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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_Autosomal Recessive/X-linked v0.88 AMACR Zornitza Stark Marked gene: AMACR as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked 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.
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Tag deep intronic tag was added to gene: PRIM1.
Tag founder tag was added to gene: PRIM1.
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 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
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).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Marked gene: PRIM1 as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Classified gene: PRIM1 as Amber List (moderate evidence)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.12 PRIM1 Zornitza Stark gene: PRIM1 was added
gene: PRIM1 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. 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 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
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.11 TRAIP Zornitza Stark Marked gene: TRAIP as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.11 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.11 TRAIP Zornitza Stark Phenotypes for gene: TRAIP were changed from to Seckel syndrome 9, MIM# 616777
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.10 TRAIP Zornitza Stark Publications for gene: TRAIP were set to
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.9 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
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
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.9 PCNT Zornitza Stark Marked gene: PCNT as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.9 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.9 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.8 PCNT Zornitza Stark Publications for gene: PCNT were set to
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 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
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 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
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 LARP7 Zornitza Stark Marked gene: LARP7 as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 LARP7 Zornitza Stark Classified gene: LARP7 as Green List (high evidence)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.6 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARP7 were set to 22865833; 21937992; 30006060; 33569879
Phenotypes for gene: LARP7 were set to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031
Review for gene: LARP7 was set to GREEN
Added comment: Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Five unrelated families reported.
Sources: Expert Review
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_syndromic v0.7 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Lymphoedema_syndromic v0.7 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Lymphoedema_syndromic 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_syndromic v0.6 KIF11 Zornitza Stark Publications for gene: KIF11 were set to 22284827
Lymphoedema_syndromic 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
Lymphoedema_nonsyndromic v0.17 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Lymphoedema_nonsyndromic v0.17 KIF11 Zornitza Stark Gene: kif11 has been classified as Amber List (Moderate Evidence).
Lymphoedema_nonsyndromic v0.17 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Lymphoedema_nonsyndromic v0.16 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Lymphoedema_nonsyndromic v0.15 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema_nonsyndromic v0.14 KIF11 Zornitza Stark Classified gene: KIF11 as Amber List (moderate evidence)
Lymphoedema_nonsyndromic v0.14 KIF11 Zornitza Stark Gene: kif11 has been classified as Amber List (Moderate Evidence).
Lymphoedema_nonsyndromic v0.13 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: AMBER; 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).
Chondrodysplasia Punctata v1.0 Zornitza Stark promoted panel to version 1.0
Chondrodysplasia Punctata v0.22 C16orf62 Zornitza Stark Marked gene: C16orf62 as ready
Chondrodysplasia Punctata v0.22 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Chondrodysplasia Punctata v0.22 C16orf62 Zornitza Stark Classified gene: C16orf62 as Amber List (moderate evidence)
Chondrodysplasia Punctata v0.22 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Chondrodysplasia Punctata v0.21 C16orf62 Zornitza Stark gene: C16orf62 was added
gene: C16orf62 was added to Chondrodysplasia Punctata. Sources: Expert list
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475; 31712251
Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Review for gene: C16orf62 was set to AMBER
Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).

Chondrodysplasia punctata was a feature.
Sources: Expert list
Chondrodysplasia Punctata v0.20 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Chondrodysplasia Punctata v0.20 PEX5 Zornitza Stark Gene: pex5 has been classified as Amber List (Moderate Evidence).
Chondrodysplasia Punctata v0.20 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716 to Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; MONDO:0014743
Chondrodysplasia Punctata v0.19 PEX5 Zornitza Stark Classified gene: PEX5 as Amber List (moderate evidence)
Chondrodysplasia Punctata v0.19 PEX5 Zornitza Stark Gene: pex5 has been classified as Amber List (Moderate Evidence).
Chondrodysplasia Punctata v0.18 PEX5 Zornitza Stark edited their review of gene: PEX5: Changed phenotypes: Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716, MONDO:0014743
Chondrodysplasia Punctata v0.18 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Chondrodysplasia Punctata. Sources: Expert Review
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 26220973
Phenotypes for gene: PEX5 were set to Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716
Review for gene: PEX5 was set to AMBER
Added comment: Two consanguineous families reported, however same variant, indicative of founder effect. Functional data.
Sources: Expert Review
Chondrodysplasia Punctata v0.17 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Chondrodysplasia Punctata v0.17 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Chondrodysplasia Punctata v0.17 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100; MONDO:0008972
Chondrodysplasia Punctata v0.16 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Chondrodysplasia Punctata v0.15 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chondrodysplasia Punctata v0.14 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12325024; Phenotypes: Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100, MONDO:0008972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Chondrodysplasia Punctata v0.14 GNPAT Zornitza Stark Marked gene: GNPAT as ready
Chondrodysplasia Punctata v0.14 GNPAT Zornitza Stark Gene: gnpat has been classified as Green List (High Evidence).
Chondrodysplasia Punctata v0.14 GNPAT Zornitza Stark Phenotypes for gene: GNPAT were changed from Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765 to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112
Chondrodysplasia Punctata v0.13 GNPAT Zornitza Stark Phenotypes for gene: GNPAT were changed from to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765
Chondrodysplasia Punctata v0.12 GNPAT Zornitza Stark Publications for gene: GNPAT were set to
Chondrodysplasia Punctata v0.11 GNPAT Zornitza Stark Mode of inheritance for gene: GNPAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chondrodysplasia Punctata v0.10 GNPAT Zornitza Stark reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chondrodysplasia Punctata v0.10 EBP Zornitza Stark Marked gene: EBP as ready
Chondrodysplasia Punctata v0.10 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Chondrodysplasia Punctata v0.10 EBP Zornitza Stark Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Chondrodysplasia Punctata v0.9 EBP Zornitza Stark Publications for gene: EBP were set to
Chondrodysplasia Punctata v0.8 EBP Zornitza Stark Mode of inheritance for gene: EBP was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Chondrodysplasia Punctata v0.7 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391218, 10391219; Phenotypes: Chondrodysplasia punctata, X-linked dominant, MIM# 302960; 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 v0.3550 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
Dystonia - isolated/combined v0.28 ANO3 Zornitza Stark Marked gene: ANO3 as ready
Dystonia - isolated/combined v0.28 ANO3 Zornitza Stark Gene: ano3 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.28 ANO3 Zornitza Stark Publications for gene: ANO3 were set to
Dystonia - isolated/combined v0.27 ANO3 Zornitza Stark Mode of inheritance for gene: ANO3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to 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
Dystonia - isolated/combined v0.26 ANO3 Michelle Torres reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33388357; Phenotypes: Dystonia 24 (MIM#615034); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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).
Joubert syndrome and other neurological ciliopathies v0.133 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010
Joubert syndrome and other neurological ciliopathies v0.132 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Joubert syndrome and other neurological ciliopathies v0.131 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.130 NPHP3 Zornitza Stark Classified gene: NPHP3 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.130 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.129 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18371931; Phenotypes: Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.129 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Joubert syndrome and other neurological ciliopathies v0.129 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.129 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583
Joubert syndrome and other neurological ciliopathies v0.128 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Joubert syndrome and other neurological ciliopathies v0.127 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.126 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138899, 32139166, 28347285; Phenotypes: Joubert syndrome 4, MIM# 609583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3541 INPP4A Zornitza Stark Marked gene: INPP4A as ready
Intellectual disability syndromic and non-syndromic v0.3541 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3541 INPP4A Zornitza Stark Classified gene: INPP4A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3541 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3540 INPP4A Zornitza Stark gene: INPP4A was added
gene: INPP4A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to 31978615; 31938306; 25338135; 20011524
Phenotypes for gene: INPP4A were set to Intellectual disability
Review for gene: INPP4A was set to AMBER
Added comment: Two families reported with bi-allelic variants and a neurological phenotype. Supportive mouse model and expression data.
Sources: Literature
Mendeliome v0.6811 INPP4A Zornitza Stark Marked gene: INPP4A as ready
Mendeliome v0.6811 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6811 INPP4A Zornitza Stark Classified gene: INPP4A as Amber List (moderate evidence)
Mendeliome v0.6811 INPP4A Zornitza Stark Gene: inpp4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6810 INPP4A Zornitza Stark gene: INPP4A was added
gene: INPP4A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to 31978615; 31938306; 25338135; 20011524
Phenotypes for gene: INPP4A were set to Intellectual disability
Review for gene: INPP4A was set to AMBER
Added comment: Two families reported with bi-allelic variants and a neurological phenotype. Supportive mouse model and expression data.
Sources: Literature
Ataxia - paediatric v0.274 Zornitza Stark removed gene:SATB1 from the panel
Intellectual disability syndromic and non-syndromic v0.3539 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly to Kohlschutter-Tonz syndrome-like, MIM# 619229; Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Intellectual disability syndromic and non-syndromic v0.3538 SATB1 Zornitza Stark edited their review of gene: SATB1: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.3538 SATB1 Zornitza Stark edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.

