inheritance for gene: LARP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.562 LARP7 Zornitza Stark reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879; Phenotypes: Alazami syndrome, MIM# 615071, Microcephalic primordial dwarfism, Alazami type MONDO:0014031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3566 KNL1 Zornitza Stark Marked gene: KNL1 as ready
Intellectual disability syndromic and non-syndromic v0.3566 KNL1 Zornitza Stark Gene: knl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3566 KNL1 Zornitza Stark Phenotypes for gene: KNL1 were changed from to Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437
Intellectual disability syndromic and non-syndromic v0.3565 KNL1 Zornitza Stark Publications for gene: KNL1 were set to
Intellectual disability syndromic and non-syndromic v0.3564 KNL1 Zornitza Stark Mode of inheritance for gene: KNL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3563 KNL1 Zornitza Stark reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22983954, 26626498, 27149178, 30304678, 27784895; Phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.562 KNL1 Zornitza Stark Marked gene: KNL1 as ready
Microcephaly v0.562 KNL1 Zornitza Stark Gene: knl1 has been classified as Green List (High Evidence).
Mendeliome v0.6950 KNL1 Zornitza Stark Marked gene: KNL1 as ready
Mendeliome v0.6950 KNL1 Zornitza Stark Gene: knl1 has been classified as Green List (High Evidence).
Mendeliome v0.6950 KNL1 Zornitza Stark Phenotypes for gene: KNL1 were changed from to Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437
Mendeliome v0.6949 KNL1 Zornitza Stark Publications for gene: KNL1 were set to
Mendeliome v0.6948 KNL1 Zornitza Stark Mode of inheritance for gene: KNL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.562 KNL1 Zornitza Stark Phenotypes for gene: KNL1 were changed from to Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437
Mendeliome v0.6947 KNL1 Zornitza Stark reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22983954, 26626498, 27149178, 30304678, 27784895; Phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.561 KNL1 Zornitza Stark Publications for gene: KNL1 were set to
Microcephaly v0.560 KNL1 Zornitza Stark Mode of inheritance for gene: KNL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.559 KNL1 Zornitza Stark edited their review of gene: KNL1: Changed phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321, MONDO:0011437
Microcephaly v0.559 KNL1 Zornitza Stark reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22983954, 26626498, 27149178, 30304678, 27784895; Phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.141 TNRC6B Zornitza Stark Phenotypes for gene: TNRC6B were changed from Global developmental delay; Intellectual disability; Autistic behavior to Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Autism v0.140 TNRC6B Zornitza Stark edited their review of gene: TNRC6B: Changed phenotypes: Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Mendeliome v0.6947 TNRC6B Zornitza Stark Phenotypes for gene: TNRC6B were changed from Global developmental delay; Intellectual disability; Autistic behavior to Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Mendeliome v0.6946 TNRC6B Zornitza Stark edited their review of gene: TNRC6B: Changed phenotypes: Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Intellectual disability syndromic and non-syndromic v0.3563 TNRC6B Zornitza Stark Phenotypes for gene: TNRC6B were changed from Global developmental delay; Intellectual disability; Autistic behavior to Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Intellectual disability syndromic and non-syndromic v0.3562 TNRC6B Zornitza Stark edited their review of gene: TNRC6B: Changed rating: GREEN; Changed phenotypes: Global developmental delay with speech and behavioural abnormalities, MIM# 619243; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6946 BAAT Zornitza Stark Marked gene: BAAT as ready
Mendeliome v0.6946 BAAT Zornitza Stark Gene: baat has been classified as Green List (High Evidence).
Mendeliome v0.6946 BAAT Zornitza Stark Phenotypes for gene: BAAT were changed from to Bile acid conjugation defect 1, MIM# 619232
Mendeliome v0.6945 BAAT Zornitza Stark Publications for gene: BAAT were set to
Mendeliome v0.6944 BAAT Zornitza Stark Mode of inheritance for gene: BAAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6943 BAAT Zornitza Stark reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 12704386, 23415802; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.191 BAAT Zornitza Stark Phenotypes for gene: BAAT were changed from to Bile acid conjugation defect 1, MIM# 619232
Cholestasis v0.190 BAAT Zornitza Stark Publications for gene: BAAT were set to
Cholestasis v0.189 BAAT Zornitza Stark Mode of inheritance for gene: BAAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.188 BAAT Zornitza Stark reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 12704386, 23415802; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.2 BAAT Zornitza Stark Phenotypes for gene: BAAT were changed from Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism to Bile acid conjugation defect 1, MIM# 619232; Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism
Miscellaneous Metabolic Disorders v1.1 BAAT Zornitza Stark reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.161 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Syndromic Retinopathy v0.161 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.161 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM#152950 to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Syndromic Retinopathy v0.160 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Syndromic Retinopathy v0.159 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827, 25115524, 25124931, 27212378, 32730767, 31993640, 25996076; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3562 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918 to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Intellectual disability syndromic and non-syndromic v0.3561 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MIM#152950 to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Intellectual disability syndromic and non-syndromic v0.3560 KIF11 Zornitza Stark Publications for gene: KIF11 were set to 24281367
Intellectual disability syndromic and non-syndromic v0.3559 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827, 25115524, 25124931, 27212378, 32730767, 31993640, 25996076; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.559 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Microcephaly v0.559 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Lymphoedema v0.7 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Lymphoedema v0.7 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Lymphoedema v0.7 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950 to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Lymphoedema v0.6 KIF11 Zornitza Stark Publications for gene: KIF11 were set to 22284827
Lymphoedema v0.5 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827, 25115524, 25124931, 27212378, 32730767, 31993640, 25996076; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.559 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Callosome v0.268 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Callosome v0.268 KIF11 Zornitza Stark Gene: kif11 has been classified as Red List (Low Evidence).
Callosome v0.268 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Callosome v0.267 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.266 KIF11 Zornitza Stark Classified gene: KIF11 as Red List (low evidence)
Callosome v0.266 KIF11 Zornitza Stark Gene: kif11 has been classified as Red List (Low Evidence).
Callosome v0.265 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6943 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Mendeliome v0.6943 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Mendeliome v0.6943 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Mendeliome v0.6942 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Mendeliome v0.6941 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6940 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827, 25115524, 25124931, 27212378, 32730767, 31993640, 25996076; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.558 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Microcephaly v0.557 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.10 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Monogenic Diabetes v0.10 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.10 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy, and diabetes syndrome to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Microcephaly v0.556 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827, 25115524, 25124931, 27212378, 32730767, 31993640, 25996076; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.9 IER3IP1 Zornitza Stark reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3559 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Intellectual disability syndromic and non-syndromic v0.3559 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3559 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Intellectual disability syndromic and non-syndromic v0.3558 IER3IP1 Zornitza Stark Publications for gene: IER3IP1 were set to
Intellectual disability syndromic and non-syndromic v0.3557 IER3IP1 Zornitza Stark Mode of inheritance for gene: IER3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3556 IER3IP1 Zornitza Stark reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1049 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Genetic Epilepsy v0.1049 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1049 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Genetic Epilepsy v0.1048 IER3IP1 Zornitza Stark Publications for gene: IER3IP1 were set to
Genetic Epilepsy v0.1047 IER3IP1 Zornitza Stark Mode of inheritance for gene: IER3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1046 IER3IP1 Zornitza Stark reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6940 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Mendeliome v0.6940 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Mendeliome v0.6940 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Mendeliome v0.6939 IER3IP1 Zornitza Stark Publications for gene: IER3IP1 were set to
Mendeliome v0.6938 IER3IP1 Zornitza Stark Mode of inheritance for gene: IER3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6937 IER3IP1 Zornitza Stark reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.556 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Microcephaly v0.556 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Microcephaly v0.556 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Microcephaly v0.555 IER3IP1 Zornitza Stark Publications for gene: IER3IP1 were set to
Microcephaly v0.554 IER3IP1 Zornitza Stark Mode of inheritance for gene: IER3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.553 IER3IP1 Zornitza Stark edited their review of gene: IER3IP1: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Microcephaly v0.553 IER3IP1 Zornitza Stark reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3556 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Intellectual disability syndromic and non-syndromic v0.3556 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3556 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Intellectual disability syndromic and non-syndromic v0.3555 EFTUD2 Zornitza Stark Publications for gene: EFTUD2 were set to
Intellectual disability syndromic and non-syndromic v0.3554 EFTUD2 Zornitza Stark Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3553 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.553 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Microcephaly v0.553 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Microcephaly v0.553 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Mendeliome v0.6937 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Mendeliome v0.6937 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Mendeliome v0.6937 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Mendeliome v0.6936 EFTUD2 Zornitza Stark Publications for gene: EFTUD2 were set to
Mendeliome v0.6935 EFTUD2 Zornitza Stark Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6934 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.29 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Mandibulofacial Acrofacial dysostosis v0.29 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.29 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Microcephaly v0.552 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Mandibulofacial Acrofacial dysostosis v0.28 EFTUD2 Zornitza Stark Publications for gene: EFTUD2 were set to
Mandibulofacial Acrofacial dysostosis v0.27 EFTUD2 Zornitza Stark Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.26 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.551 EFTUD2 Zornitza Stark Publications for gene: EFTUD2 were set to
Microcephaly v0.550 EFTUD2 Zornitza Stark Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.549 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528, 23188108, 33601405, 33262786, 26507355; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536, Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3553 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Intellectual disability syndromic and non-syndromic v0.3553 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3553 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Intellectual disability syndromic and non-syndromic v0.3552 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Intellectual disability syndromic and non-syndromic v0.3551 CEP152 Zornitza Stark Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3550 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.265 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Callosome v0.265 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Callosome v0.265 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Callosome v0.264 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Callosome v0.263 CEP152 Zornitza Stark Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.262 CEP152 Zornitza Stark Classified gene: CEP152 as Red List (low evidence)
Callosome v0.262 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Callosome v0.261 CEP152 Zornitza Stark changed review comment from: Corpus callosum abnoramalities are not a prominent feature of these conditions, rather reduced brain size and simplified gyral pattern.; to: Corpus callosum abnormalities are not a prominent feature of these conditions, rather reduced brain size and simplified gyral pattern.
Callosome v0.261 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6934 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Mendeliome v0.6934 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Mendeliome v0.6934 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Mendeliome v0.6933 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Mendeliome v0.6932 CEP152 Zornitza Stark Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6931 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.549 CEP152 Zornitza Stark changed review comment from: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome. Gene encodes centriole protein.; to: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. Gene encodes centriole protein.
Microcephaly v0.549 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Microcephaly v0.549 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Microcephaly v0.549 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Microcephaly v0.548 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Microcephaly v0.547 CEP152 Zornitza Stark Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.546 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.546 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Microcephaly v0.546 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Mendeliome v0.6931 GNPAT Zornitza Stark Marked gene: GNPAT as ready
Mendeliome v0.6931 GNPAT Zornitza Stark Gene: gnpat has been classified as Green List (High Evidence).
Mendeliome v0.6931 GNPAT Zornitza Stark Phenotypes for gene: GNPAT were changed from to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112
Mendeliome v0.6930 GNPAT Zornitza Stark Publications for gene: GNPAT were set to
Mendeliome v0.6929 GNPAT Zornitza Stark Mode of inheritance for gene: GNPAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6928 GNPAT Zornitza Stark reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765, MONDO:0009112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3550 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate to Neurodevelopmental disorder with or without autism or seizures, MIM# 619239; Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate
Intellectual disability syndromic and non-syndromic v0.3549 CUL3 Zornitza Stark reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without autism or seizures, MIM# 619239; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1046 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate to Neurodevelopmental disorder with or without autism or seizures, MIM# 619239; Global developmental delay; Intellectual disability; Seizures; Abnormality of cardiovascular system morphology; Abnormality of the palate
Genetic Epilepsy v0.1045 CUL3 Zornitza Stark reviewed gene: CUL3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without autism or seizures 619239; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6928 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Pseudohypoaldosteronism, type IIE 614496; Intellectual disability; Autism; Seizures to Pseudohypoaldosteronism, type IIE 614496; Neurodevelopmental disorder with or without autism or seizures, MIM# 619239