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

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

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

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

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

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

1010 is located in exon 14, which is subjected to exon skipping in certain isoforms. Unclear if causative for this phenotype based on very low VAF and transcript/isoform issues, as well as population frequency.
Sources: Literature
Autism v0.137 KDM5B Zornitza Stark Marked gene: KDM5B as ready
Autism v0.137 KDM5B Zornitza Stark Gene: kdm5b has been classified as Green List (High Evidence).
Autism v0.137 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from to Intellectual disability and/or autism, autosomal dominant
Autism v0.136 KDM5B Zornitza Stark Publications for gene: KDM5B were set to
Autism v0.135 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.134 KDM5B Zornitza Stark reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276005, 30217758, 30409806; Phenotypes: Intellectual disability and/or autism, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6753 KDM5B Zornitza Stark reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, Intellectual disability and/or autism, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3530 KDM5B Zornitza Stark edited their review of gene: KDM5B: Changed phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, Intellectual disability and/or autism, autosomal dominant
Intellectual disability syndromic and non-syndromic v0.3530 KDM5B Zornitza Stark Marked gene: KDM5B as ready
Intellectual disability syndromic and non-syndromic v0.3530 KDM5B Zornitza Stark Gene: kdm5b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3530 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from to Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant
Intellectual disability syndromic and non-syndromic v0.3529 KDM5B Zornitza Stark Publications for gene: KDM5B were set to
Intellectual disability syndromic and non-syndromic v0.3528 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3527 KDM5B Zornitza Stark reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276005, 30217758, 30409806; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, autosomal dominant autism spectrum disorder or intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6753 KDM5B Zornitza Stark Marked gene: KDM5B as ready
Mendeliome v0.6753 KDM5B Zornitza Stark Gene: kdm5b has been classified as Green List (High Evidence).
Mendeliome v0.6753 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from to Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant
Mendeliome v0.6752 KDM5B Zornitza Stark Publications for gene: KDM5B were set to
Mendeliome v0.6751 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3527 TPP2 Zornitza Stark Marked gene: TPP2 as ready
Intellectual disability syndromic and non-syndromic v0.3527 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3527 TPP2 Zornitza Stark Classified gene: TPP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3527 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3526 TPP2 Zornitza Stark gene: TPP2 was added
gene: TPP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP2 were set to 25525876; 25414442; 33586135; 18362329
Phenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Review for gene: TPP2 was set to GREEN
Added comment: Immunodeficiency-78 with autoimmunity and developmental delay (IMD78) is an autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Affected individuals present with features of immune deficiency, such as recurrent sinopulmonary or skin infections, as well as autoimmunity, including autoimmune cytopenias, hemolytic anemia, and thrombocytopenia. Autoimmune hepatitis or thyroid disease and central nervous system vasculitis with stroke may also occur. There is increased susceptibility to bacterial, viral, and fungal infections. Laboratory studies show lymphopenia with advanced differentiation and premature senescence of CD8+ T cells and B cells; some patients may have hypergammaglobulinemia. The findings indicate immune dysregulation. Patients also have global developmental delay with speech delay and variable intellectual disability. Five unrelated families and a mouse model.
Sources: Expert list
Mendeliome v0.6750 TPP2 Zornitza Stark Marked gene: TPP2 as ready
Mendeliome v0.6750 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Mendeliome v0.6750 TPP2 Zornitza Stark Phenotypes for gene: TPP2 were changed from to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Mendeliome v0.6749 TPP2 Zornitza Stark Publications for gene: TPP2 were set to
Mendeliome v0.6748 TPP2 Zornitza Stark Mode of inheritance for gene: TPP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6747 TPP2 Zornitza Stark reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25525876, 25414442, 33586135, 18362329; Phenotypes: Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.76 TPP2 Zornitza Stark Marked gene: TPP2 as ready
Disorders of immune dysregulation v0.76 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.76 TPP2 Zornitza Stark Phenotypes for gene: TPP2 were changed from to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Disorders of immune dysregulation v0.75 TPP2 Zornitza Stark Publications for gene: TPP2 were set to
Disorders of immune dysregulation v0.74 TPP2 Zornitza Stark Mode of inheritance for gene: TPP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.73 TPP2 Zornitza Stark reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25525876, 25414442, 33586135, 18362329; Phenotypes: Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3525 DOCK7 Zornitza Stark Marked gene: DOCK7 as ready
Intellectual disability syndromic and non-syndromic v0.3525 DOCK7 Zornitza Stark Gene: dock7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3525 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from Developmental and epileptic encephalopathy 23 MIM#615859 to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371
Intellectual disability syndromic and non-syndromic v0.3524 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859
Intellectual disability syndromic and non-syndromic v0.3523 DOCK7 Zornitza Stark Publications for gene: DOCK7 were set to
Intellectual disability syndromic and non-syndromic v0.3522 DOCK7 Zornitza Stark Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1042 DOCK7 Zornitza Stark Marked gene: DOCK7 as ready
Genetic Epilepsy v0.1042 DOCK7 Zornitza Stark Gene: dock7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1042 DOCK7 Zornitza Stark Publications for gene: DOCK7 were set to
Genetic Epilepsy v0.1041 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371
Genetic Epilepsy v0.1040 DOCK7 Zornitza Stark Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6747 DOCK7 Zornitza Stark Marked gene: DOCK7 as ready
Mendeliome v0.6747 DOCK7 Zornitza Stark Gene: dock7 has been classified as Green List (High Evidence).
Mendeliome v0.6747 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from Developmental and epileptic encephalopathy 23 MIM#615859 to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371
Mendeliome v0.6746 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859
Mendeliome v0.6745 DOCK7 Zornitza Stark Publications for gene: DOCK7 were set to
Mendeliome v0.6744 DOCK7 Zornitza Stark Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary Spastic Paraplegia - adult onset v0.125 ZFYVE27 Zornitza Stark Marked gene: ZFYVE27 as ready
Hereditary Spastic Paraplegia - adult onset v0.125 ZFYVE27 Zornitza Stark Gene: zfyve27 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - adult onset v0.125 ZFYVE27 Zornitza Stark Phenotypes for gene: ZFYVE27 were changed from Spastic paraplegia 33, autosomal dominant to Spastic paraplegia 33, autosomal dominant, MIM#610244
Hereditary Spastic Paraplegia - adult onset v0.124 ZFYVE27 Zornitza Stark Mode of inheritance for gene: ZFYVE27 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.123 VAMP1 Zornitza Stark Mode of inheritance for gene: VAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.122 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Hereditary Spastic Paraplegia - adult onset v0.122 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - adult onset v0.122 SLC33A1 Zornitza Stark Mode of inheritance for gene: SLC33A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.121 SLC33A1 Zornitza Stark Classified gene: SLC33A1 as Red List (low evidence)
Hereditary Spastic Paraplegia - adult onset v0.121 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - adult onset v0.120 LYST Zornitza Stark Marked gene: LYST as ready
Hereditary Spastic Paraplegia - adult onset v0.120 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.120 ATP2B4 Zornitza Stark Marked gene: ATP2B4 as ready
Hereditary Spastic Paraplegia - adult onset v0.120 ATP2B4 Zornitza Stark Gene: atp2b4 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.120 ATP2B4 Zornitza Stark Mode of inheritance for gene: ATP2B4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.119 ZFYVE26 Zornitza Stark Marked gene: ZFYVE26 as ready
Hereditary Spastic Paraplegia - adult onset v0.119 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.119 ZFYVE26 Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive, 270700 to Spastic paraplegia 15, autosomal recessive, 270700; MONDO:0010044
Hereditary Spastic Paraplegia - adult onset v0.118 ZFYVE26 Zornitza Stark Publications for gene: ZFYVE26 were set to
Hereditary Spastic Paraplegia - adult onset v0.117 ZFYVE26 Zornitza Stark changed review comment from: Complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable intellectual disability, hearing and visual defects, and thin corpus callosum. Late childhood onset reported.
Sources: Expert list; to: Complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable intellectual disability, hearing and visual defects, and thin corpus callosum. Onset in second decade reported.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.117 ZFYVE26 Zornitza Stark edited their review of gene: ZFYVE26: Changed publications: 31385551; Changed phenotypes: Spastic paraplegia 15, autosomal recessive, MIM# 270700
Hereditary Spastic Paraplegia - adult onset v0.117 WASHC5 Zornitza Stark Marked gene: WASHC5 as ready
Hereditary Spastic Paraplegia - adult onset v0.117 WASHC5 Zornitza Stark Gene: washc5 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.117 WASHC5 Zornitza Stark Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, 603563; MONDO:0011339
Hereditary Spastic Paraplegia - adult onset v0.116 WASHC5 Zornitza Stark Publications for gene: WASHC5 were set to
Hereditary Spastic Paraplegia - adult onset v0.115 WASHC5 Zornitza Stark Mode of inheritance for gene: WASHC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.114 WASHC5 Zornitza Stark reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23455931, 17160902, 31814071, 26572744; Phenotypes: Spastic paraplegia 8, autosomal dominant, MIM# 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - paediatric v1.3 UBAP1 Zornitza Stark changed review comment from: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.
Sources: Literature; to: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.

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

PMID 32934340: additional 7 families. Median age of onset 10yrs.
Mendeliome v0.6742 UBAP1 Zornitza Stark edited their review of gene: UBAP1: Changed publications: 31696996, 32934340
Hereditary Spastic Paraplegia - adult onset v0.114 UBAP1 Zornitza Stark Marked gene: UBAP1 as ready
Hereditary Spastic Paraplegia - adult onset v0.114 UBAP1 Zornitza Stark Gene: ubap1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.114 UBAP1 Zornitza Stark Phenotypes for gene: UBAP1 were changed from Hereditary spastic paraplegia to Spastic paraplegia 80, autosomal dominant 618418
Hereditary Spastic Paraplegia - adult onset v0.113 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to
Hereditary Spastic Paraplegia - adult onset v0.112 UBAP1 Zornitza Stark Mode of pathogenicity for gene: UBAP1 was changed from to Other
Hereditary Spastic Paraplegia - adult onset v0.111 UBAP1 Zornitza Stark Mode of inheritance for gene: UBAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.110 UBAP1 Zornitza Stark changed review comment from: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.
Sources: Literature; to: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.

PMID 32934340: additional 7 families. Median age of onset 10yrs.
Sources: Literature
Hereditary Spastic Paraplegia - adult onset v0.110 UBAP1 Zornitza Stark edited their review of gene: UBAP1: Changed publications: 31696996, 32934340; Changed phenotypes: Childhood-onset hereditary spastic paraplegia, Spastic paraplegia 80, autosomal dominant 618418
Hereditary Spastic Paraplegia - adult onset v0.110 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Hereditary Spastic Paraplegia - adult onset v0.110 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.110 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to
Hereditary Spastic Paraplegia - adult onset v0.109 TUBB4A Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.108 TUBB4A Zornitza Stark Classified gene: TUBB4A as Amber List (moderate evidence)
Hereditary Spastic Paraplegia - adult onset v0.108 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - adult onset v0.107 TUBB4A Zornitza Stark edited their review of gene: TUBB4A: Changed rating: AMBER; Changed phenotypes: Leukodystrophy, hypomyelinating, 6, MIM# 612438
Hereditary Spastic Paraplegia - adult onset v0.107 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Hereditary Spastic Paraplegia - adult onset v0.107 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.107 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, 607259; MONDO:0011803
Hereditary Spastic Paraplegia - adult onset v0.106 SPG7 Zornitza Stark Publications for gene: SPG7 were set to
Hereditary Spastic Paraplegia - adult onset v0.105 SPG11 Zornitza Stark changed review comment from: ID, thin corpus callosum, neuropathy reported in some individuals. Spasticity onset in first, second, third decades.
Sources: Expert list; to: ID, thin corpus callosum, neuropathy reported in some individuals. Spasticity onset in first, second, third decades.

Note allelic disorders: ALS and neuropathy.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.105 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Hereditary Spastic Paraplegia - adult onset v0.105 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.105 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from Amyotrophic lateral sclerosis 5, juvenile, 602099, AR; Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR to Spastic paraplegia 11, autosomal recessive, MIM# 604360
Hereditary Spastic Paraplegia - adult onset v0.104 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Hereditary Spastic Paraplegia - adult onset v0.103 SPG11 Zornitza Stark changed review comment from: ID, thin corpus callosum, neuropathy reported in some individuals.
Sources: Expert list; to: ID, thin corpus callosum, neuropathy reported in some individuals. Spasticity onset in first, second, third decades.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.103 SACS Zornitza Stark Marked gene: SACS as ready
Hereditary Spastic Paraplegia - adult onset v0.103 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.103 SACS Zornitza Stark Tag SV/CNV tag was added to gene: SACS.
Hereditary Spastic Paraplegia - adult onset v0.103 SACS Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type, 270550 to Spastic ataxia, Charlevoix-Saguenay type, 270550; MONDO:0010041
Hereditary Spastic Paraplegia - paediatric v1.3 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, MIM# 604805 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489
Mendeliome v0.6742 RTN2 Zornitza Stark Marked gene: RTN2 as ready
Mendeliome v0.6742 RTN2 Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence).
Mendeliome v0.6742 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489
Mendeliome v0.6741 RTN2 Zornitza Stark Publications for gene: RTN2 were set to
Mendeliome v0.6740 RTN2 Zornitza Stark Mode of inheritance for gene: RTN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6739 RTN2 Zornitza Stark reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 27165006; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805, MONDO:0011489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.102 RTN2 Zornitza Stark Marked gene: RTN2 as ready
Hereditary Spastic Paraplegia - adult onset v0.102 RTN2 Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.102 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489
Hereditary Spastic Paraplegia - adult onset v0.101 RTN2 Zornitza Stark Publications for gene: RTN2 were set to
Hereditary Spastic Paraplegia - adult onset v0.100 RTN2 Zornitza Stark Mode of inheritance for gene: RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.99 REEP1 Zornitza Stark Phenotypes for gene: REEP1 were changed from Spastic paraplegia 31, autosomal dominant, 610250 to Spastic paraplegia 31, autosomal dominant, 610250; MONDO:0012453
Mendeliome v0.6739 KDM5B Elena Savva reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29276005, 30217758, 30409806; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, autosomal dominant autism spectrum disorder or intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.98 REEP1 Zornitza Stark Marked gene: REEP1 as ready
Hereditary Spastic Paraplegia - adult onset v0.98 REEP1 Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.98 REEP1 Zornitza Stark Publications for gene: REEP1 were set to
Hereditary Spastic Paraplegia - adult onset v0.97 REEP1 Zornitza Stark Mode of inheritance for gene: REEP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.96 REEP1 Zornitza Stark changed review comment from: Gene also causes a neuropathy, and the two manifestations may represent a spectrum of disease. Age of onset highly variable, but onset in late childhood described.
Sources: Expert list; to: Gene also causes a neuropathy, and the two manifestations may represent a spectrum of disease. Age of onset highly variable.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.96 PSEN1 Zornitza Stark Marked gene: PSEN1 as ready
Hereditary Spastic Paraplegia - adult onset v0.96 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.96 PSEN1 Zornitza Stark Phenotypes for gene: PSEN1 were changed from Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques to Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822
Hereditary Spastic Paraplegia - adult onset v0.95 PSEN1 Zornitza Stark Publications for gene: PSEN1 were set to
Hereditary Spastic Paraplegia - adult onset v0.94 PSEN1 Zornitza Stark Mode of inheritance for gene: PSEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.93 PSEN1 Zornitza Stark reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33274538; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.93 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Hereditary Spastic Paraplegia - adult onset v0.93 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.93 PNPLA6 Zornitza Stark Publications for gene: PNPLA6 were set to
Hereditary Spastic Paraplegia - adult onset v0.92 PNPLA6 Zornitza Stark changed review comment from: Bi-allelic variants cause a range of complex phenotypes, including ataxia, retinal dystrophy, spasticity and hypogonadotrophic hypogonadism. Symptom onset is generally in adulthood, although at least one family with onset of spasticity in childhood reported.
Sources: Expert list; to: Bi-allelic variants cause a range of complex phenotypes, including ataxia, retinal dystrophy, spasticity and hypogonadotrophic hypogonadism. Symptom onset is generally in adulthood.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.92 PNPLA6 Zornitza Stark edited their review of gene: PNPLA6: Changed rating: GREEN; Changed phenotypes: Spastic paraplegia 39, autosomal recessive, MIM# 612020
Hereditary Spastic Paraplegia - adult onset v0.92 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Hereditary Spastic Paraplegia - adult onset v0.92 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.92 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Hereditary Spastic Paraplegia - adult onset v0.91 PLP1 Zornitza Stark changed review comment from: Allelic disorder to Pelizaeus-Merzbacher disease.
Sources: Expert list; to: Allelic disorder to Pelizaeus-Merzbacher disease. Variable age of onset, sometimes associated with ID.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.91 PCYT2 Zornitza Stark Phenotypes for gene: PCYT2 were changed from global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy to Spastic paraplegia 82, autosomal recessive, MIM# 618770; global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy
Hereditary Spastic Paraplegia - adult onset v0.90 PCYT2 Zornitza Stark Marked gene: PCYT2 as ready
Hereditary Spastic Paraplegia - adult onset v0.90 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.90 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Hereditary Spastic Paraplegia - adult onset v0.90 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.90 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD; 3-methylglutaconic aciduria, type III, 258501 to 3-methylglutaconic aciduria, type III, MIM# 258501
Mendeliome v0.6739 NIPA1 Zornitza Stark Marked gene: NIPA1 as ready
Mendeliome v0.6739 NIPA1 Zornitza Stark Gene: nipa1 has been classified as Green List (High Evidence).
Mendeliome v0.6739 NIPA1 Zornitza Stark Phenotypes for gene: NIPA1 were changed from to Spastic paraplegia 6, autosomal dominant, MIM# 600363; MONDO:0010878
Mendeliome v0.6738 NIPA1 Zornitza Stark Publications for gene: NIPA1 were set to
Mendeliome v0.6737 NIPA1 Zornitza Stark Mode of inheritance for gene: NIPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6736 NIPA1 Zornitza Stark reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14508710, 15711826, 32500351, 25133278; Phenotypes: Spastic paraplegia 6, autosomal dominant, MIM# 600363, MONDO:0010878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.89 NIPA1 Zornitza Stark Publications for gene: NIPA1 were set to 14508710; 15711826
Hereditary Spastic Paraplegia - adult onset v0.88 NIPA1 Zornitza Stark Mode of inheritance for gene: NIPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.87 NIPA1 Zornitza Stark edited their review of gene: NIPA1: Changed publications: 14508710, 15711826, 32500351, 25133278; Changed phenotypes: Spastic paraplegia 6, autosomal dominant, MIM# 600363
Hereditary Spastic Paraplegia - adult onset v0.87 NIPA1 Zornitza Stark Marked gene: NIPA1 as ready
Hereditary Spastic Paraplegia - adult onset v0.87 NIPA1 Zornitza Stark Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.87 NIPA1 Zornitza Stark Phenotypes for gene: NIPA1 were changed from Spastic paraplegia 6, autosomal dominant, MIM# 600363 to Spastic paraplegia 6, autosomal dominant, MIM# 600363; MONDO:0010878
Hereditary Spastic Paraplegia - adult onset v0.86 NIPA1 Zornitza Stark Phenotypes for gene: NIPA1 were changed from Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 to Spastic paraplegia 6, autosomal dominant, MIM# 600363
Hereditary Spastic Paraplegia - adult onset v0.85 NIPA1 Zornitza Stark Publications for gene: NIPA1 were set to
Hereditary Spastic Paraplegia - adult onset v0.84 NIPA1 Zornitza Stark changed review comment from: Onset typically in second/third decade, but onset in late childhood also reported.
Sources: Expert list; to: Onset typically in second/third decade.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.84 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Hereditary Spastic Paraplegia - adult onset v0.84 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.84 KIF5A Zornitza Stark Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 to Spastic paraplegia 10, autosomal dominant, MIM# 604187
Hereditary Spastic Paraplegia - adult onset v0.83 KIF5A Zornitza Stark Publications for gene: KIF5A were set to
Hereditary Spastic Paraplegia - adult onset v0.82 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Hereditary Spastic Paraplegia - adult onset v0.82 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.82 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from Mental retardation, autosomal dominant 9, 614255, AD; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR to Spastic paraplegia 30, autosomal recessive, 610357
Hereditary Spastic Paraplegia - adult onset v0.81 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Hereditary Spastic Paraplegia - adult onset v0.80 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive, 614409 to Spastic paraplegia 46, autosomal recessive, 614409; MONDO:0013737
Hereditary Spastic Paraplegia - adult onset v0.79 GBA2 Zornitza Stark edited their review of gene: GBA2: Changed phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737
Hereditary Spastic Paraplegia - adult onset v0.79 GBA2 Zornitza Stark edited their review of gene: GBA2: Changed publications: 23332916, 23332917, 29524657; Changed phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409
Hereditary Spastic Paraplegia - adult onset v0.79 GBA2 Zornitza Stark changed review comment from: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.
Sources: Expert list; to: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.