Mendeliome v0.6927 CUL3 Zornitza Stark edited their review of gene: CUL3: Changed phenotypes: Pseudohypoaldosteronism, type IIE 614496, Neurodevelopmental disorder with or without autism or seizures 619239
Autism v0.140 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Autism; Intellectual disability; Epilepsy to Neurodevelopmental disorder with or without autism or seizures 619239
Autism v0.139 CUL3 Zornitza Stark edited their review of gene: CUL3: Changed phenotypes: Neurodevelopmental disorder with or without autism or seizures MIM#619239
Mendeliome v0.6927 CD4 Zornitza Stark Marked gene: CD4 as ready
Mendeliome v0.6927 CD4 Zornitza Stark Gene: cd4 has been classified as Green List (High Evidence).
Mendeliome v0.6927 CD4 Zornitza Stark Phenotypes for gene: CD4 were changed from to Immunodeficiency 79, MIM# 619238; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
Mendeliome v0.6926 CD4 Zornitza Stark Publications for gene: CD4 were set to
Mendeliome v0.6925 CD4 Zornitza Stark Mode of inheritance for gene: CD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6924 CD4 Zornitza Stark changed review comment from: Single individual reported, functional data, emerging gene.; to: Two individuals reported, functional data.
Mendeliome v0.6924 CD4 Zornitza Stark edited their review of gene: CD4: Changed rating: GREEN; Changed publications: 31781092, 33471124; Changed phenotypes: Immunodeficiency 79, MIM# 619238, Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts
Susceptibility to Viral Infections v0.72 CD4 Zornitza Stark Phenotypes for gene: CD4 were changed from Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts to Immunodeficiency 79, MIM# 619238; Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts
Susceptibility to Viral Infections v0.71 CD4 Zornitza Stark Publications for gene: CD4 were set to 31781092
Susceptibility to Viral Infections v0.70 CD4 Zornitza Stark Classified gene: CD4 as Green List (high evidence)
Susceptibility to Viral Infections v0.70 CD4 Zornitza Stark Gene: cd4 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.69 CD4 Zornitza Stark changed review comment from: Single individual reported, functional data, emerging gene.
Sources: Literature; to: Two individuals reported, functional data.
Sources: Literature
Susceptibility to Viral Infections v0.69 CD4 Zornitza Stark edited their review of gene: CD4: Changed rating: GREEN
Susceptibility to Viral Infections v0.69 CD4 Zornitza Stark edited their review of gene: CD4: Changed publications: 31781092, 33471124
Susceptibility to Viral Infections v0.69 CD4 Zornitza Stark edited their review of gene: CD4: Changed phenotypes: Immunodeficiency 79, MIM# 619238, Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts
Joubert syndrome and other neurological ciliopathies v1.2 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Joubert syndrome and other neurological ciliopathies v1.2 KIAA0586 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name KATNIP
Joubert syndrome and other neurological ciliopathies v1.2 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.2 KIAA0586 Zornitza Stark Tag new gene name tag was added to gene: KIAA0586.
Joubert syndrome and other neurological ciliopathies v1.2 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Joubert syndrome and other neurological ciliopathies v1.2 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.2 CEP120 Zornitza Stark Classified gene: CEP120 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.2 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.1 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to 27208211; 33486889; 29847808
Phenotypes for gene: CEP120 were set to Joubert syndrome 31, MIM# 617761
Review for gene: CEP120 was set to GREEN
Added comment: More than 5 unrelated families with JBTS reported. Note variants in this gene also cause SRTD. Functional data.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v1.0 Zornitza Stark promoted panel to version 1.0
Regression v0.278 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Regression v0.278 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Red List (Low Evidence).
Regression v0.278 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Regression v0.277 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.276 TMEM231 Zornitza Stark Classified gene: TMEM231 as Red List (low evidence)
Regression v0.276 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Red List (Low Evidence).
Regression v0.275 TMEM231 Zornitza Stark reviewed gene: TMEM231: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6924 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Mendeliome v0.6924 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Mendeliome v0.6924 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Mendeliome v0.6923 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Mendeliome v0.6922 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6921 TMEM231 Zornitza Stark changed review comment from: Two families described with the Joubert phenotype, severely affected, not ambulant.; to: More than 3 unrelated families reported with each phenotype, functional data.
Mendeliome v0.6921 TMEM231 Zornitza Stark edited their review of gene: TMEM231: Changed rating: GREEN; Changed publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Changed phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164
Ciliopathies v0.269 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Ciliopathies v0.269 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Ciliopathies v0.269 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Ciliopathies v0.268 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Ciliopathies v0.267 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.266 TMEM231 Zornitza Stark reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.162 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Joubert syndrome and other neurological ciliopathies v0.162 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.162 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Joubert syndrome and other neurological ciliopathies v0.161 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Joubert syndrome and other neurological ciliopathies v0.160 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.159 TMEM231 Zornitza Stark reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.275 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Regression v0.275 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Regression v0.275 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296
Regression v0.274 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.273 TMEM216 Zornitza Stark Classified gene: TMEM216 as Red List (low evidence)
Regression v0.273 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Regression v0.272 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 2, MIM# 608091, MONDO:0011963, Meckel syndrome 2, MIM# 603194, MONDO:0011296; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6921 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Mendeliome v0.6921 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Mendeliome v0.6921 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296
Mendeliome v0.6920 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Mendeliome v0.6919 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6918 TMEM216 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.; to: p.Arg73Leu is a founder Jewish variant. Multiple families reported with JBTS and with Meckel syndrome.
Mendeliome v0.6918 TMEM216 Zornitza Stark edited their review of gene: TMEM216: Changed phenotypes: Joubert syndrome 2, MIM# 608091, MONDO:0011963, Meckel syndrome 2, MIM# 603194, MONDO:0011296
Ciliopathies v0.266 TMEM216 Zornitza Stark Tag founder tag was added to gene: TMEM216.
Ciliopathies v0.266 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Ciliopathies v0.266 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Ciliopathies v0.266 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296
Ciliopathies v0.265 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Ciliopathies v0.264 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Tag founder tag was added to gene: TMEM216.
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194 to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296
Joubert syndrome and other neurological ciliopathies v0.159 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194 to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194
Joubert syndrome and other neurological ciliopathies v0.158 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194
Ciliopathies v0.263 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091, Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.157 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Joubert syndrome and other neurological ciliopathies v0.156 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.155 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091, Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.272 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Regression v0.272 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Red List (Low Evidence).
Regression v0.272 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Regression v0.271 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.270 TMEM138 Zornitza Stark Classified gene: TMEM138 as Red List (low evidence)
Regression v0.270 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Red List (Low Evidence).
Regression v0.269 TMEM138 Zornitza Stark reviewed gene: TMEM138: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6918 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Mendeliome v0.6918 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Mendeliome v0.6918 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Mendeliome v0.6917 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Mendeliome v0.6916 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6915 TMEM138 Zornitza Stark changed review comment from: Ataxia not specifically reported in association with this gene.; to: At least 5 unrelated families reported.
Mendeliome v0.6915 TMEM138 Zornitza Stark edited their review of gene: TMEM138: Changed rating: GREEN; Changed publications: 22282472, 28102635, 27434533; Changed phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764
Ciliopathies v0.263 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Ciliopathies v0.263 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Ciliopathies v0.263 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Ciliopathies v0.262 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Ciliopathies v0.261 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.260 TMEM138 Zornitza Stark reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: 22282472, 28102635, 27434533; Phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.155 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Joubert syndrome and other neurological ciliopathies v0.155 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.155 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Joubert syndrome and other neurological ciliopathies v0.154 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Joubert syndrome and other neurological ciliopathies v0.153 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.152 TMEM138 Zornitza Stark reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: 22282472, 28102635, 27434533; Phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.152 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Joubert syndrome and other neurological ciliopathies v0.152 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.152 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896
Joubert syndrome and other neurological ciliopathies v0.151 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Joubert syndrome and other neurological ciliopathies v0.150 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.149 TCTN3 Zornitza Stark reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 32139166, 25118024; Phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.269 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Regression v0.269 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Red List (Low Evidence).
Regression v0.269 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Regression v0.268 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Regression v0.267 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.266 TCTN2 Zornitza Stark Classified gene: TCTN2 as Red List (low evidence)
Regression v0.266 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Red List (Low Evidence).
Regression v0.265 TCTN2 Zornitza Stark reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6915 TCTN2 Zornitza Stark changed review comment from: Multiple families reported, ataxia is part of the phenotype.; to: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model.
Mendeliome v0.6915 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Mendeliome v0.6915 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Mendeliome v0.6915 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Mendeliome v0.6914 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Mendeliome v0.6913 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6912 TCTN2 Zornitza Stark edited their review of gene: TCTN2: Changed publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Changed phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482
Ciliopathies v0.260 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Ciliopathies v0.260 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Ciliopathies v0.260 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Ciliopathies v0.259 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Ciliopathies v0.258 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.257 TCTN2 Zornitza Stark reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.149 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Joubert syndrome and other neurological ciliopathies v0.149 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.149 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Joubert syndrome and other neurological ciliopathies v0.148 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Joubert syndrome and other neurological ciliopathies v0.147 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.146 TCTN2 Zornitza Stark reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.265 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Regression v0.265 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Regression v0.265 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173; MONDO:0013608
Regression v0.264 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.263 TCTN1 Zornitza Stark Classified gene: TCTN1 as Red List (low evidence)
Regression v0.263 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Regression v0.262 TCTN1 Zornitza Stark reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 13, MIM# 614173, MONDO:0013608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6912 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Mendeliome v0.6912 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Mendeliome v0.6912 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173; MONDO:0013608
Mendeliome v0.6911 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Mendeliome v0.6910 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6909 TCTN1 Zornitza Stark changed review comment from: Rare cause of JBS, ataxia specifically mentioned in at least one individual.; to: Rare cause of JBS, at least 4 families reported, mouse model.
Mendeliome v0.6909 TCTN1 Zornitza Stark edited their review of gene: TCTN1: Changed phenotypes: Joubert syndrome 13, MIM# 614173, MONDO:0013608
Ciliopathies v0.257 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Ciliopathies v0.257 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Ciliopathies v0.257 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173; MONDO:0013608
Ciliopathies v0.256 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Ciliopathies v0.255 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.254 TCTN1 Zornitza Stark reviewed gene: TCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21725307, 26477546, 31302911, 26489806, 22693042; Phenotypes: Joubert syndrome 13, MIM# 614173, MONDO:0013608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.146 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Joubert syndrome and other neurological ciliopathies v0.146 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.146 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from Joubert syndrome 13, MIM# 614173 to Joubert syndrome 13, MIM# 614173; MONDO:0013608
Joubert syndrome and other neurological ciliopathies v0.145 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173
Joubert syndrome and other neurological ciliopathies v0.144 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Joubert syndrome and other neurological ciliopathies v0.143 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.142 TCTN1 Zornitza Stark reviewed gene: TCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21725307, 26477546, 31302911, 26489806, 22693042; Phenotypes: Joubert syndrome 13, MIM# 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Choanal atresia v1.0 Zornitza Stark promoted panel to version 1.0
Choanal atresia v0.35 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to 15235037
Choanal atresia v0.34 SEMA3E Zornitza Stark changed review comment from: Two individuals reported, one with translocation and one with a de novo missense variant, p.Ser703Leu. Note this variant is present in 7 individuals in gnomad.; to: Two individuals reported initially, one with translocation and one with a de novo missense variant, p.Ser703Leu. Note this variant is present in 7 individuals in gnomad.