Adult onset reported, PMID 29524657.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.79 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Hereditary Spastic Paraplegia - adult onset v0.79 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3521 DOCK7 Paul De Fazio reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.1039 DOCK7 Paul De Fazio reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6736 DOCK7 Paul De Fazio reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Spastic Paraplegia - adult onset v0.79 GBA2 Zornitza Stark Publications for gene: GBA2 were set to 23332916; 23332917
Hereditary Spastic Paraplegia - adult onset v0.78 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Hereditary Spastic Paraplegia - adult onset v0.77 FXN Zornitza Stark Tag SV/CNV tag was added to gene: FXN.
Hereditary Spastic Paraplegia - adult onset v0.77 FBXO7 Zornitza Stark Phenotypes for gene: FBXO7 were changed from Parkinson disease 15 to Parkinson disease 15, autosomal recessive MIM#260300
Hereditary Spastic Paraplegia - adult onset v0.76 FBXO7 Zornitza Stark Publications for gene: FBXO7 were set to
Hereditary Spastic Paraplegia - adult onset v0.75 FA2H Zornitza Stark Marked gene: FA2H as ready
Hereditary Spastic Paraplegia - adult onset v0.75 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.75 FA2H Zornitza Stark Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, 611026 to Spastic paraplegia 35, autosomal recessive, 611026; MONDO:0012866
Hereditary Spastic Paraplegia - adult onset v0.74 FA2H Zornitza Stark Publications for gene: FA2H were set to
Hereditary Spastic Paraplegia - adult onset v0.73 FA2H Zornitza Stark changed review comment from: Complex form of HSP characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. In addition, some indviduals have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA).
Sources: Expert list; to: Complex form of HSP characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. In addition, some indviduals have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA).

Rare reports of adult onset, PMID 30446360
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.73 FA2H Zornitza Stark edited their review of gene: FA2H: Changed publications: 20104589, 23745665, 19068277, 20853438, 22146942, 30446360; Changed phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319
Hereditary Spastic Paraplegia - adult onset v0.73 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225 to Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; MONDO:0012639
Hereditary Spastic Paraplegia - adult onset v0.72 ERLIN2 Zornitza Stark Marked gene: ERLIN2 as ready
Hereditary Spastic Paraplegia - adult onset v0.72 ERLIN2 Zornitza Stark Gene: erlin2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.72 ERLIN2 Zornitza Stark Publications for gene: ERLIN2 were set to
Hereditary Spastic Paraplegia - adult onset v0.71 ERLIN2 Zornitza Stark Mode of inheritance for gene: ERLIN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.70 ERLIN2 Zornitza Stark changed review comment from: B-allelic variants: early onset complex HSP, including ID and contractures. Mono-allelic variants reported with isolated HSP, variable age of onset including childhood.
Sources: Expert list; to: B-allelic variants: early onset complex HSP, including ID and contractures. Mono-allelic variants reported with isolated HSP, variable age of onset.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.70 DDHD2 Zornitza Stark Marked gene: DDHD2 as ready
Hereditary Spastic Paraplegia - adult onset v0.70 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.70 DDHD2 Zornitza Stark Classified gene: DDHD2 as Green List (high evidence)
Hereditary Spastic Paraplegia - adult onset v0.70 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.69 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to 23486545; 24482476; 23176823; 31302745
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, MIM# 615033; MONDO:0014018
Review for gene: DDHD2 was set to GREEN
Added comment: SPG54 is typically characterized by early-onset (i.e., congenital or, more frequently, infantile) delay in motor and cognitive milestones, coupled or followed by appearance of spasticity. Cognitive impairment is absent in adult-onset cases.

More than 10 unrelated families reported.
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v1.2 DDHD2 Zornitza Stark Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive, MIM# 615033 to Spastic paraplegia 54, autosomal recessive, MIM# 615033; MONDO:0014018
Hereditary Spastic Paraplegia - paediatric v1.1 DDHD2 Zornitza Stark changed review comment from: At least 7 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak.
Sources: Expert list; to: More than 10 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak.
Sources: Expert list
Hereditary Spastic Paraplegia - paediatric v1.1 DDHD2 Zornitza Stark edited their review of gene: DDHD2: Changed publications: 23486545, 24482476, 23176823, 31302745; Changed phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033
Hereditary Spastic Paraplegia - adult onset v0.68 Zornitza Stark removed gene:DDHD2 from the panel
Mendeliome v0.6736 DDHD1 Zornitza Stark Marked gene: DDHD1 as ready
Mendeliome v0.6736 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence).
Mendeliome v0.6736 DDHD1 Zornitza Stark Phenotypes for gene: DDHD1 were changed from to Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256
Mendeliome v0.6735 DDHD1 Zornitza Stark Publications for gene: DDHD1 were set to
Mendeliome v0.6734 DDHD1 Zornitza Stark Mode of inheritance for gene: DDHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6733 DDHD1 Zornitza Stark reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v1.1 DDHD1 Zornitza Stark Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, MIM# 609340 to Spastic paraplegia 28, autosomal recessive, MIM# 609340; MONDO:0012256
Hereditary Spastic Paraplegia - paediatric v1.0 DDHD1 Zornitza Stark edited their review of gene: DDHD1: Changed phenotypes: Spastic paraplegia 28, autosomal recessive, MIM# 609340, MONDO:0012256
Hereditary Spastic Paraplegia - adult onset v0.67 DDHD1 Zornitza Stark Marked gene: DDHD1 as ready
Hereditary Spastic Paraplegia - adult onset v0.67 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.67 DDHD1 Zornitza Stark Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 609340 to Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256
Hereditary Spastic Paraplegia - adult onset v0.66 DDHD1 Zornitza Stark changed review comment from: At least three unrelated families reported, childhood onset.
Sources: Expert list; to: At least three unrelated families reported, onset in first and second decades.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.66 DDHD1 Zornitza Stark Publications for gene: DDHD1 were set to
Hereditary Spastic Paraplegia - adult onset v0.65 DARS Zornitza Stark Marked gene: DARS as ready
Hereditary Spastic Paraplegia - adult onset v0.65 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.65 DARS Zornitza Stark Publications for gene: DARS were set to
Hereditary Spastic Paraplegia - adult onset v0.64 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, 270800 to Spastic paraplegia 5A, autosomal recessive, 270800; MONDO:0010047
Hereditary Spastic Paraplegia - adult onset v0.63 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Hereditary Spastic Paraplegia - adult onset v0.63 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.63 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Hereditary Spastic Paraplegia - adult onset v0.62 CYP7B1 Zornitza Stark changed review comment from: Some individuals have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia. Onset highly variable, but childhood onset described in multiple individuals.
Sources: Expert list; to: Some individuals have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia. Onset highly variable, 8-40 years.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.62 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Hereditary Spastic Paraplegia - adult onset v0.62 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.62 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; MONDO:0008948; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Hereditary Spastic Paraplegia - adult onset v0.61 CYP27A1 Zornitza Stark edited their review of gene: CYP27A1: Changed rating: GREEN
Hereditary Spastic Paraplegia - adult onset v0.61 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis MIM#213700; Mode of inheritance: None
Mendeliome v0.6733 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 23973755
Mendeliome v0.6732 CPT1C Zornitza Stark reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564185; Phenotypes: Spastic paraplegia 73, autosomal dominant MIM#616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6732 CPT1C Zornitza Stark Phenotypes for gene: CPT1C were changed from Spastic paraplegia 73, autosomal dominant MIM#616282 to Spastic paraplegia 73, autosomal dominant MIM#616282; MONDO:0014568
Hereditary Spastic Paraplegia - adult onset v0.61 CPT1C Zornitza Stark Phenotypes for gene: CPT1C were changed from Spastic paraplegia 73, autosomal dominant, MIM#616282 to Spastic paraplegia 73, autosomal dominant, MIM#616282; MONDO:0014568
Hereditary Spastic Paraplegia - adult onset v0.60 CPT1C Zornitza Stark changed review comment from: Two more individuals identified as part of a cohort study.; to: Two more individuals identified as part of a cohort study.

Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
Hereditary Spastic Paraplegia - adult onset v0.60 CPT1C Zornitza Stark Mode of inheritance for gene: CPT1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.130 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76, autosomal recessive, 616907 to Spastic paraplegia 76, autosomal recessive, 616907; MONDO:0014827
Ataxia - adult onset v0.129 CAPN1 Zornitza Stark edited their review of gene: CAPN1: Changed phenotypes: Spastic paraplegia 76, autosomal recessive, MIM#616907, MONDO:0014827
Mendeliome v0.6731 CAPN1 Zornitza Stark Publications for gene: CAPN1 were set to 27153400
Mendeliome v0.6730 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76, autosomal recessive, MIM#616907 to Spastic paraplegia 76, autosomal recessive, MIM#616907; MONDO:0014827
Hereditary Spastic Paraplegia - adult onset v0.59 CAPN1 Zornitza Stark Marked gene: CAPN1 as ready
Hereditary Spastic Paraplegia - adult onset v0.59 CAPN1 Zornitza Stark Gene: capn1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.59 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76 autosomal recessive, 616907 to Spastic paraplegia 76 autosomal recessive, 616907; MONDO:0014827
Hereditary Spastic Paraplegia - adult onset v0.58 CAPN1 Zornitza Stark Publications for gene: CAPN1 were set to
Hereditary Spastic Paraplegia - adult onset v0.57 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Hereditary Spastic Paraplegia - adult onset v0.57 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.57 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685; HSP 14, MONDO:0010043 to Silver spastic paraplegia syndrome, 270685; HSP 17, MONDO:0010043
Hereditary Spastic Paraplegia - adult onset v0.56 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, 270685; HSP 14, MONDO:0010043
Hereditary Spastic Paraplegia - adult onset v0.55 BSCL2 Zornitza Stark changed review comment from: Age of onset 8-40 years.; to: Age of onset 8-40 years.

Bi-allelic variants cause a more severe neurodegenerative phenotype with onset in first few years of life.
Hereditary Spastic Paraplegia - adult onset v0.55 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Silver spastic paraplegia syndrome MIM#270685; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.55 B4GALNT1 Zornitza Stark Marked gene: B4GALNT1 as ready
Hereditary Spastic Paraplegia - adult onset v0.55 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.55 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Hereditary Spastic Paraplegia - adult onset v0.55 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.55 ATP13A2 Zornitza Stark Publications for gene: ATP13A2 were set to
Hereditary Spastic Paraplegia - adult onset v0.54 ATL1 Zornitza Stark changed review comment from: Age of onset is variable (first, second, third decade).

No clear genotype-phenotype correlation. However, most SPG3A exhibits an early onset, and most mutations are missense mutations (PMID: 28396731). Hom nonsense (PMID: 24473461) and hom missense (PMID: 26888483) were reported for AR HSP. Disease mechanism (PTC variants): LoF LoF: hom nonsense (p.R217* in alt transcript) identified in a consanguineous family, and carriers are healthy (PMID: 26888483). Disease mechanism (missense variants): Dominant negative: Mutant atlastin-1 protein functionally impair the atlastin-1 oligomer by binding to WT protein —> reduce GTPase activity (PMID: 16537571) —> cause HSP3A LoF: Variants fall outside of the GTPase related motifs or the conserved motifs is linked to neuropathy, suggesting an alternative mechanism is used apart from dom-neg (PMID: 28396731) —> cause HSN1D More than 90% of the mutations were located in exon 4, 7, 8 and 12 (PMID: 16401858); to: Age of onset is variable (first, second, third decade).
Hereditary Spastic Paraplegia - adult onset v0.54 ATL1 Zornitza Stark Marked gene: ATL1 as ready
Hereditary Spastic Paraplegia - adult onset v0.54 ATL1 Zornitza Stark Gene: atl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.54 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708 to Spastic paraplegia 3A, MIM 182600; Hereditary spastic paraplegia, AR
Hereditary Spastic Paraplegia - adult onset v0.53 ATL1 Zornitza Stark Publications for gene: ATL1 were set to
Hereditary Spastic Paraplegia - adult onset v0.52 ATL1 Zornitza Stark Mode of inheritance for gene: ATL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.51 ATL1 Zornitza Stark changed review comment from: No clear genotype-phenotype correlation. However, most SPG3A exhibits an early onset, and most mutations are missense mutations (PMID: 28396731). Hom nonsense (PMID: 24473461) and hom missense (PMID: 26888483) were reported for AR HSP. Disease mechanism (PTC variants): LoF LoF: hom nonsense (p.R217* in alt transcript) identified in a consanguineous family, and carriers are healthy (PMID: 26888483). Disease mechanism (missense variants): Dominant negative: Mutant atlastin-1 protein functionally impair the atlastin-1 oligomer by binding to WT protein —> reduce GTPase activity (PMID: 16537571) —> cause HSP3A LoF: Variants fall outside of the GTPase related motifs or the conserved motifs is linked to neuropathy, suggesting an alternative mechanism is used apart from dom-neg (PMID: 28396731) —> cause HSN1D More than 90% of the mutations were located in exon 4, 7, 8 and 12 (PMID: 16401858); to: Age of onset is variable (first, second, third decade).