Another recent report recently PMID 31691538 in a fetus with features of CHARGE, de novo missense. Some experimental data to support role in development.
Choanal atresia v0.34 SEMA3E Zornitza Stark edited their review of gene: SEMA3E: Changed publications: 15235037, 31691538, 31464029
Choanal atresia v0.34 SEMA3E Zornitza Stark edited their review of gene: SEMA3E: Changed publications: 15235037, 31691538
Choanal atresia v0.34 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Choanal atresia v0.34 SEMA3E Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence).
Choanal atresia v0.34 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from CHARGE syndrome, 214800 to CHARGE syndrome, MIM# 214800; MONDO:0008965
Choanal atresia v0.33 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Choanal atresia v0.32 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: None; Publications: 15235037; Phenotypes: CHARGE syndrome, MIM# 214800, MONDO:0008965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Choanal atresia v0.32 Zornitza Stark removed gene:SALL4 from the panel
Choanal atresia v0.31 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Choanal atresia v0.31 KMT2D Zornitza Stark Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Choanal atresia v0.31 KMT2D Zornitza Stark Publications for gene: KMT2D were set to 27991736
Choanal atresia v0.30 KMT2D Zornitza Stark edited their review of gene: KMT2D: Changed publications: 24705355, 27991736
Choanal atresia v0.30 KMT2D Zornitza Stark Classified gene: KMT2D as Amber List (moderate evidence)
Choanal atresia v0.30 KMT2D Zornitza Stark Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Choanal atresia v0.29 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Choanal atresia. Sources: Expert Review
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 27991736
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920
Review for gene: KMT2D was set to AMBER
Added comment: Choanal atresia is a rare feature of Kabuki syndrome.
Sources: Expert Review
Choanal atresia v0.28 RERE Zornitza Stark Marked gene: RERE as ready
Choanal atresia v0.28 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Choanal atresia v0.28 RERE Zornitza Stark Classified gene: RERE as Green List (high evidence)
Choanal atresia v0.28 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Choanal atresia v0.27 RERE Zornitza Stark gene: RERE was added
gene: RERE was added to Choanal atresia. Sources: Expert Review
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RERE were set to 27087320; 29330883
Phenotypes for gene: RERE were set to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Review for gene: RERE was set to GREEN
Added comment: A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype.