No clear genotype-phenotype correlation. However, most SPG3A exhibits an early onset, and most mutations are missense mutations (PMID: 28396731). Hom nonsense (PMID: 24473461) and hom missense (PMID: 26888483) were reported for AR HSP. Disease mechanism (PTC variants): LoF LoF: hom nonsense (p.R217* in alt transcript) identified in a consanguineous family, and carriers are healthy (PMID: 26888483). Disease mechanism (missense variants): Dominant negative: Mutant atlastin-1 protein functionally impair the atlastin-1 oligomer by binding to WT protein —> reduce GTPase activity (PMID: 16537571) —> cause HSP3A LoF: Variants fall outside of the GTPase related motifs or the conserved motifs is linked to neuropathy, suggesting an alternative mechanism is used apart from dom-neg (PMID: 28396731) —> cause HSN1D More than 90% of the mutations were located in exon 4, 7, 8 and 12 (PMID: 16401858)
Malformations of cortical development_Superpanel v3.4 Zornitza Stark Panel name changed from Malformations of cortical development to Malformations of cortical development_Superpanel
Mendeliome v0.6729 AP5Z1 Zornitza Stark Marked gene: AP5Z1 as ready
Mendeliome v0.6729 AP5Z1 Zornitza Stark Gene: ap5z1 has been classified as Green List (High Evidence).
Mendeliome v0.6729 AP5Z1 Zornitza Stark Phenotypes for gene: AP5Z1 were changed from to Spastic paraplegia 48, autosomal recessive, MIM# 613647; MONDO:0013342
Mendeliome v0.6728 AP5Z1 Zornitza Stark Publications for gene: AP5Z1 were set to
Mendeliome v0.6727 AP5Z1 Zornitza Stark Mode of inheritance for gene: AP5Z1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6726 AP5Z1 Zornitza Stark reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26085577, 33543803, 27606357; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647, MONDO:0013342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.51 AP5Z1 Zornitza Stark Publications for gene: AP5Z1 were set to 26085577
Hereditary Spastic Paraplegia - adult onset v0.50 AP5Z1 Zornitza Stark edited their review of gene: AP5Z1: Changed publications: 26085577, 33543803, 27606357
Hereditary Spastic Paraplegia - adult onset v0.50 AP5Z1 Zornitza Stark Marked gene: AP5Z1 as ready
Hereditary Spastic Paraplegia - adult onset v0.50 AP5Z1 Zornitza Stark Gene: ap5z1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.50 AP5Z1 Zornitza Stark Phenotypes for gene: AP5Z1 were changed from Spastic paraplegia 48, autosomal recessive, MIM# 613647 to Spastic paraplegia 48, autosomal recessive, MIM# 613647; MONDO:0013342
Hereditary Spastic Paraplegia - adult onset v0.49 AP5Z1 Zornitza Stark Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive, 613647; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, MIM# 613647
Hereditary Spastic Paraplegia - adult onset v0.48 AP5Z1 Zornitza Stark Publications for gene: AP5Z1 were set to
Hereditary Spastic Paraplegia - adult onset v0.47 AP5Z1 Zornitza Stark edited their review of gene: AP5Z1: Changed rating: GREEN; Changed phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647
Hereditary Spastic Paraplegia - adult onset v0.47 AP5Z1 Zornitza Stark changed review comment from: Onset is generally in adulthood though at least one individual with childhood onset reported.
Sources: Expert list; to: Onset is generally in adulthood.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.47 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Hereditary Spastic Paraplegia - adult onset v0.47 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.47 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal dominant 3 616603; SPG9; Spastic paraplegia 9B, autosomal recessive 616586; Cutis laxa, autosomal recessive, type IIIA 219150; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Spastic paraplegia 9A, autosomal dominant 601162 to Spastic paraplegia 9B, autosomal recessive, MIM# 616586; Spastic paraplegia 9A, autosomal dominant, MIM# 601162
Hereditary Spastic Paraplegia - adult onset v0.46 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Hereditary Spastic Paraplegia - adult onset v0.45 ALDH18A1 Zornitza Stark changed review comment from: At least four unrelated families reported with bi-allelic complex HSP, including microcephaly and ID. Mono-allelic variants are also associated with HSP (at least 15 patients from 3 families) but this tends to be with adult onset, although some childhood onset also reported.
Sources: Expert list; to: At least four unrelated families reported with bi-allelic complex HSP, including microcephaly and ID. Mono-allelic variants are also associated with HSP (at least 15 patients from 3 families). This tends to be with adult onset, although some childhood onset also reported.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.45 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Hereditary Spastic Paraplegia - adult onset v0.45 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Pancreatitis v1.1 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Microcephaly v0.546 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Microcephaly v0.546 COPB1 Zornitza Stark Gene: copb1 has been classified as Red List (Low Evidence).
Microcephaly v0.546 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to RED
Added comment: Two unrelated families, some supportive functional data. Microcephaly is not a consistent feature in the families reported to date.
Sources: Literature
Cataract v0.267 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Cataract v0.267 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Cataract v0.267 COPB1 Zornitza Stark Classified gene: COPB1 as Amber List (moderate evidence)
Cataract v0.267 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Cataract v0.266 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to AMBER
Added comment: Two unrelated families, some supportive functional data.
Sources: Literature
Mendeliome v0.6726 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Mendeliome v0.6726 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6726 COPB1 Zornitza Stark Classified gene: COPB1 as Amber List (moderate evidence)
Mendeliome v0.6726 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6725 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to AMBER
Added comment: Two unrelated families, some supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3521 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Intellectual disability syndromic and non-syndromic v0.3521 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3521 COPB1 Zornitza Stark Classified gene: COPB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3521 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3520 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to AMBER
Added comment: Two unrelated families, some supportive functional data.
Sources: Literature
Hydrocephalus_Ventriculomegaly v0.84 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Hydrocephalus_Ventriculomegaly v0.84 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.84 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730
Hydrocephalus_Ventriculomegaly v0.83 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Hydrocephalus_Ventriculomegaly v0.82 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.81 CRB2 Zornitza Stark reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 27004616; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 CRB2 Zornitza Stark Gene: crb2 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 CRB2 Zornitza Stark Classified gene: CRB2 as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 CRB2 Zornitza Stark Gene: crb2 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.83 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 30593785; 31438467; 33575434; 30239717
Phenotypes for gene: CRB2 were set to Retinitis pigmentosa
Review for gene: CRB2 was set to AMBER
Added comment: Single family reported with isolated RP. Multiple lines of functional evidence support role of CRB2 in retinal epithelium. Families also reported with multi-system ciliopathy phenotype.
Sources: Expert Review
Ciliopathies v0.232 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Ciliopathies v0.232 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Ciliopathies v0.232 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730
Ciliopathies v0.231 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Ciliopathies v0.230 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.230 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.229 CRB2 Zornitza Stark reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.159 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Proteinuria v0.159 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Proteinuria v0.159 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730
Proteinuria v0.158 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Proteinuria v0.157 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.156 CRB2 Zornitza Stark reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.125 CRB2 Zornitza Stark Publications for gene: CRB2 were set to 25557780
Renal Ciliopathies and Nephronophthisis v0.124 CRB2 Zornitza Stark changed review comment from: Three unrelated families described.
Sources: Expert list; to: More than 5 unrelated families reported, mouse model.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.124 CRB2 Zornitza Stark edited their review of gene: CRB2: Changed publications: 25557780, 33687977, 32051522, 30212996; Changed phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730
Hereditary Spastic Paraplegia - paediatric v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary Spastic Paraplegia - paediatric v0.215 SPART Zornitza Stark Marked gene: SPART as ready
Hereditary Spastic Paraplegia - paediatric v0.215 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.215 SPART Zornitza Stark Phenotypes for gene: SPART were changed from Troyer syndrome; Spastic paraplegia 20, autosomal recessive to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156
Hereditary Spastic Paraplegia - paediatric v0.214 SPART Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). More than 5 unrelated families reported.
Hereditary Spastic Paraplegia - paediatric v0.214 SPART Zornitza Stark Publications for gene: SPART were set to
Hereditary Spastic Paraplegia - paediatric v0.213 SPART Zornitza Stark reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 20437587, 26003402, 27112432, 31535723, 31535723, 28875386, 28679690; Phenotypes: Troyer syndrome, MIM# 275900, SPG20, MONDO:0010156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.213 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Hereditary Spastic Paraplegia - paediatric v0.213 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.213 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure
Hereditary Spastic Paraplegia - paediatric v0.212 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.211 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.211 ALS2 Zornitza Stark Marked gene: ALS2 as ready
Hereditary Spastic Paraplegia - paediatric v0.211 ALS2 Zornitza Stark Gene: als2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.211 ALS2 Zornitza Stark Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Spastic paralysis, infantile onset ascending,autosomal recessive, 607225 to Spastic paralysis, infantile onset ascending, MIM# 607225
Hereditary Spastic Paraplegia - paediatric v0.210 ALS2 Zornitza Stark Publications for gene: ALS2 were set to
Hereditary Spastic Paraplegia - paediatric v0.209 ALS2 Zornitza Stark reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145748, 12509863, 24315819; Phenotypes: Spastic paralysis, infantile onset ascending, MIM# 607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.209 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; MONDO:0014725
Intellectual disability syndromic and non-syndromic v0.3519 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Intellectual disability syndromic and non-syndromic v0.3518 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Microcephaly v0.545 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Mendeliome v0.6724 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Genetic Epilepsy v0.1039 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725
Genetic Epilepsy v0.1038 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Genetic Epilepsy v0.1038 SLC1A4 Zornitza Stark changed review comment from: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list; to: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry (p.Glu256Lys), there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Mendeliome v0.6723 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Mendeliome v0.6723 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Mendeliome v0.6723 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Mendeliome v0.6722 SLC1A4 Zornitza Stark Publications for gene: SLC1A4 were set to
Mendeliome v0.6721 SLC1A4 Zornitza Stark Mode of inheritance for gene: SLC1A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6720 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Hereditary Spastic Paraplegia - paediatric v0.208 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Hereditary Spastic Paraplegia - paediatric v0.208 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Hereditary Spastic Paraplegia - paediatric v0.208 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.208 SLC1A4 Zornitza Stark Publications for gene: SLC1A4 were set to
Hereditary Spastic Paraplegia - paediatric v0.207 SLC1A4 Zornitza Stark reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.207 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Hereditary Spastic Paraplegia - paediatric v0.207 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.207 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDHEL syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Hereditary Spastic Paraplegia - paediatric v0.206 SERAC1 Zornitza Stark reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.206 CLPP Zornitza Stark Marked gene: CLPP as ready
Hereditary Spastic Paraplegia - paediatric v0.206 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.206 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from Perrault syndrome 3 to Perrault syndrome 3 MIM#614129
Hereditary Spastic Paraplegia - paediatric v0.205 CLPP Zornitza Stark Publications for gene: CLPP were set to
Hereditary Spastic Paraplegia - paediatric v0.204 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Hereditary Spastic Paraplegia - paediatric v0.204 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.204 USP8 Zornitza Stark Marked gene: USP8 as ready
Hereditary Spastic Paraplegia - paediatric v0.204 USP8 Zornitza Stark Gene: usp8 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia - paediatric v0.204 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Hereditary Spastic Paraplegia - paediatric v0.204 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.204 IFIH1 Zornitza Stark Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 to Aicardi-Goutieres syndrome 7 MIM#615846
Hereditary Spastic Paraplegia - paediatric v0.203 IFIH1 Zornitza Stark Publications for gene: IFIH1 were set to
Hereditary Spastic Paraplegia - paediatric v0.202 IFIH1 Zornitza Stark Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6720 TFG Zornitza Stark Marked gene: TFG as ready
Mendeliome v0.6720 TFG Zornitza Stark Gene: tfg has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.71 TFG Zornitza Stark Marked gene: TFG as ready
Hereditary Neuropathy_CMT - isolated v0.71 TFG Zornitza Stark Gene: tfg has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.71 TFG Zornitza Stark Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; HMSN; Hereditary motor and sensory neuropathy, proximal type, 604484 to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484
Hereditary Neuropathy_CMT - isolated v0.70 TFG Zornitza Stark Publications for gene: TFG were set to
Hereditary Neuropathy_CMT - isolated v0.69 TFG Zornitza Stark reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25098539, 23553329, 22883144, 31449671, 31111683; Phenotypes: Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6720 TFG Zornitza Stark Phenotypes for gene: TFG were changed from to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484; Spastic paraplegia 57, autosomal recessive, MIM# 615658
Mendeliome v0.6719 TFG Zornitza Stark Mode of inheritance for gene: TFG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6718 TFG Zornitza Stark reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30467354, 30157421, 28124177, 27601211, 27492651, 23479643, 25098539, 23553329, 22883144, 31449671, 31111683; Phenotypes: Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484, Spastic paraplegia 57, autosomal recessive, MIM# 615658; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.201 TFG Zornitza Stark Marked gene: TFG as ready