Choanal atresia has only been reported in association with the recurrent p.(Leu1438_His1439dup) variant.
Sources: Expert Review
Choanal atresia v0.26 SHH Zornitza Stark Marked gene: SHH as ready
Choanal atresia v0.26 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Choanal atresia v0.26 SHH Zornitza Stark Classified gene: SHH as Green List (high evidence)
Choanal atresia v0.26 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Choanal atresia v0.25 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Choanal atresia. Sources: Expert list
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHH were set to Single median maxillary central incisor, MIM# 147250
Review for gene: SHH was set to GREEN
Added comment: Well established gene-disease association. Choanal atresia and cribriform aperture stenosis are a feature.
Sources: Expert list
Mendeliome v0.6909 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to 31600781
Mendeliome v0.6908 SMCHD1 Zornitza Stark edited their review of gene: SMCHD1: Added comment: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature. More than 30 unrelated individuals reported. Caused by gain of function missense variants with the extended ATPase domain.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: 28067909; Changed phenotypes: Bosma arhinia microphthalmia syndrome, MIM# 603457, Arhinia, choanal atresia, microphthalmia MONDO:0011323; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6908 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from Bosma arhinia microphthalmia syndrome, MIM 603457; Fascioscapulohumeral muscular dystrophy 2, digenic to Bosma arhinia microphthalmia syndrome, MIM 603457; Arhinia, choanal atresia, microphthalmia MONDO:0011323; Fascioscapulohumeral muscular dystrophy 2, digenic
Mendeliome v0.6907 SMCHD1 Zornitza Stark Mode of pathogenicity for gene: SMCHD1 was changed from to Other
Choanal atresia v0.24 SMCHD1 Zornitza Stark Mode of pathogenicity for gene: SMCHD1 was changed from None to Other
Choanal atresia v0.23 SMCHD1 Zornitza Stark changed review comment from: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.

More than 30 unrelated individuals reported.

aused by gain of function missense variants with the extended ATPase domain.
Sources: Expert list; to: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.

More than 30 unrelated individuals reported.

Caused by gain of function missense variants with the extended ATPase domain.
Sources: Expert list
Choanal atresia v0.23 SMCHD1 Zornitza Stark changed review comment from: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.

More than 30 unrelated individuals reported.
Sources: Expert list; to: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.

More than 30 unrelated individuals reported.

aused by gain of function missense variants with the extended ATPase domain.
Sources: Expert list
Choanal atresia v0.23 SMCHD1 Zornitza Stark edited their review of gene: SMCHD1: Changed mode of pathogenicity: Other; Changed phenotypes: Bosma arhinia microphthalmia syndrome, MIM# 603457, Arhinia, choanal atresia, microphthalmia MONDO:0011323
Anophthalmia_Microphthalmia_Coloboma v1.4 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from Bosma arhinia microphthalmia syndrome (MIM#603457) to Bosma arhinia microphthalmia syndrome (MIM#603457); Arhinia, choanal atresia, microphthalmia MONDO:0011323
Choanal atresia v0.23 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Choanal atresia v0.23 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Choanal atresia v0.23 SMCHD1 Zornitza Stark Classified gene: SMCHD1 as Green List (high evidence)
Choanal atresia v0.23 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Choanal atresia v0.22 SMCHD1 Zornitza Stark gene: SMCHD1 was added
gene: SMCHD1 was added to Choanal atresia. Sources: Expert list
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMCHD1 were set to 28067909
Phenotypes for gene: SMCHD1 were set to Bosma arhinia microphthalmia syndrome, MIM# 603457; Arhinia, choanal atresia, microphthalmia MONDO:0011323
Review for gene: SMCHD1 was set to GREEN
Added comment: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.

More than 30 unrelated individuals reported.
Sources: Expert list
Choanal atresia v0.21 PTPN14 Zornitza Stark edited their review of gene: PTPN14: Changed phenotypes: Choanal atresia and lymphoedema, MIM# 613611
Choanal atresia v0.21 PTPN14 Zornitza Stark Marked gene: PTPN14 as ready
Choanal atresia v0.21 PTPN14 Zornitza Stark Gene: ptpn14 has been classified as Amber List (Moderate Evidence).
Choanal atresia v0.21 PTPN14 Zornitza Stark Phenotypes for gene: PTPN14 were changed from Choanal atresia and lymphedema, 613611 to Choanal atresia and lymphoedema, MIM#613611; MONDO:0013324
Choanal atresia v0.20 PTPN14 Zornitza Stark Publications for gene: PTPN14 were set to 20826270
Choanal atresia v0.19 PTPN14 Zornitza Stark Classified gene: PTPN14 as Amber List (moderate evidence)
Choanal atresia v0.19 PTPN14 Zornitza Stark Gene: ptpn14 has been classified as Amber List (Moderate Evidence).
Choanal atresia v0.18 PTPN14 Zornitza Stark reviewed gene: PTPN14: Rating: AMBER; Mode of pathogenicity: None; Publications: 20826270, https://doi.org/10.1016/j.mgene.2017.07.006; Phenotypes: Choanal atresia and lymphedema, MIM# 613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Choanal atresia v0.18 USP9X Zornitza Stark Marked gene: USP9X as ready
Choanal atresia v0.18 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Choanal atresia v0.18 USP9X Zornitza Stark Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted 300968 to Mental retardation, X-linked 99, syndromic, female-restricted MIM#300968; MONDO:0010502
Choanal atresia v0.17 USP9X Zornitza Stark Publications for gene: USP9X were set to 26833328
Choanal atresia v0.16 USP9X Zornitza Stark reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833328, 33638286, 33298948; Phenotypes: Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968; Mode of inheritance: Other
Deafness_IsolatedAndComplex v1.62 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Deafness_IsolatedAndComplex v1.62 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.62 TXNL4A Zornitza Stark Classified gene: TXNL4A as Green List (high evidence)
Deafness_IsolatedAndComplex v1.62 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.61 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Deafness_IsolatedAndComplex. Sources: Expert Review
SV/CNV, 5'UTR tags were added to gene: TXNL4A.
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNL4A were set to 25434003
Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
Review for gene: TXNL4A was set to GREEN
Added comment: Burn-McKeown syndrome is a rare condition in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Note 34-bp deletion in the promoter of the TXNL4A gene (chr18:77,748,581-77,748,614del, GRCh37) was identified in heterozygous or homozygous state in all the families reported originally. Haplotype analysis revealed that the promoter deletions were located on different haplotypes and thus most likely occurred due to recurrent events rather than a founder effect.
Sources: Expert Review
Clefting disorders v0.107 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Clefting disorders v0.107 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Clefting disorders v0.107 TXNL4A Zornitza Stark Tag SV/CNV tag was added to gene: TXNL4A.
Tag 5'UTR tag was added to gene: TXNL4A.
Clefting disorders v0.107 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from BURN-MCKEOWN SYNDROME; BMKS; Cleft palate to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
Clefting disorders v0.106 TXNL4A Zornitza Stark reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.26 TXNL4A Zornitza Stark Tag SV/CNV tag was added to gene: TXNL4A.
Tag 5'UTR tag was added to gene: TXNL4A.
Mandibulofacial Acrofacial dysostosis v0.26 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Mandibulofacial Acrofacial dysostosis v0.26 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.26 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
Mandibulofacial Acrofacial dysostosis v0.25 TXNL4A Zornitza Stark Publications for gene: TXNL4A were set to
Mandibulofacial Acrofacial dysostosis v0.24 TXNL4A Zornitza Stark Mode of inheritance for gene: TXNL4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.23 TXNL4A Zornitza Stark reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6906 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Mendeliome v0.6906 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Mendeliome v0.6906 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
Mendeliome v0.6905 TXNL4A Zornitza Stark Publications for gene: TXNL4A were set to
Mendeliome v0.6904 TXNL4A Zornitza Stark Mode of inheritance for gene: TXNL4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6903 TXNL4A Zornitza Stark Tag SV/CNV tag was added to gene: TXNL4A.
Tag 5'UTR tag was added to gene: TXNL4A.
Mendeliome v0.6903 TXNL4A Zornitza Stark reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.54 TXNL4A Zornitza Stark reviewed gene: TXNL4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Choanal atresia v0.16 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from Burn-McKeown syndrome 608572 to Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
Choanal atresia v0.15 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Choanal atresia v0.15 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Choanal atresia v0.15 TXNL4A Zornitza Stark Tag SV/CNV tag was added to gene: TXNL4A.
Tag 5'UTR tag was added to gene: TXNL4A.
Choanal atresia v0.15 TXNL4A Zornitza Stark reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.188 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Polydactyly v0.188 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Polydactyly v0.188 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from to Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420; MONDO:0010036
Polydactyly v0.187 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to
Polydactyly v0.186 SPINT2 Zornitza Stark Tag founder tag was added to gene: SPINT2.
Polydactyly v0.186 SPINT2 Zornitza Stark reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19185281, 20009592, 24142340, 30445423; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420, MONDO:0010036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6903 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from Diarrhoea 3, secretory sodium, congenital, syndromic 270420 to Diarrhoea 3, secretory sodium, congenital, syndromic 270420; MONDO:0010036
Mendeliome v0.6902 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to 24142340; 30445423
Mendeliome v0.6901 SPINT2 Zornitza Stark Tag founder tag was added to gene: SPINT2.
Mendeliome v0.6901 SPINT2 Zornitza Stark changed review comment from: More than 15 unrelated families reported.; to: Well established gene-disease association. PMID 30445423 reviews 34 patients from 26 families: 13 different variants in SPINT2 were seen, including 3 premature termination codons, 2 start codon removals, and 3 canonical splice site variants, supporting loss of function as the pathogenic mechanism. The most commonly observed variant was Y163C, observed in 40 (59%) of 68 disease alleles. Seven unrelated patients with the Y163C mutation had a shared haplotype, suggesting that it is a founder mutation. Choanal atresia (20/34) and keratitis of infantile onset (26/34) were the most common findings. All patients presented with intractable diarrhoea, with onset typically in the first 2 weeks of life. Episodes of intestinal pseudoobstruction sometimes preceded the onset of diarrhoea. Characteristic epithelial tufts on intestinal histology were seen in 13 of the 34 patients.
Mendeliome v0.6901 SPINT2 Zornitza Stark edited their review of gene: SPINT2: Changed publications: 19185281, 20009592, 24142340, 30445423; Changed phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420, MONDO:0010036
Congenital Diarrhoea v1.2 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from Diarrhoea 3, secretory sodium, congenital, syndromic 270420 to Diarrhoea 3, secretory sodium, congenital, syndromic 270420; MONDO:0010036
Congenital Diarrhoea v1.1 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to 24142340; 30445423
Congenital Diarrhoea v1.0 SPINT2 Zornitza Stark edited their review of gene: SPINT2: Changed publications: 19185281, 20009592, 24142340, 30445423
Congenital Diarrhoea v1.0 SPINT2 Zornitza Stark Tag founder tag was added to gene: SPINT2.
Choanal atresia v0.15 SPINT2 Zornitza Stark Tag founder tag was added to gene: SPINT2.
Congenital Diarrhoea v1.0 SPINT2 Zornitza Stark changed review comment from: More than 15 unrelated families reported.; to: Well established gene-disease association. PMID 30445423 reviews 34 patients from 26 families: 13 different variants in SPINT2 were seen, including 3 premature termination codons, 2 start codon removals, and 3 canonical splice site variants, supporting loss of function as the pathogenic mechanism. The most commonly observed variant was Y163C, observed in 40 (59%) of 68 disease alleles. Seven unrelated patients with the Y163C mutation had a shared haplotype, suggesting that it is a founder mutation. Choanal atresia (20/34) and keratitis of infantile onset (26/34) were the most common findings. All patients presented with intractable diarrhoea, with onset typically in the first 2 weeks of life. Episodes of intestinal pseudoobstruction sometimes preceded the onset of diarrhoea. Characteristic epithelial tufts on intestinal histology were seen in 13 of the 34 patients.
Congenital Diarrhoea v1.0 SPINT2 Zornitza Stark edited their review of gene: SPINT2: Changed phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420, MONDO:0010036
Choanal atresia v0.15 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Choanal atresia v0.15 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Choanal atresia v0.15 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from Diarrhea 3, secretory sodium, congenital, syndromic, MIM# 270420; MONDO:0010036 to Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420; MONDO:0010036
Choanal atresia v0.14 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from Diarrhea 3, secretory sodium, congenital, syndromic 270420 to Diarrhea 3, secretory sodium, congenital, syndromic, MIM# 270420; MONDO:0010036
Choanal atresia v0.13 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to
Choanal atresia v0.12 SPINT2 Zornitza Stark reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19185281, 20009592, 24142340, 30445423; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6901 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Mendeliome v0.6901 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Mendeliome v0.6901 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437
Mendeliome v0.6900 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to
Mendeliome v0.6899 FOXE1 Zornitza Stark Mode of inheritance for gene: FOXE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6898 FOXE1 Zornitza Stark reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850, MONDO:0009437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Choanal atresia v0.12 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from Bamforth-Lazarus syndrome, MIM# 241850 to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437
Choanal atresia v0.11 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Choanal atresia v0.11 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Choanal atresia v0.11 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from Bamforth-Lazarus syndrome 241850 to Bamforth-Lazarus syndrome, MIM# 241850
Choanal atresia v0.10 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to 20453517; 24219130; 9697705
Choanal atresia v0.9 FOXE1 Zornitza Stark reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Choanal atresia v0.9 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Choanal atresia v0.9 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Choanal atresia v0.9 FGFR3 Zornitza Stark Publications for gene: FGFR3 were set to 20199409; 17935505; 11426459
Choanal atresia v0.8 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31016899, 11426459; Phenotypes: Crouzon syndrome with acanthosis nigricans 612247; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.98 MIB1 Zornitza Stark Marked gene: MIB1 as ready
Congenital Heart Defect v0.98 MIB1 Zornitza Stark Gene: mib1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.98 MIB1 Zornitza Stark Classified gene: MIB1 as Green List (high evidence)
Congenital Heart Defect v0.98 MIB1 Zornitza Stark Gene: mib1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.97 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIB1 were set to 33057194
Phenotypes for gene: MIB1 were set to Congenital heart disease
Review for gene: MIB1 was set to GREEN
Added comment: Established congenital cardiac disease gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert Review
Congenital Heart Defect v0.97 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIB1 were set to 33057194
Phenotypes for gene: MIB1 were set to Congenital heart disease
Review for gene: MIB1 was set to GREEN
Added comment: Established congenital cardiac disease gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert Review
Mendeliome v0.6898 MIB1 Zornitza Stark Marked gene: MIB1 as ready
Mendeliome v0.6898 MIB1 Zornitza Stark Added comment: Comment when marking as ready: Amber for LVNC/cardiomyopathy. Green for congenital heart disease.
Mendeliome v0.6898 MIB1 Zornitza Stark Gene: mib1 has been classified as Green List (High Evidence).
Mendeliome v0.6898 MIB1 Zornitza Stark Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 MIM#615092 to Left ventricular noncompaction 7 MIM#615092; cardiomyopathy; congenital heart disease
Mendeliome v0.6897 MIB1 Zornitza Stark reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30322850, 23314057; Phenotypes: Left ventricular noncompaction 7, MIM# 615092, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.62 MIB1 Zornitza Stark Marked gene: MIB1 as ready
Cardiomyopathy_Paediatric v0.62 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.62 MIB1 Zornitza Stark Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 to Left ventricular noncompaction 7, MIM# 615092; cardiomyopathy
Cardiomyopathy_Paediatric v0.61 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.61 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.60 MIB1 Zornitza Stark reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057; Phenotypes: Left ventricular noncompaction 7, MIM# 615092, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6897 ANO3 Zornitza Stark Marked gene: ANO3 as ready
Mendeliome v0.6897 ANO3 Zornitza Stark Gene: ano3 has been classified as Green List (High Evidence).
Mendeliome v0.6897 ANO3 Zornitza Stark Phenotypes for gene: ANO3 were changed from to Dystonia 24, MIM#615034; familial form of cranio-cervical dystonia
Mendeliome v0.6896 ANO3 Zornitza Stark Publications for gene: ANO3 were set to
Mendeliome v0.6895 ANO3 Zornitza Stark Mode of inheritance for gene: ANO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.262 ANO3 Zornitza Stark Marked gene: ANO3 as ready
Regression v0.262 ANO3 Zornitza Stark Gene: ano3 has been classified as Red List (Low Evidence).
Regression v0.262 ANO3 Zornitza Stark Phenotypes for gene: ANO3 were changed from to Dystonia 24, 615034; familial form of cranio-cervical dystonia
Regression v0.261 ANO3 Zornitza Stark Mode of inheritance for gene: ANO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.260 ANO3 Zornitza Stark Classified gene: ANO3 as Red List (low evidence)
Regression v0.260 ANO3 Zornitza Stark Gene: ano3 has been classified as Red List (Low Evidence).
Regression v0.259 ANO3 Zornitza Stark edited their review of gene: ANO3: Changed rating: RED
Regression v0.259 ANO3 Zornitza Stark reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 24, 615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6894 ANO3 Zornitza Stark reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33388357; Phenotypes: Dystonia 24, MIM#615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.20 IPO8 Zornitza Stark Marked gene: IPO8 as ready
Aortopathy_Connective Tissue Disorders v1.20 IPO8 Zornitza Stark Gene: ipo8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6894 IPO8 Zornitza Stark Marked gene: IPO8 as ready
Mendeliome v0.6894 IPO8 Zornitza Stark Gene: ipo8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6894 IPO8 Zornitza Stark Classified gene: IPO8 as Amber List (moderate evidence)
Mendeliome v0.6894 IPO8 Zornitza Stark Gene: ipo8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6893 IPO8 Zornitza Stark gene: IPO8 was added
gene: IPO8 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IPO8 were set to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Review for gene: IPO8 was set to AMBER
Added comment: 12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression.
Sources: Expert Review
Aortopathy_Connective Tissue Disorders v1.20 IPO8 Zornitza Stark Phenotypes for gene: IPO8 were changed from to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Aortopathy_Connective Tissue Disorders v1.19 IPO8 Zornitza Stark Classified gene: IPO8 as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v1.19 IPO8 Zornitza Stark Gene: ipo8 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.60 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Conductive and sensorineural hearing loss to Conductive and sensorineural hearing loss; CEBALID syndrome, MIM# 618774
Deafness_IsolatedAndComplex v1.59 MN1 Zornitza Stark Marked gene: MN1 as ready
Deafness_IsolatedAndComplex v1.59 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.59 MN1 Zornitza Stark Classified gene: MN1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.59 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Clefting disorders v0.106 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Cleft palate to Cleft palate; CEBALID syndrome, MIM# 618774
Clefting disorders v0.105 MN1 Zornitza Stark Marked gene: MN1 as ready
Clefting disorders v0.105 MN1 Zornitza Stark Gene: mn1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.105 MN1 Zornitza Stark Classified gene: MN1 as Amber List (moderate evidence)
Clefting disorders v0.105 MN1 Zornitza Stark Gene: mn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6892 DDB1 Zornitza Stark Publications for gene: DDB1 were set to
Mendeliome v0.6891 DDB1 Zornitza Stark Deleted their comment
Mendeliome v0.6891 DDB1 Zornitza Stark edited their review of gene: DDB1: Added comment: 8 individuals with de novo missense variants and varying degrees of intellectual disability, hypotonia, and some malformations, brachydactyly and syndactyly. Functional evidence of abnormal DNA repair in patient lymphoblasts.; Changed publications: 33743206
Intellectual disability syndromic and non-syndromic v0.3549 DDB1 Zornitza Stark Publications for gene: DDB1 were set to
Dilated Cardiomyopathy v0.104 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Dilated Cardiomyopathy v0.104 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.104 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from to Cardiomyopathy, dilated, 1E, MIM# 601154
Dilated Cardiomyopathy v0.103 SCN5A Zornitza Stark Publications for gene: SCN5A were set to
Dilated Cardiomyopathy v0.102 SCN5A Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.101 SCN5A Zornitza Stark reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15671429, 15671429, 19808398, 21596231, 20458009, 22675453, 22766342, 22999724, 29871609, 29506689, 31514951, 31930659, 31520233, 17512504, 21824921, 30218094; Phenotypes: Cardiomyopathy, dilated, 1E, MIM# 601154; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.60 MIB1 Ain Roesley changed review comment from: PMID: 30322850
4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)
Only W271G and the fs demonstrated reduced NOTCh signaling
Mutant zebrafish were evaluated for degree of malformation

Associated with LVNC disputed by clingen
NO association with DCM by clingen; to: PMID: 30322850
4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs)
Only W271G and the fs demonstrated reduced NOTCh signaling
Mutant zebrafish were evaluated for degree of malformation