Hereditary Spastic Paraplegia - paediatric v0.201 TFG Zornitza Stark Gene: tfg has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.201 TFG Zornitza Stark Phenotypes for gene: TFG were changed from ?Spastic paraplegia 57, autosomal recessive 615658,AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD to Spastic paraplegia 57, autosomal recessive, MIM# 615658
Hereditary Spastic Paraplegia - paediatric v0.200 TFG Zornitza Stark Publications for gene: TFG were set to
Hereditary Spastic Paraplegia - paediatric v0.199 TFG Zornitza Stark reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30467354, 30157421, 28124177, 27601211, 27492651, 23479643; Phenotypes: Spastic paraplegia 57, autosomal recessive, MIM# 615658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.249 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Regression v0.249 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Regression v0.249 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209
Regression v0.248 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Regression v0.247 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.246 UCHL1 Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.199 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Hereditary Spastic Paraplegia - paediatric v0.199 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.199 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209
Hereditary Spastic Paraplegia - paediatric v0.198 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Hereditary Spastic Paraplegia - paediatric v0.197 UCHL1 Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3518 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Intellectual disability syndromic and non-syndromic v0.3518 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3518 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977
Intellectual disability syndromic and non-syndromic v0.3517 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Intellectual disability syndromic and non-syndromic v0.3516 WDR45B Zornitza Stark Mode of inheritance for gene: WDR45B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3515 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6718 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Mendeliome v0.6718 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Mendeliome v0.6718 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977
Mendeliome v0.6717 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Mendeliome v0.6716 WDR45B Zornitza Stark Mode of inheritance for gene: WDR45B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6715 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.197 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Hereditary Spastic Paraplegia - paediatric v0.197 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.197 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 to Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM#617977
Hereditary Spastic Paraplegia - paediatric v0.196 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Hereditary Spastic Paraplegia - paediatric v0.195 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6715 REEP2 Zornitza Stark Marked gene: REEP2 as ready
Mendeliome v0.6715 REEP2 Zornitza Stark Gene: reep2 has been classified as Green List (High Evidence).
Mendeliome v0.6715 REEP2 Zornitza Stark Phenotypes for gene: REEP2 were changed from to Spastic paraplegia 72, dominant and recessive, MIM# 615625; MONDO:0014282
Mendeliome v0.6714 REEP2 Zornitza Stark Publications for gene: REEP2 were set to
Mendeliome v0.6713 REEP2 Zornitza Stark Mode of inheritance for gene: REEP2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6712 REEP2 Zornitza Stark reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33526816, 28491902, 24388663; Phenotypes: Spastic paraplegia 72, dominant and recessive, MIM# 615625, MONDO:0014282; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.195 REEP2 Zornitza Stark Marked gene: REEP2 as ready
Hereditary Spastic Paraplegia - paediatric v0.195 REEP2 Zornitza Stark Gene: reep2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.195 REEP2 Zornitza Stark Phenotypes for gene: REEP2 were changed from ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625 to Spastic paraplegia 72, dominant and recessive, MIM# 615625; MONDO:0014282
Hereditary Spastic Paraplegia - paediatric v0.194 REEP2 Zornitza Stark Publications for gene: REEP2 were set to
Hereditary Spastic Paraplegia - paediatric v0.193 REEP2 Zornitza Stark reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33526816, 28491902, 24388663; Phenotypes: Spastic paraplegia 72, dominant and recessive, MIM# 615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3515 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Intellectual disability syndromic and non-syndromic v0.3515 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3515 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165
Intellectual disability syndromic and non-syndromic v0.3514 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Intellectual disability syndromic and non-syndromic v0.3513 NT5C2 Zornitza Stark Mode of inheritance for gene: NT5C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3512 NT5C2 Zornitza Stark reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 32153630, 29123918, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162, MONDO:0013165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6712 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Mendeliome v0.6712 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Green List (High Evidence).
Mendeliome v0.6712 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165
Mendeliome v0.6711 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Mendeliome v0.6710 NT5C2 Zornitza Stark Mode of inheritance for gene: NT5C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6709 NT5C2 Zornitza Stark reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 32153630, 29123918, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162, MONDO:0013165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.193 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Hereditary Spastic Paraplegia - paediatric v0.193 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.193 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165
Hereditary Spastic Paraplegia - paediatric v0.192 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Hereditary Spastic Paraplegia - paediatric v0.191 NT5C2 Zornitza Stark reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 32153630, 29123918, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1038 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Genetic Epilepsy v0.1038 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1038 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764
Genetic Epilepsy v0.1037 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Genetic Epilepsy v0.1036 HACE1 Zornitza Stark Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1035 HACE1 Zornitza Stark reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3512 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Intellectual disability syndromic and non-syndromic v0.3512 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3512 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764
Intellectual disability syndromic and non-syndromic v0.3511 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Intellectual disability syndromic and non-syndromic v0.3510 HACE1 Zornitza Stark Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3509 HACE1 Zornitza Stark reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6709 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Mendeliome v0.6709 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Mendeliome v0.6709 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764
Mendeliome v0.6708 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Mendeliome v0.6707 HACE1 Zornitza Stark Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6706 HACE1 Zornitza Stark reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.191 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Hereditary Spastic Paraplegia - paediatric v0.191 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.191 HACE1 Zornitza Stark Publications for gene: HACE1 were set to 26424145; 26437029
Hereditary Spastic Paraplegia - paediatric v0.190 HACE1 Zornitza Stark edited their review of gene: HACE1: Changed phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764
Hereditary Spastic Paraplegia - paediatric v0.190 HACE1 Zornitza Stark reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31321300; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.190 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; psychomotor retardation to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764; Spastic paraplegia; psychomotor retardation
Hereditary Spastic Paraplegia - paediatric v0.189 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Mendeliome v0.6706 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Mendeliome v0.6706 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Green List (High Evidence).
Mendeliome v0.6706 NKX6-2 Zornitza Stark Phenotypes for gene: NKX6-2 were changed from to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; MONDO:0033043
Mendeliome v0.6705 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Mendeliome v0.6704 NKX6-2 Zornitza Stark Mode of inheritance for gene: NKX6-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6703 NKX6-2 Zornitza Stark reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560, MONDO:0033043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.188 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Hereditary Spastic Paraplegia - paediatric v0.188 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.188 NKX6-2 Zornitza Stark Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; MONDO:0033043
Hereditary Spastic Paraplegia - paediatric v0.187 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Hereditary Spastic Paraplegia - paediatric v0.186 NKX6-2 Zornitza Stark reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.186 KIDINS220 Zornitza Stark Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; MONDO:0015007
Mendeliome v0.6703 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Mendeliome v0.6703 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Mendeliome v0.6703 ARPC1B Zornitza Stark Phenotypes for gene: ARPC1B were changed from to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Mendeliome v0.6702 ARPC1B Zornitza Stark Publications for gene: ARPC1B were set to
Mendeliome v0.6701 ARPC1B Zornitza Stark Mode of inheritance for gene: ARPC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6700 ARPC1B Zornitza Stark reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28368018, 33679784; Phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.178 ARPC1B Zornitza Stark Publications for gene: ARPC1B were set to 28368018
Combined Immunodeficiency v0.177 ARPC1B Zornitza Stark edited their review of gene: ARPC1B: Added comment: Third family reported PMID 33679784; Changed publications: 28368018, 33679784; Changed phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Intellectual disability syndromic and non-syndromic v0.3509 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Intellectual disability syndromic and non-syndromic v0.3509 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3509 KIDINS220 Zornitza Stark Phenotypes for gene: KIDINS220 were changed from to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; MONDO:0015007
Intellectual disability syndromic and non-syndromic v0.3508 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to
Intellectual disability syndromic and non-syndromic v0.3507 KIDINS220 Zornitza Stark Mode of inheritance for gene: KIDINS220 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3506 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296, MONDO:0015007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - paediatric v0.185 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Hereditary Spastic Paraplegia - paediatric v0.185 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.185 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to
Hereditary Spastic Paraplegia - paediatric v0.184 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Changed phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296, MONDO:0015007
Hereditary Spastic Paraplegia - paediatric v0.184 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.81 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391
Hydrocephalus_Ventriculomegaly v0.80 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.80 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.79 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Added comment: Third family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676.; Changed rating: GREEN; Changed publications: 33205811, 28934391, 28934391, 32909676
Arthrogryposis v0.256 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391
Arthrogryposis v0.255 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence)
Arthrogryposis v0.255 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Arthrogryposis v0.254 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Added comment: Third family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676.; Changed rating: GREEN; Changed publications: 33205811, 28934391, 28934391, 32909676
Mendeliome v0.6700 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169; 27005418
Mendeliome v0.6699 KIDINS220 Zornitza Stark edited their review of gene: KIDINS220: Added comment: Note additional family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676, so total of 3 unrelated families for bi-allelic fetal phenotype.; Changed publications: 27005418, 32909676
Mendeliome v0.6699 KDM5C Zornitza Stark changed review comment from: Progressive lower limb spasticity is a feature of this ID syndrome. More than 5 unrelated families reported.; to: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.
Intellectual disability syndromic and non-syndromic v0.3506 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Intellectual disability syndromic and non-syndromic v0.3506 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3506 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355
Intellectual disability syndromic and non-syndromic v0.3505 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Intellectual disability syndromic and non-syndromic v0.3504 KDM5C Zornitza Stark Mode of inheritance for gene: KDM5C was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.3503 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6699 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Mendeliome v0.6699 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Mendeliome v0.6699 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355
Mendeliome v0.6698 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Mendeliome v0.6697 KDM5C Zornitza Stark Mode of inheritance for gene: KDM5C was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6696 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v0.59 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Cerebral Palsy v0.59 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Cerebral Palsy v0.59 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355
Cerebral Palsy v0.58 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Cerebral Palsy v0.57 KDM5C Zornitza Stark Mode of inheritance for gene: KDM5C was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral Palsy v0.56 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Spastic Paraplegia - paediatric v0.184 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Hereditary Spastic Paraplegia - paediatric v0.184 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.184 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from Intellectual disability; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; progressive spasticity; hypothyroidism; developmental delay; epilepsy to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355; progressive spasticity; hypothyroidism; developmental delay; epilepsy
Hereditary Spastic Paraplegia - paediatric v0.183 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Hereditary Spastic Paraplegia - paediatric v0.182 KDM5C Zornitza Stark reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Spastic Paraplegia - paediatric v0.182 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Hereditary Spastic Paraplegia - paediatric v0.182 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.182 FARS2 Zornitza Stark Publications for gene: FARS2 were set to
Mendeliome v0.6696 ENTPD1 Zornitza Stark Marked gene: ENTPD1 as ready