Association with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real

NO association with DCM by clingen
Cardiomyopathy_Paediatric v0.60 MIB1 Ain Roesley edited their review of gene: MIB1: Changed publications: 30322850, 23314057
Aortopathy_Connective Tissue Disorders v1.18 IPO8 Sue White gene: IPO8 was added
gene: IPO8 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Penetrance for gene: IPO8 were set to Complete
Review for gene: IPO8 was set to AMBER
Added comment: 12 individuals from 9 unrelated families in a cohort submitted for publication with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.58 MN1 Michelle Torres gene: MN1 was added
gene: MN1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MN1 were set to 31834374
Phenotypes for gene: MN1 were set to Conductive and sensorineural hearing loss
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to GREEN
Added comment: MN1 is associated to CEBALID syndrome (MIM# 618774), and 16 out of 20 individuals with this condition reported by PMID 31834374, presented conductive or sensorineural hearing loss, accompanied by other features such as facial dysmorphism and ID.
Sources: Literature
Clefting disorders v0.104 MN1 Michelle Torres gene: MN1 was added
gene: MN1 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MN1 were set to 33351141; 31834374; 33351070
Phenotypes for gene: MN1 were set to Cleft palate
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to AMBER
Added comment: MN1 is associated to CEBALID syndrome (MIM# 618774), and many individuals have been reported with a high-arched palate. So far, 2 individuals have been reported with cleft palate, one with a severe form of the condition, associated with a truncating variant at the C-terminal, which are known to result in gain of function (PMID 31834374). And more recently, a NMD variant, established by RT-PCR and Western Blot, has been identified in a family with cleft palate and conductive hearing loss, but no ID and no other dysmorphic features (PMID 33351070). PMID 33351141 mentions that LoF is likely associated with a milder phenotype despite the high MAF of some NMD in the population, as these are in low complexity region.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3548 DDB1 Sue White reviewed gene: DDB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33743206; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Choanal atresia v0.8 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Choanal atresia v0.8 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Choanal atresia v0.8 FGFR2 Zornitza Stark Deleted their comment
Choanal atresia v0.8 FGFR2 Zornitza Stark commented on gene: FGFR2: Choanal atresia/stenosis is a feature of several FGFR2-related disorders. Disease associations are well established.
Choanal atresia v0.8 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Apert syndrome 101200, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Craniosynostosis, nonspecific, Pfeiffer syndrome 101600, Craniofacial-skeletal-dermatologic dysplasia 101600, Beare-Stevenson cutis gyrata syndrome 123790; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.6 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Osteopetrosis v0.6 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Osteopetrosis v0.6 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from to Raine syndrome, MIM# 259775; MONDO:0009821
Osteopetrosis v0.5 FAM20C Zornitza Stark Publications for gene: FAM20C were set to
Osteopetrosis v0.4 FAM20C Zornitza Stark Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.3 FAM20C Zornitza Stark reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome, MIM# 259775, MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6891 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Mendeliome v0.6891 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Mendeliome v0.6891 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from to Raine syndrome, MIM# 259775; MONDO:0009821
Mendeliome v0.6890 FAM20C Zornitza Stark Publications for gene: FAM20C were set to
Mendeliome v0.6889 FAM20C Zornitza Stark Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6888 FAM20C Zornitza Stark reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome, MIM# 259775, MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Choanal atresia v0.8 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Choanal atresia v0.8 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Choanal atresia v0.8 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from Raine syndrome 259775 to Raine syndrome, MIM# 259775; MONDO:0009821
Choanal atresia v0.7 FAM20C Zornitza Stark Publications for gene: FAM20C were set to 25974638
Choanal atresia v0.6 FAM20C Zornitza Stark reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome, MIM# 259775, MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Choanal atresia v0.6 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Choanal atresia v0.6 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Choanal atresia v0.6 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis, Guion-Almeida type 610536 to Mandibulofacial dysostosis, Guion-Almeida type MIM#610536; MONDO:0012516
Choanal atresia v0.5 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305528; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Choanal atresia v0.5 CTNND1 Zornitza Stark Marked gene: CTNND1 as ready
Choanal atresia v0.5 CTNND1 Zornitza Stark Gene: ctnnd1 has been classified as Green List (High Evidence).
Choanal atresia v0.5 CTNND1 Zornitza Stark Phenotypes for gene: CTNND1 were changed from chonal atresia to Blepharocheilodontic syndrome 2, MIM# 617681; MONDO:0040503; chonal atresia
Choanal atresia v0.4 CTNND1 Zornitza Stark Mode of inheritance for gene: CTNND1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Choanal atresia v0.3 CTNND1 Zornitza Stark reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: Blepharocheilodontic syndrome 2, MIM# 617681, MONDO:0040503; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Choanal atresia v0.3 CHD7 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, choanal atresia is a key feature.
Choanal atresia v0.3 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Choanal atresia v0.3 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Choanal atresia v0.3 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE syndrome, 214800 to CHARGE syndrome, MIM# 214800; MONDO:0008965
Choanal atresia v0.2 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800, MONDO:0008965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Choanal atresia v0.2 Zornitza Stark Panel status changed from deleted to public
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Choanal atresia v0.1 SEMA3E Zornitza Stark Source Genomics England PanelApp was added to SEMA3E.
Added phenotypes CHARGE syndrome, 214800 for gene: SEMA3E
Choanal atresia v0.1 SALL4 Zornitza Stark Source Genomics England PanelApp was added to SALL4.
Added phenotypes Duane-radial ray syndrome 607323 for gene: SALL4
Choanal atresia v0.1 PTPN14 Zornitza Stark Source Genomics England PanelApp was added to PTPN14.
Added phenotypes Choanal atresia and lymphedema, 613611 for gene: PTPN14
Choanal atresia v0.1 USP9X Zornitza Stark Source Genomics England PanelApp was added to USP9X.
Added phenotypes Mental retardation, X-linked 99, syndromic, female-restricted 300968 for gene: USP9X
Choanal atresia v0.1 TXNL4A Zornitza Stark Source Genomics England PanelApp was added to TXNL4A.
Added phenotypes Burn-McKeown syndrome 608572 for gene: TXNL4A
Choanal atresia v0.1 SPINT2 Zornitza Stark Source Genomics England PanelApp was added to SPINT2.
Added phenotypes Diarrhea 3, secretory sodium, congenital, syndromic 270420 for gene: SPINT2
Choanal atresia v0.1 FOXE1 Zornitza Stark Source Genomics England PanelApp was added to FOXE1.
Added phenotypes Bamforth-Lazarus syndrome 241850 for gene: FOXE1
Publications for gene FOXE1 were updated from 20453517; 24219130; 9697705 to 20453517; 24219130; 9697705
Choanal atresia v0.1 FGFR3 Zornitza Stark Source Genomics England PanelApp was added to FGFR3.
Added phenotypes Crouzon syndrome with acanthosis nigricans 612247 for gene: FGFR3
Publications for gene FGFR3 were updated from 11426459; 17935505; 20199409 to 20199409; 17935505; 11426459
Choanal atresia v0.1 FGFR2 Zornitza Stark Source Genomics England PanelApp was added to FGFR2.
Added phenotypes Apert syndrome 101200; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Craniosynostosis, nonspecific; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Beare-Stevenson cutis gyrata syndrome 123790 for gene: FGFR2
Choanal atresia v0.1 FAM20C Zornitza Stark Source Genomics England PanelApp was added to FAM20C.
Added phenotypes Raine syndrome 259775 for gene: FAM20C
Choanal atresia v0.1 EFTUD2 Zornitza Stark Source Genomics England PanelApp was added to EFTUD2.
Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 for gene: EFTUD2
Choanal atresia v0.1 CTNND1 Zornitza Stark Source Genomics England PanelApp was added to CTNND1.
Added phenotypes chonal atresia for gene: CTNND1
Choanal atresia v0.1 CHD7 Zornitza Stark Source Genomics England PanelApp was added to CHD7.
Added phenotypes CHARGE syndrome, 214800 for gene: CHD7
Choanal atresia v0.0 Zornitza Stark Panel deleted
Choanal atresia v0.0 SEMA3E Zornitza Stark gene: SEMA3E was added
gene: SEMA3E was added to Choanal atresia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEMA3E were set to CHARGE syndrome, 214800
Choanal atresia v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Choanal atresia. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Other,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome 607323
Choanal atresia v0.0 PTPN14 Zornitza Stark gene: PTPN14 was added
gene: PTPN14 was added to Choanal atresia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN14 were set to 20826270
Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema, 613611
Choanal atresia v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Choanal atresia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: USP9X 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: USP9X were set to 26833328
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, syndromic, female-restricted 300968
Choanal atresia v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Choanal atresia. Sources: Expert Review Green,Research
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNL4A were set to 25434003
Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome 608572
Mode of pathogenicity for gene: TXNL4A was set to Other - please provide details in the comments
Choanal atresia v0.0 SPINT2 Zornitza Stark gene: SPINT2 was added
gene: SPINT2 was added to Choanal atresia. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic 270420
Choanal atresia v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Choanal atresia. Sources: Expert Review Green,Literature,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXE1 were set to 20453517; 24219130; 9697705
Phenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome 241850
Choanal atresia v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Choanal atresia. Sources: UKGTN,Eligibility statement prior genetic testing,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR3 were set to 11426459; 17935505; 20199409
Phenotypes for gene: FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247
Choanal atresia v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Choanal atresia. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGFR2 were set to Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Apert syndrome 101200; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Beare-Stevenson cutis gyrata syndrome 123790; Craniosynostosis, nonspecific
Choanal atresia v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Choanal atresia. Sources: Expert Review Green,Literature,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 25974638
Phenotypes for gene: FAM20C were set to Raine syndrome 259775
Choanal atresia v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Choanal atresia. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 22305528
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536
Choanal atresia v0.0 CTNND1 Zornitza Stark gene: CTNND1 was added
gene: CTNND1 was added to Choanal atresia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND1 were set to 32196547
Phenotypes for gene: CTNND1 were set to chonal atresia
Choanal atresia v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Choanal atresia. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800
Choanal atresia v0.0 Zornitza Stark Added panel Choanal atresia
Cardiomyopathy_Paediatric v0.60 MIB1 Ain Roesley reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30322850; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6888 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection; POLR3A-related spastic ataxia
Mendeliome v0.6887 POLR3A Zornitza Stark Publications for gene: POLR3A were set to
Mendeliome v0.6886 POLR3A Zornitza Stark Tag deep intronic tag was added to gene: POLR3A.
Cardiomyopathy_Paediatric v0.60 FLII Zornitza Stark changed review comment from: Two unrelated families reported with homozygous missense variants. Emerging evidence.
Sources: Literature; to: Two unrelated families reported with homozygous missense variants. Emerging evidence: we are aware of two more families.
Sources: Literature
Cardiomyopathy_Paediatric v0.60 FLII Zornitza Stark edited their review of gene: FLII: Changed rating: GREEN
Cardiomyopathy_Paediatric v0.60 FLII Zornitza Stark Publications for gene: FLII were set to 32870709
Cardiomyopathy_Paediatric v0.59 FLII Zornitza Stark Classified gene: FLII as Green List (high evidence)
Cardiomyopathy_Paediatric v0.59 FLII Zornitza Stark Gene: flii has been classified as Green List (High Evidence).
Ciliopathies v0.254 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Ciliopathies v0.254 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Ciliopathies v0.254 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from to Nephronophthisis 16, MIM# 615382; MONDO:0014158
Ciliopathies v0.253 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Ciliopathies v0.252 ANKS6 Zornitza Stark Mode of inheritance for gene: ANKS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.251 ANKS6 Zornitza Stark reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23793029, 31678577, 31635528, 26039630, 24610927; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6886 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Mendeliome v0.6886 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Mendeliome v0.6886 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from to Nephronophthisis 16, MIM# 615382; MONDO:0014158
Mendeliome v0.6885 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Mendeliome v0.6884 ANKS6 Zornitza Stark Mode of inheritance for gene: ANKS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6883 ANKS6 Zornitza Stark reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23793029, 31678577, 31635528, 26039630, 24610927; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.251 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498; MONDO:0012680
Ciliopathies v0.250 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to 17618285, 23559409
Ciliopathies v0.249 GLIS2 Zornitza Stark edited their review of gene: GLIS2: Changed publications: 17618285, 23559409, 31676329; Changed phenotypes: Nephronophthisis 7, OMIM#611498, MONDO:0012680
Mendeliome v0.6883 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498; MONDO:0012680
Mendeliome v0.6882 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to 17618285; 23559409
Mendeliome v0.6881 GLIS2 Zornitza Stark edited their review of gene: GLIS2: Changed publications: 17618285, 23559409, 31676329; Changed phenotypes: Nephronophthisis 7, OMIM#611498, MONDO:0012680
Renal Ciliopathies and Nephronophthisis v0.139 GLIS2 Zornitza Stark edited their review of gene: GLIS2: Changed phenotypes: Nephronophthisis 7, OMIM#611498, MONDO:0012680
Renal Ciliopathies and Nephronophthisis v0.139 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498; MONDO:0012680
Renal Ciliopathies and Nephronophthisis v0.138 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to 17618285; 23559409
Renal Ciliopathies and Nephronophthisis v0.137 GLIS2 Zornitza Stark reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31676329; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.137 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Renal Ciliopathies and Nephronophthisis v0.137 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.137 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from to Nephronophthisis 16, MIM# 615382; MONDO:0014158
Renal Ciliopathies and Nephronophthisis v0.136 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to 23793029; 31678577; 31635528; 26039630; 24610927
Renal Ciliopathies and Nephronophthisis v0.136 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Renal Ciliopathies and Nephronophthisis v0.135 ANKS6 Zornitza Stark Mode of inheritance for gene: ANKS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.134 ANKS6 Zornitza Stark reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23793029, 31678577, 31635528, 26039630, 24610927; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pancreatitis v1.1 CLDN2 Zornitza Stark edited their review of gene: CLDN2: Added comment: Azoospermia: single multigenerational family reported.; Changed publications: 29884332, 31163246, 31320686; Changed phenotypes: Susceptibility to pancreatitis, Azoospermia, obstructive, with nephrolithiasis, MIM# 301060; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6881 CLDN2 Zornitza Stark Phenotypes for gene: CLDN2 were changed from Susceptibility to pancreatitis to Susceptibility to pancreatitis; Azoospermia, obstructive, with nephrolithiasis, MIM# 301060
Mendeliome v0.6880 CLDN2 Zornitza Stark Publications for gene: CLDN2 were set to 29884332; 31163246
Mendeliome v0.6879 CLDN2 Zornitza Stark Mode of inheritance for gene: CLDN2 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6878 CLDN2 Zornitza Stark changed review comment from: Numerous publications linking common variants at this locus with susceptibility to pancreatitis. KO mice do not have a pancreatic phenotype. Likely polygenic susceptibility rather than Mendelian disorder.; to: Pancreatitis: Numerous publications linking common variants at this locus with susceptibility to pancreatitis. KO mice do not have a pancreatic phenotype. Likely polygenic susceptibility rather than Mendelian disorder.
Mendeliome v0.6878 CLDN2 Zornitza Stark edited their review of gene: CLDN2: Added comment: Azoospermia: single multigenerational family reported.; Changed publications: 29884332, 31163246, 31320686; Changed phenotypes: Susceptibility to pancreatitis, Azoospermia, obstructive, with nephrolithiasis, MIM# 301060; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6878 FLII Zornitza Stark changed review comment from: Two unrelated families reported with homozygous missense variants. Emerging evidence.
Sources: Literature; to: Two unrelated families reported with homozygous missense variants. Emerging evidence: aware of two more families.
Sources: Literature
Mendeliome v0.6878 FLII Zornitza Stark edited their review of gene: FLII: Changed rating: GREEN
Mendeliome v0.6878 FLII Zornitza Stark Publications for gene: FLII were set to 32870709
Mendeliome v0.6877 FLII Zornitza Stark Classified gene: FLII as Green List (high evidence)
Mendeliome v0.6877 FLII Zornitza Stark Gene: flii has been classified as Green List (High Evidence).
Mendeliome v0.6876 POLR3A Elena Savva commented on gene: POLR3A: c.1909+22G>A is a recurring variant that results in a leaky splice site

Bi-allelic variants associated with Leukodystrophy and with Wiedemann-Rautenstrauch syndrome; note association between mono-allelic variants and susceptibility to severe VZV infection.

Deep intronic variants commonly pathogenic

No clear gen-phen correlation
Mendeliome v0.6876 POLR3A Elena Savva reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31637490; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694, Wiedemann-Rautenstrauch syndrome MIM#264090, POLR3A-related spastic ataxia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Cardiomyopathy_Paediatric v0.58 FLII Elena Savva reviewed gene: FLII: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32870709, 11971982, 32980309; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6876 FLII Elena Savva reviewed gene: FLII: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32870709, 11971982, 32980309; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6876 HSF2BP Zornitza Stark Marked gene: HSF2BP as ready
Mendeliome v0.6876 HSF2BP Zornitza Stark Gene: hsf2bp has been classified as Red List (Low Evidence).
Mendeliome v0.6876 HSF2BP Zornitza Stark gene: HSF2BP was added
gene: HSF2BP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HSF2BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSF2BP were set to 32845237
Phenotypes for gene: HSF2BP were set to Premature ovarian failure, OMIM#619245
Review for gene: HSF2BP was set to RED
Added comment: Single family reported where homozygous missense variant segregated with POF in three sisters.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.191 HSF2BP Zornitza Stark Marked gene: HSF2BP as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.191 HSF2BP Zornitza Stark Gene: hsf2bp has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.191 HSF2BP Zornitza Stark gene: HSF2BP was added
gene: HSF2BP was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
Mode of inheritance for gene: HSF2BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSF2BP were set to 32845237
Phenotypes for gene: HSF2BP were set to Premature ovarian failure, OMIM#619245
Review for gene: HSF2BP was set to RED
Added comment: Single family reported where homozygous missense variant segregated with POF in three sisters.
Sources: Expert list
Mendeliome v0.6875 COL4A6 Zornitza Stark Marked gene: COL4A6 as ready
Mendeliome v0.6875 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Mendeliome v0.6875 COL4A6 Zornitza Stark Phenotypes for gene: COL4A6 were changed from to Deafness, X-linked 6 MIM#300914
Mendeliome v0.6874 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to
Mendeliome v0.6873 COL4A6 Zornitza Stark Mode of inheritance for gene: COL4A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6872 COL4A6 Zornitza Stark Classified gene: COL4A6 as Red List (low evidence)
Mendeliome v0.6872 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Mendeliome v0.6871 RNF6 Zornitza Stark Marked gene: RNF6 as ready
Mendeliome v0.6871 RNF6 Zornitza Stark Gene: rnf6 has been classified as Red List (Low Evidence).
Mendeliome v0.6871 RNF6 Zornitza Stark Classified gene: RNF6 as Red List (low evidence)
Mendeliome v0.6871 RNF6 Zornitza Stark Gene: rnf6 has been classified as Red List (Low Evidence).
Mendeliome v0.6870 RNF6 Zornitza Stark reviewed gene: RNF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6870 COL4A6 Paul De Fazio reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752, 12784310; Phenotypes: ?Deafness, X-linked 6 MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Joubert syndrome and other neurological ciliopathies v0.142 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Joubert syndrome and other neurological ciliopathies v0.142 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.142 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561
Joubert syndrome and other neurological ciliopathies v0.141 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Joubert syndrome and other neurological ciliopathies v0.140 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.139 RPGRIP1L Zornitza Stark reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 17558409, 17558407, 17960139, 26071364; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.139 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Joubert syndrome and other neurological ciliopathies v0.139 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.139 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM# 300804
Joubert syndrome and other neurological ciliopathies v0.138 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Joubert syndrome and other neurological ciliopathies v0.137 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Joubert syndrome and other neurological ciliopathies v0.136 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19800048, 22353940, 32944789, 30895720; Phenotypes: Joubert syndrome 10, MIM# 300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6870 MED12 Zornitza Stark Marked gene: MED12 as ready
Mendeliome v0.6870 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Mendeliome v0.6870 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450
Mendeliome v0.6869 MED12 Zornitza Stark Publications for gene: MED12 were set to
Mendeliome v0.6868 MED12 Zornitza Stark Mode of inheritance for gene: MED12 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 v0.6867 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Mendeliome v0.6867 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Green List (High Evidence).
Mendeliome v0.6867 BMPR2 Zornitza Stark Phenotypes for gene: BMPR2 were changed from to Pulmonary venoocclusive disease 1 MIM#265450; Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600
Mendeliome v0.6866 BMPR2 Zornitza Stark Publications for gene: BMPR2 were set to
Mendeliome v0.6865 BMPR2 Zornitza Stark Mode of pathogenicity for gene: BMPR2 was changed from to Other
Mendeliome v0.6864 BMPR2 Zornitza Stark Mode of inheritance for gene: BMPR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6863 MED12 Elena Savva reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33244166, 32174975, 30006928, 27312080; Phenotypes: Ohdo syndrome, X-linked MIM#300895, Lujan-Fryns syndrome MIM#309520, Opitz-Kaveggia syndrome MIM#305450; 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 v0.6863 BMPR2 Elena Savva reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33380512; Phenotypes: Pulmonary venoocclusive disease 1 MIM#265450, Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6863 ZNF711 Zornitza Stark Marked gene: ZNF711 as ready
Mendeliome v0.6863 ZNF711 Zornitza Stark Gene: znf711 has been classified as Green List (High Evidence).
Mendeliome v0.6863 ZNF711 Zornitza Stark Phenotypes for gene: ZNF711 were changed from to Mental retardation, X-linked 97; OMIM #300803
Mendeliome v0.6862 ZNF711 Zornitza Stark Publications for gene: ZNF711 were set to
Mendeliome v0.6861 ZNF711 Zornitza Stark Mode of inheritance for gene: ZNF711 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6860 ZNF711 Zornitza Stark reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: 27993705, 19377476; Phenotypes: Mental retardation, X-linked 97, OMIM #300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3548 ZNF711 Zornitza Stark Mode of inheritance for gene: ZNF711 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3547 ZNF711 Zornitza Stark Marked gene: ZNF711 as ready
Intellectual disability syndromic and non-syndromic v0.3547 ZNF711 Zornitza Stark Gene: znf711 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3547 ZNF711 Zornitza Stark Phenotypes for gene: ZNF711 were changed from to Mental retardation, X-linked 97; OMIM #300803
Intellectual disability syndromic and non-syndromic v0.3546 ZNF711 Zornitza Stark Publications for gene: ZNF711 were set to
Intellectual disability syndromic and non-syndromic v0.3545 ZNF711 Zornitza Stark Mode of inheritance for gene: ZNF711 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)
Inflammatory bowel disease v0.54 XIAP Zornitza Stark Marked gene: XIAP as ready
Inflammatory bowel disease v0.54 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.54 XIAP Zornitza Stark Phenotypes for gene: XIAP were changed from to X-linked lymphoproliferative syndrome 2; inflammatory bowel disease; colitis
Inflammatory bowel disease v0.53 XIAP Zornitza Stark Publications for gene: XIAP were set to
Inflammatory bowel disease v0.52 XIAP Zornitza Stark Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6860 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Mendeliome v0.6860 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Mendeliome v0.6860 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Mendeliome v0.6859 SLC35A2 Zornitza Stark Publications for gene: SLC35A2 were set to
Mendeliome v0.6858 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)
Mendeliome v0.6857 SLC35A2 Zornitza Stark Tag somatic tag was added to gene: SLC35A2.
Mendeliome v0.6857 SLC35A2 Zornitza Stark reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561849, 24115232, 27743886, 25778940, 33407896; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); 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 v0.3544 ZNF711 Chirag Patel reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 27993705, 19377476; Phenotypes: Mental retardation, X-linked 97, OMIM #300803; 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 v0.6857 MEF2A Zornitza Stark Mode of inheritance for gene: MEF2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6856 MEF2A Zornitza Stark Marked gene: MEF2A as ready
Mendeliome v0.6856 MEF2A Zornitza Stark Gene: mef2a has been classified as Red List (Low Evidence).
Mendeliome v0.6856 MEF2A Zornitza Stark Phenotypes for gene: MEF2A were changed from to {Coronary artery disease, autosomal dominant, 1} 608320
Mendeliome v0.6855 MEF2A Zornitza Stark Classified gene: MEF2A as Red List (low evidence)
Mendeliome v0.6855 MEF2A Zornitza Stark Gene: mef2a has been classified as Red List (Low Evidence).
Mendeliome v0.6854 MEF2A Zornitza Stark reviewed gene: MEF2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Coronary artery disease, autosomal dominant, 1} 608320; Mode of inheritance: None
Defects of intrinsic and innate immunity v0.66 TNFSF11 Bryony Thompson Phenotypes for gene: TNFSF11 were changed from Osteoperosis, autosomal recessive 2 MIM#259710 to Osteopetrosis, autosomal recessive 2 MIM#259710
Defects of intrinsic and innate immunity v0.65 TNFSF11 Bryony Thompson changed review comment from: >3 cases reported with osteoclast poor osteoporosis, and a supporting null mouse model.
Sources: Expert list; to: >3 cases reported with osteoclast poor osteopetrosis, and a supporting null mouse model.
Sources: Expert list
Defects of intrinsic and innate immunity v0.65 TNFSF11 Bryony Thompson edited their review of gene: TNFSF11: Changed phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710
Inflammatory bowel disease v0.51 XIAP Lavvina Thiyagarajan reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25666262, 17080092, 21173700, 25943627, 22228567, 26182687, 31232887; Phenotypes: X-linked lymphoproliferative syndrome 2, inflammatory bowel disease, colitis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6854 FN1 Zornitza Stark Marked gene: FN1 as ready
Mendeliome v0.6854 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Mendeliome v0.6854 FN1 Zornitza Stark Phenotypes for gene: FN1 were changed from to Glomerulopathy with fibronectin deposits 2 (MIM#601894); Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)
Mendeliome v0.6853 FN1 Zornitza Stark Publications for gene: FN1 were set to
Mendeliome v0.6852 FN1 Zornitza Stark Mode of inheritance for gene: FN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Joubert syndrome and other neurological ciliopathies v0.136 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Joubert syndrome and other neurological ciliopathies v0.136 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.136 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361
Joubert syndrome and other neurological ciliopathies v0.135 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Joubert syndrome and other neurological ciliopathies v0.134 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.133 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 16415887, 17377820, 17160906, 19508969; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.41 SLC35A2 Zornitza Stark edited their review of gene: SLC35A2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.41 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.41 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.41 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm (OMIM 300896); mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.40 SLC35A2 Zornitza Stark Classified gene: SLC35A2 as Green List (high evidence)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.40 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 SLC35A2 Zornitza Stark Tag somatic tag was added to gene: SLC35A2.
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 SLC35A2 Zornitza Stark reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 SLC35A2 Shannon LeBlanc gene: SLC35A2 was added
gene: SLC35A2 was added to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly. Sources: Literature
Mode of inheritance for gene: SLC35A2 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: SLC35A2 were set to PMID: 33407896
Phenotypes for gene: SLC35A2 were set to Congenital disorder of glycosylation, type IIm (OMIM 300896); mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Review for gene: SLC35A2 was set to GREEN
Added comment: somatic variants reported in MOGHE (PMID 33407896).
Sources: Literature
Mendeliome v0.6851 IL37 Zornitza Stark Marked gene: IL37 as ready
Mendeliome v0.6851 IL37 Zornitza Stark Gene: il37 has been classified as Red List (Low Evidence).
Mendeliome v0.6851 IL37 Zornitza Stark gene: IL37 was added
gene: IL37 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IL37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL37 were set to 33674380
Phenotypes for gene: IL37 were set to Infantile inflammatory bowel disease
Review for gene: IL37 was set to RED
Added comment: Single family reported with homozygous truncating variant this gene and infantile-onset of IBD, some functional data.
Sources: Literature
Inflammatory bowel disease v0.51 IL37 Zornitza Stark Marked gene: IL37 as ready
Inflammatory bowel disease v0.51 IL37 Zornitza Stark Gene: il37 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.51 IL37 Zornitza Stark gene: IL37 was added
gene: IL37 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: IL37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL37 were set to 33674380
Phenotypes for gene: IL37 were set to Infantile inflammatory bowel disease
Review for gene: IL37 was set to RED
Added comment: Single family reported with homozygous truncating variant this gene and infantile-onset of IBD, some functional data.
Sources: Literature
Mendeliome v0.6850 PEX10 Teresa Zhao reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30640048; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870), Peroxisome biogenesis disorder 6B (MIM#614871); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6850 FN1 Ain Roesley reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100092; Phenotypes: Glomerulopathy with fibronectin deposits 2 (MIM#601894), Spondylometaphyseal dysplasia, corner fracture type (MIM#184255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6850 CHRDL1 Zornitza Stark Marked gene: CHRDL1 as ready
Mendeliome v0.6850 CHRDL1 Zornitza Stark Gene: chrdl1 has been classified as Green List (High Evidence).
Mendeliome v0.6850 CHRDL1 Zornitza Stark Phenotypes for gene: CHRDL1 were changed from to Megalocornea OMIM# 309300
Mendeliome v0.6849 CHRDL1 Zornitza Stark Publications for gene: CHRDL1 were set to
Mendeliome v0.6848 CHRDL1 Zornitza Stark Mode of inheritance for gene: CHRDL1 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 v0.6847 CHRDL1 Zornitza Stark reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25093588; Phenotypes: Megalocornea OMIM# 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phagocyte Defects v0.51 SEC61A1 Bryony Thompson Classified gene: SEC61A1 as Amber List (moderate evidence)
Phagocyte Defects v0.51 SEC61A1 Bryony Thompson Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.50 MSN Bryony Thompson Classified gene: MSN as Green List (high evidence)
Phagocyte Defects v0.50 MSN Bryony Thompson Gene: msn has been classified as Green List (High Evidence).
Phagocyte Defects v0.48 MSN Bryony Thompson gene: MSN was added
gene: MSN was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MSN were set to 27405666
Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988
Phagocyte Defects v0.47 SEC61A1 Bryony Thompson gene: SEC61A1 was added
gene: SEC61A1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61A1 were set to 27392076; 32325141; 28782633
Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia
Mendeliome v0.6847 HDL2 Bryony Thompson Marked STR: HDL2 as ready
Mendeliome v0.6847 HDL2 Bryony Thompson Str: hdl2 has been classified as Green List (High Evidence).
Mendeliome v0.6847 HDL2 Bryony Thompson Classified STR: HDL2 as Green List (high evidence)
Mendeliome v0.6847 HDL2 Bryony Thompson Str: hdl2 has been classified as Green List (High Evidence).
Mendeliome v0.6846 HDL2 Bryony Thompson STR: HDL2 was added
STR: HDL2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HDL2 were set to 20301701
Phenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438
Review for STR: HDL2 was set to GREEN
STR: HDL2 was marked as clinically relevant
Added comment: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]
In an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein
Normal: ≤28 repeats
Questionable significance: 29-39 repeats, mutable normal or reduced penetrance included
Full penetrance: ≥40 repeats
Sources: Expert list
Mendeliome v0.6845 JPH3 Bryony Thompson Classified gene: JPH3 as No list
Mendeliome v0.6845 JPH3 Bryony Thompson Added comment: Comment on list classification: See STRs for this panel
Mendeliome v0.6845 JPH3 Bryony Thompson Gene: jph3 has been removed from the panel.
Mendeliome v0.6844 DM2 Bryony Thompson Marked STR: DM2 as ready
Mendeliome v0.6844 DM2 Bryony Thompson Str: dm2 has been classified as Green List (High Evidence).
Mendeliome v0.6844 DM2 Bryony Thompson Classified STR: DM2 as Green List (high evidence)
Mendeliome v0.6844 DM2 Bryony Thompson Str: dm2 has been classified as Green List (High Evidence).
Mendeliome v0.6843 DM2 Bryony Thompson STR: DM2 was added
STR: DM2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: DM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM2 were set to 20301639; 29325606
Phenotypes for STR: DM2 were set to Myotonic dystrophy 2 MIM#602668
Review for STR: DM2 was set to GREEN
STR: DM2 was marked as clinically relevant
Added comment: HGVS nomenclature: NM_003418.4:c.-14-833_-14-830[X]
Toxic gain of function RNA expected mechanism of disease
Normal: ≤30 uninterrupted CCTG repeats, 11-26 CCTG repeats with any GCTC or TCTG interruptions
Unknown significance (normal vs. mutable): 27-29 CCTG repeats
Mutable normal (premutation) alleles. ~30-~54 CCTG repeats
Unknown significance (premutation vs pathogenic): ~55-74 CCTG repeats
Pathogenic: ~75-11,000 CCTG repeats
Sources: Expert list
Mendeliome v0.6842 CNBP Bryony Thompson Marked gene: CNBP as ready
Mendeliome v0.6842 CNBP Bryony Thompson Gene: cnbp has been removed from the panel.
Corneal Dystrophy v1.2 CHRDL1 Alison Yeung Marked gene: CHRDL1 as ready
Corneal Dystrophy v1.2 CHRDL1 Alison Yeung Gene: chrdl1 has been classified as Green List (High Evidence).
Corneal Dystrophy v1.2 CHRDL1 Alison Yeung Classified gene: CHRDL1 as Green List (high evidence)
Corneal Dystrophy v1.2 CHRDL1 Alison Yeung Gene: chrdl1 has been classified as Green List (High Evidence).
Corneal Dystrophy v1.2 CHRDL1 Alison Yeung Classified gene: CHRDL1 as Green List (high evidence)
Corneal Dystrophy v1.2 CHRDL1 Alison Yeung Gene: chrdl1 has been classified as Green List (High Evidence).
Corneal Dystrophy v1.1 CHRDL1 Alison Yeung Marked gene: CHRDL1 as ready
Corneal Dystrophy v1.1 CHRDL1 Alison Yeung Added comment: Comment when marking as ready: Multiple large families reported with X-linked inheritance.
Corneal Dystrophy v1.1 CHRDL1 Alison Yeung Gene: chrdl1 has been classified as Red List (Low Evidence).
Mendeliome v0.6842 CNBP Bryony Thompson Classified gene: CNBP as No list
Mendeliome v0.6842 CNBP Bryony Thompson Added comment: Comment on list classification: Condition is caused by a CCTG expansion in intron 1. No reported SNVs or indels reported in association with disease. Present under STRs on this panel
Mendeliome v0.6842 CNBP Bryony Thompson Gene: cnbp has been removed from the panel.
Corneal Dystrophy v1.1 CHRDL1 Alison Yeung gene: CHRDL1 was added
gene: CHRDL1 was added to Corneal Dystrophy. Sources: Literature
Mode of inheritance for gene: CHRDL1 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: CHRDL1 were set to 25093588
Phenotypes for gene: CHRDL1 were set to Megalocornea OMIM# 309300
Review for gene: CHRDL1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3544 DM1 Bryony Thompson Marked STR: DM1 as ready
Intellectual disability syndromic and non-syndromic v0.3544 DM1 Bryony Thompson Str: dm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3544 DM1 Bryony Thompson Classified STR: DM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3544 DM1 Bryony Thompson Str: dm1 has been classified as Green List (High Evidence).
Mendeliome v0.6841 DM1 Bryony Thompson Marked STR: DM1 as ready
Mendeliome v0.6841 DM1 Bryony Thompson Str: dm1 has been classified as Green List (High Evidence).
Mendeliome v0.6841 DM1 Bryony Thompson Classified STR: DM1 as Green List (high evidence)
Mendeliome v0.6841 DM1 Bryony Thompson Str: dm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3543 DM1 Bryony Thompson STR: DM1 was added
STR: DM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM1 were set to 20301344; 29325606
Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900
Review for STR: DM1 was set to GREEN
STR: DM1 was marked as clinically relevant
Added comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]
RNA toxic gain of function is mechanism of disease
Premutation: 35-49 repeats, no clinical signs
Mild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia
Classic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia
Congenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults
Sources: Expert list
Mendeliome v0.6840 DM1 Bryony Thompson STR: DM1 was added
STR: DM1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM1 were set to 20301344; 29325606
Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900
Review for STR: DM1 was set to GREEN
STR: DM1 was marked as clinically relevant
Added comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]
RNA toxic gain of function is mechanism of disease
Premutation: 35-49 repeats, no clinical signs
Mild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia
Classic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia
Congenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3542 DMPK Bryony Thompson Classified gene: DMPK as No list
Intellectual disability syndromic and non-syndromic v0.3542 DMPK Bryony Thompson Added comment: Comment on list classification: STR is the only cause of condition for this gene and is present in STRs for this panel.
Intellectual disability syndromic and non-syndromic v0.3542 DMPK Bryony Thompson Gene: dmpk has been removed from the panel.
Mendeliome v0.6839 DMPK Bryony Thompson Classified gene: DMPK as No list
Mendeliome v0.6839 DMPK Bryony Thompson Added comment: Comment on list classification: STR is the only cause of condition for this gene and is present in STRs for this panel.
Mendeliome v0.6839 DMPK Bryony Thompson Gene: dmpk has been removed from the panel.
Mendeliome v0.6838 SCA17 Bryony Thompson Marked STR: SCA17 as ready
Mendeliome v0.6838 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Mendeliome v0.6838 SCA17 Bryony Thompson Classified STR: SCA17 as Green List (high evidence)
Mendeliome v0.6838 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Mendeliome v0.6837 SCA17 Bryony Thompson STR: SCA17 was added
STR: SCA17 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA17 were set to 20301611; 29325606
Phenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136
Review for STR: SCA17 was set to GREEN
STR: SCA17 was marked as clinically relevant
Added comment: NM_003194.4:c.172_174[X]
Mechanism of disease expected to be gain of function
Normal: ≤ 40 CAG/CAA repeats
Reduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.
Full-penetrance: ≥49 CAG/CAA repeats
Sources: Expert list
Mendeliome v0.6836 TBP Bryony Thompson Marked gene: TBP as ready
Mendeliome v0.6836 TBP Bryony Thompson Gene: tbp has been removed from the panel.
Mendeliome v0.6836 TBP Bryony Thompson Classified gene: TBP as No list
Mendeliome v0.6836 TBP Bryony Thompson Added comment: Comment on list classification: See STRs
Mendeliome v0.6836 TBP Bryony Thompson Gene: tbp has been removed from the panel.
Mendeliome v0.6835 SCA12 Bryony Thompson Marked STR: SCA12 as ready
Mendeliome v0.6835 SCA12 Bryony Thompson Str: sca12 has been classified as Green List (High Evidence).
Mendeliome v0.6835 SCA12 Bryony Thompson Classified STR: SCA12 as Green List (high evidence)
Mendeliome v0.6835 SCA12 Bryony Thompson Str: sca12 has been classified as Green List (High Evidence).
Mendeliome v0.6834 SCA12 Bryony Thompson STR: SCA12 was added
STR: SCA12 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA12 were set to 29325606; 20301381
Phenotypes for STR: SCA12 were set to Spinocerebellar ataxia 12 MIM#604326
Review for STR: SCA12 was set to GREEN
STR: SCA12 was marked as clinically relevant
Added comment: NM_181675.3:c.27CAG[X]
Uncertain if CAG repeat encodes polyglutamine or instead effects expression of specific splice variants of the encoded phosphatase
Normal: ≤32 repeats
Reduced penetrance: ~40-66 repeats
Full penetrance: ≥66 repeats
Sources: Expert list
Mendeliome v0.6833 PPP2R2B Bryony Thompson Marked gene: PPP2R2B as ready
Mendeliome v0.6833 PPP2R2B Bryony Thompson Gene: ppp2r2b has been removed from the panel.
Mendeliome v0.6833 PPP2R2B Bryony Thompson Classified gene: PPP2R2B as No list
Mendeliome v0.6833 PPP2R2B Bryony Thompson Gene: ppp2r2b has been removed from the panel.
Mendeliome v0.6832 SCA36 Bryony Thompson Marked STR: SCA36 as ready
Mendeliome v0.6832 SCA36 Bryony Thompson Str: sca36 has been classified as Green List (High Evidence).
Mendeliome v0.6832 SCA36 Bryony Thompson Classified STR: SCA36 as Green List (high evidence)
Mendeliome v0.6832 SCA36 Bryony Thompson Str: sca36 has been classified as Green List (High Evidence).
Mendeliome v0.6831 SCA36 Bryony Thompson STR: SCA36 was added
STR: SCA36 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA36 were set to 25101480
Phenotypes for STR: SCA36 were set to Spinocerebellar ataxia 36 MIM#614153
Review for STR: SCA36 was set to GREEN
STR: SCA36 was marked as clinically relevant
Added comment: NM_006392​.3:c.3+71GGCCTG[X]
Toxic RNA effect is suggested mechanism of disease
Normal: 3-14 repeats
Uncertain significance: 15-650 repeats
Pathogenic: ≥650 repeats
Sources: Expert list
Mendeliome v0.6830 NOP56 Bryony Thompson Classified gene: NOP56 as No list
Mendeliome v0.6830 NOP56 Bryony Thompson Added comment: Comment on list classification: A hexanucleotide (GGCCTG) repeat expansion in the first intron of the NOP56 gene is the only reported cause of disease. See STRS
Mendeliome v0.6830 NOP56 Bryony Thompson Gene: nop56 has been removed from the panel.
Mendeliome v0.6829 SCA37 Bryony Thompson Marked STR: SCA37 as ready
Mendeliome v0.6829 SCA37 Bryony Thompson Str: sca37 has been classified as Green List (High Evidence).
Mendeliome v0.6829 SCA37 Bryony Thompson Classified STR: SCA37 as Green List (high evidence)
Mendeliome v0.6829 SCA37 Bryony Thompson Str: sca37 has been classified as Green List (High Evidence).
Mendeliome v0.6828 SCA37 Bryony Thompson STR: SCA37 was added
STR: SCA37 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA37 were set to 28686858; 31145571
Phenotypes for STR: SCA37 were set to Spinocerebellar ataxia 37 MIM#615945
Review for STR: SCA37 was set to GREEN
STR: SCA37 was marked as clinically relevant
Added comment: NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
Located in a 5'UTR intron, flanked by (ATTTT)n on both sides
Non-pathogenic allele: (ATTTT)7–400
Pathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90]
Sources: Expert list
Mendeliome v0.6827 DAB1 Bryony Thompson Marked gene: DAB1 as ready
Mendeliome v0.6827 DAB1 Bryony Thompson Gene: dab1 has been removed from the panel.
Mendeliome v0.6827 DAB1 Bryony Thompson Classified gene: DAB1 as No list
Mendeliome v0.6827 DAB1 Bryony Thompson Gene: dab1 has been removed from the panel.
Mendeliome v0.6826 SCA31 Bryony Thompson Marked STR: SCA31 as ready
Mendeliome v0.6826 SCA31 Bryony Thompson Str: sca31 has been classified as Green List (High Evidence).
Mendeliome v0.6826 SCA31 Bryony Thompson Classified STR: SCA31 as Green List (high evidence)
Mendeliome v0.6826 SCA31 Bryony Thompson Str: sca31 has been classified as Green List (High Evidence).
Mendeliome v0.6825 SCA31 Bryony Thompson STR: SCA31 was added
STR: SCA31 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA31 were set to 19878914; 31755042
Phenotypes for STR: SCA31 were set to Spinocerebellar ataxia 31 MIM#117210
Review for STR: SCA31 was set to GREEN
STR: SCA31 was marked as clinically relevant
Added comment: Complex repeat insertion (TGGAA)n, (TAGAA)n, (TAAAA)n, (TAAAATAGAA)n, TGGAA is present only in affected cases. Sequencing showed that the insertion consisted of a preceding TCAC sequence, and 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested.
2.5-3.8 KB insertion is associated with disease and RNA toxicity expected to be mechanism of disease
Normal and pathogenic cut-offs are based on animal model experiments (PMID: 31755042)
Sources: Expert list
Mendeliome v0.6824 BEAN1 Bryony Thompson Marked gene: BEAN1 as ready
Mendeliome v0.6824 BEAN1 Bryony Thompson Gene: bean1 has been removed from the panel.
Mendeliome v0.6824 BEAN1 Bryony Thompson Classified gene: BEAN1 as No list
Mendeliome v0.6824 BEAN1 Bryony Thompson Gene: bean1 has been removed from the panel.
Mendeliome v0.6823 SCA7 Bryony Thompson Marked STR: SCA7 as ready
Mendeliome v0.6823 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Mendeliome v0.6823 SCA7 Bryony Thompson Classified STR: SCA7 as Green List (high evidence)
Mendeliome v0.6823 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Mendeliome v0.6822 SCA7 Bryony Thompson STR: SCA7 was added
STR: SCA7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA7 were set to 29325606; 20301433
Phenotypes for STR: SCA7 were set to Spinocerebellar ataxia 7 MIM#164500
Review for STR: SCA7 was set to GREEN
STR: SCA7 was marked as clinically relevant
Added comment: NM_000333​.3:c.89_91AGC[X]
Gain of function mechanism of disease
Normal: ≤27 repeats
Mutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.
Pathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average
Pathogenic full penetrance: 37-460 repeats
Sources: Expert list
Mendeliome v0.6821 ATXN7 Bryony Thompson Marked gene: ATXN7 as ready
Mendeliome v0.6821 ATXN7 Bryony Thompson Gene: atxn7 has been removed from the panel.
Mendeliome v0.6821 ATXN7 Bryony Thompson Classified gene: ATXN7 as No list
Mendeliome v0.6821 ATXN7 Bryony Thompson Gene: atxn7 has been removed from the panel.
Mendeliome v0.6820 SCA3 Bryony Thompson Marked STR: SCA3 as ready
Mendeliome v0.6820 SCA3 Bryony Thompson Str: sca3 has been classified as Green List (High Evidence).
Mendeliome v0.6820 SCA3 Bryony Thompson Classified STR: SCA3 as Green List (high evidence)
Mendeliome v0.6820 SCA3 Bryony Thompson Str: sca3 has been classified as Green List (High Evidence).
Mendeliome v0.6819 SCA3 Bryony Thompson STR: SCA3 was added
STR: SCA3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA3 were set to 20301375; 29325606
Phenotypes for STR: SCA3 were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3
Review for STR: SCA3 was set to GREEN
STR: SCA3 was marked as clinically relevant
Added comment: NM_004993​.5:c.886_888CAG[X]
Toxic aggregation and mislocalization in neurons is mechanism of disease
Normal: ≤44 repeats, mostly <31 repeats
Intermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3
Pathogenic (full penetrance): ≥60 repeats
Sources: Expert list
Mendeliome v0.6818 ATXN3 Bryony Thompson Classified gene: ATXN3 as No list
Mendeliome v0.6818 ATXN3 Bryony Thompson Gene: atxn3 has been removed from the panel.
Mendeliome v0.6817 SCA2 Bryony Thompson Marked STR: SCA2 as ready
Mendeliome v0.6817 SCA2 Bryony Thompson Str: sca2 has been classified as Green List (High Evidence).
Mendeliome v0.6817 SCA2 Bryony Thompson Classified STR: SCA2 as Green List (high evidence)
Mendeliome v0.6817 SCA2 Bryony Thompson Str: sca2 has been classified as Green List (High Evidence).
Mendeliome v0.6816 SCA2 Bryony Thompson STR: SCA2 was added
STR: SCA2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA2 were set to 29325606; 20301452
Phenotypes for STR: SCA2 were set to Spinocerebellar ataxia 2 MIM#183090
Review for STR: SCA2 was set to GREEN
STR: SCA2 was marked as clinically relevant
Added comment: NM_002973​.3:c.496_498CAG[X]
Toxic protein aggregation is mechanism of disease
Benign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2)
Uncertain: 32 repeats
ALS risk allele: 30-32 repeats
Reduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life
Full penetrance: ≥35 repeats
Interruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat
Sources: Expert list
Mendeliome v0.6815 ATXN2 Bryony Thompson Classified gene: ATXN2 as No list
Mendeliome v0.6815 ATXN2 Bryony Thompson Gene: atxn2 has been removed from the panel.
Mendeliome v0.6814 SCA10 Bryony Thompson Marked STR: SCA10 as ready
Mendeliome v0.6814 SCA10 Bryony Thompson Str: sca10 has been classified as Green List (High Evidence).
Mendeliome v0.6814 SCA10 Bryony Thompson Classified STR: SCA10 as Green List (high evidence)
Mendeliome v0.6814 SCA10 Bryony Thompson Str: sca10 has been classified as Green List (High Evidence).
Mendeliome v0.6813 SCA10 Bryony Thompson STR: SCA10 was added
STR: SCA10 was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: SCA10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA10 were set to 20301354
Phenotypes for STR: SCA10 were set to Spinocerebellar ataxia 10 MIM#603516
Review for STR: SCA10 was set to GREEN
STR: SCA10 was marked as clinically relevant
Added comment: NM_013236​.2:c.1430+54822ATTCT[X]
Toxic RNA gain-of-function mechanism of disease
Normal alleles: 10-32 ATTCT repeats
Alleles of questionable significance: 33-280 ATTCT repeats
Reduced-penetrance alleles: 33-850 repeats
Full-penetrance alleles: 800-4,500 ATTCT repeats
Sources: Expert list
Mendeliome v0.6812 ATXN10 Bryony Thompson Classified gene: ATXN10 as No list
Mendeliome v0.6812 ATXN10 Bryony Thompson Gene: atxn10 has been removed from the panel.
Joubert syndrome and other neurological ciliopathies v0.133 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Joubert syndrome and other neurological ciliopathies v0.133 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Amber List (Moderate Evidence).