Mendeliome v0.6696 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Mendeliome v0.6696 ENTPD1 Zornitza Stark Phenotypes for gene: ENTPD1 were changed from to Spastic paraplegia 64, autosomal recessive MIM#615683
Mendeliome v0.6695 ENTPD1 Zornitza Stark Publications for gene: ENTPD1 were set to
Mendeliome v0.6694 ENTPD1 Zornitza Stark Mode of inheritance for gene: ENTPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6693 ENTPD1 Zornitza Stark reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive MIM#615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.181 ENTPD1 Zornitza Stark Marked gene: ENTPD1 as ready
Hereditary Spastic Paraplegia - paediatric v0.181 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.181 ENTPD1 Zornitza Stark Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive MIM#615683
Hereditary Spastic Paraplegia - paediatric v0.180 ENTPD1 Zornitza Stark Publications for gene: ENTPD1 were set to
Optic Atrophy v0.131 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Optic Atrophy v0.131 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559
Mitochondrial disease v0.585 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Mitochondrial disease v0.584 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.583 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6693 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Mendeliome v0.6693 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Mendeliome v0.6693 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559
Mendeliome v0.6692 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Mendeliome v0.6691 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6690 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Mendeliome v0.6690 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.179 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Hereditary Spastic Paraplegia - paediatric v0.179 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Hereditary Spastic Paraplegia - paediatric v0.179 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.179 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Hereditary Spastic Paraplegia - paediatric v0.178 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM# 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration with brain iron accumulation v0.5 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Neurodegeneration with brain iron accumulation v0.5 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v0.5 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from Mitochondrial membrane protein-associated neurodegeneration (MPAN) to Mitochondrial membrane protein-associated neurodegeneration (MPAN); Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043
Neurodegeneration with brain iron accumulation v0.4 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Neurodegeneration with brain iron accumulation v0.3 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6690 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Mendeliome v0.6690 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Mendeliome v0.6690 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043
Mendeliome v0.6689 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Mendeliome v0.6688 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6687 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.178 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.177 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Hereditary Spastic Paraplegia - paediatric v0.177 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.177 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Hereditary Spastic Paraplegia - paediatric v0.176 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6687 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Mendeliome v0.6687 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Mendeliome v0.6687 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from to Spastic paraplegia 56, autosomal recessive, MIM#615030
Mendeliome v0.6686 CYP2U1 Zornitza Stark Publications for gene: CYP2U1 were set to
Mendeliome v0.6685 CYP2U1 Zornitza Stark Mode of inheritance for gene: CYP2U1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6684 CYP2U1 Zornitza Stark Deleted their comment
Mendeliome v0.6684 CYP2U1 Zornitza Stark edited their review of gene: CYP2U1: Added comment: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported.; Changed rating: GREEN; Changed publications: 23176821, 32006740, 29034544
Hereditary Spastic Paraplegia - paediatric v0.176 CYP2U1 Zornitza Stark changed review comment from: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade.; to: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported.
Hereditary Spastic Paraplegia - paediatric v0.176 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Hereditary Spastic Paraplegia - paediatric v0.176 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.176 CYP2U1 Zornitza Stark Publications for gene: CYP2U1 were set to
Hereditary Spastic Paraplegia - paediatric v0.175 CYP2U1 Zornitza Stark reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 32006740, 29034544; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM# 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.175 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Hereditary Spastic Paraplegia - paediatric v0.175 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.175 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from Pontocerebellar hypoplasia, type 9, 615809, AR; Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic); ?Spastic paraplegia 63, 615686, AR to Spastic paraplegia 63 MIM#615686
Hereditary Spastic Paraplegia - paediatric v0.174 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Hereditary Spastic Paraplegia - paediatric v0.174 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.174 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2 to Perrault syndrome 2, MIM#614926
Mendeliome v0.6684 IFRD1 Zornitza Stark Marked gene: IFRD1 as ready
Mendeliome v0.6684 IFRD1 Zornitza Stark Gene: ifrd1 has been classified as Red List (Low Evidence).
Mendeliome v0.6684 IFRD1 Zornitza Stark gene: IFRD1 was added
gene: IFRD1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFRD1 were set to 29362493
Phenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia
Review for gene: IFRD1 was set to RED
Added comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD.
Sources: Expert Review
Mendeliome v0.6684 IFRD1 Zornitza Stark gene: IFRD1 was added
gene: IFRD1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFRD1 were set to 29362493
Phenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia
Review for gene: IFRD1 was set to RED
Added comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD.
Sources: Expert Review
Hereditary Spastic Paraplegia - paediatric v0.173 IFRD1 Zornitza Stark Marked gene: IFRD1 as ready
Hereditary Spastic Paraplegia - paediatric v0.173 IFRD1 Zornitza Stark Gene: ifrd1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.173 IFRD1 Zornitza Stark Tag refuted tag was added to gene: IFRD1.
Hereditary Spastic Paraplegia - paediatric v0.173 KLC4 Zornitza Stark Marked gene: KLC4 as ready
Hereditary Spastic Paraplegia - paediatric v0.173 KLC4 Zornitza Stark Gene: klc4 has been classified as Red List (Low Evidence).
Mendeliome v0.6683 KLC4 Zornitza Stark Marked gene: KLC4 as ready
Mendeliome v0.6683 KLC4 Zornitza Stark Gene: klc4 has been classified as Red List (Low Evidence).
Mendeliome v0.6683 KLC4 Zornitza Stark gene: KLC4 was added
gene: KLC4 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to Complicated hereditary spastic paraplegia
Review for gene: KLC4 was set to RED
Added comment: Single family reported.
Sources: Expert Review
Hereditary Spastic Paraplegia - paediatric v0.173 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Hereditary Spastic Paraplegia - paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.173 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4 MIM#615300
Hereditary Spastic Paraplegia - paediatric v0.172 MARS Zornitza Stark Marked gene: MARS as ready
Hereditary Spastic Paraplegia - paediatric v0.172 MARS Zornitza Stark Gene: mars has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.172 MARS Zornitza Stark Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia to Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280
Hereditary Spastic Paraplegia - paediatric v0.171 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Hereditary Spastic Paraplegia - paediatric v0.171 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.171 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Hereditary Spastic Paraplegia - paediatric v0.171 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.171 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from Biotin-thiamine-responsive basal ganglia disease to Biotin-thiamine-responsive basal ganglia disease, MIM#607483
Hereditary Spastic Paraplegia - paediatric v0.170 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Hereditary Spastic Paraplegia - paediatric v0.170 TPP1 Zornitza Stark Gene: tpp1 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia - paediatric v0.170 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis neuronal 2 to Ceroid lipofuscinosis neuronal 2, MIM#204500
Callosome v0.261 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Callosome v0.261 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Callosome v0.261 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Callosome v0.260 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Callosome v0.259 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.258 AP4M1 Zornitza Stark Classified gene: AP4M1 as Red List (low evidence)
Callosome v0.258 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Callosome v0.257 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.208 AP4M1 Zornitza Stark Classified gene: AP4M1 as Green List (high evidence)
Additional findings_Paediatric v0.208 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Mendeliome v0.6682 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Mendeliome v0.6682 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Mendeliome v0.6682 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Mendeliome v0.6681 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Mendeliome v0.6680 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6679 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3503 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Intellectual disability syndromic and non-syndromic v0.3503 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3503 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Intellectual disability syndromic and non-syndromic v0.3502 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Intellectual disability syndromic and non-syndromic v0.3501 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3500 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Additional findings_Paediatric v0.206 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Additional findings_Paediatric v0.205 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.169 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Hereditary Spastic Paraplegia - paediatric v0.169 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.169 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Hereditary Spastic Paraplegia - paediatric v0.168 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Classified gene: AP4B1 as Green List (high evidence)
Additional findings_Paediatric v0.205 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.204 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Additional findings_Paediatric. Sources: Expert Review
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Review for gene: AP4B1 was set to GREEN
Added comment: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 unrelated families reported.
Sources: Expert Review
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Classified gene: AP4E1 as Green List (high evidence)
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.202 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to Additional findings_Paediatric. Sources: Expert Review
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992; 32979048; 23472171
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744
Review for gene: AP4E1 was set to GREEN
Added comment: Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.
Sources: Expert Review
Hereditary Spastic Paraplegia - paediatric v0.168 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Hereditary Spastic Paraplegia - paediatric v0.168 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.168 AP4E1 Zornitza Stark Publications for gene: AP4E1 were set to
Hereditary Spastic Paraplegia - paediatric v0.167 AP4E1 Zornitza Stark reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992, 32979048, 23472171; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.257 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Callosome v0.257 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Callosome v0.257 AP4B1 Zornitza Stark Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Callosome v0.256 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Callosome v0.255 AP4B1 Zornitza Stark Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.254 AP4B1 Zornitza Stark Classified gene: AP4B1 as Red List (low evidence)
Callosome v0.254 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Callosome v0.253 AP4B1 Zornitza Stark reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3500 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Intellectual disability syndromic and non-syndromic v0.3500 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3500 AP4B1 Zornitza Stark Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Intellectual disability syndromic and non-syndromic v0.3499 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Intellectual disability syndromic and non-syndromic v0.3498 AP4B1 Zornitza Stark Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3497 AP4B1 Zornitza Stark reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.167 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Hereditary Spastic Paraplegia - paediatric v0.167 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.167 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Hereditary Spastic Paraplegia - paediatric v0.166 AP4B1 Zornitza Stark reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6679 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Mendeliome v0.6679 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Mendeliome v0.6679 ADAMTS13 Zornitza Stark Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Mendeliome v0.6678 ADAMTS13 Zornitza Stark Publications for gene: ADAMTS13 were set to
Mendeliome v0.6677 ADAMTS13 Zornitza Stark Mode of inheritance for gene: ADAMTS13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6676 ADAMTS13 Zornitza Stark reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: 11586351, 30312976; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.213 ADAMTS13 Zornitza Stark Publications for gene: ADAMTS13 were set to 11586351
Bleeding and Platelet Disorders v0.212 ADAMTS13 Zornitza Stark edited their review of gene: ADAMTS13: Changed publications: 11586351, 30312976
Bleeding and Platelet Disorders v0.212 ADAMTS13 Zornitza Stark Mode of inheritance for gene: ADAMTS13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.211 ADAMTS13 Zornitza Stark edited their review of gene: ADAMTS13: Changed phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3497 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Intellectual disability syndromic and non-syndromic v0.3497 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3497 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Intellectual disability syndromic and non-syndromic v0.3496 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Intellectual disability syndromic and non-syndromic v0.3495 AP4S1 Zornitza Stark Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3494 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6676 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Mendeliome v0.6676 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Mendeliome v0.6676 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Mendeliome v0.6675 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Mendeliome v0.6674 AP4S1 Zornitza Stark Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6673 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.166 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Hereditary Spastic Paraplegia - paediatric v0.166 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.166 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Hereditary Spastic Paraplegia - paediatric v0.165 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.165 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Hereditary Spastic Paraplegia - paediatric v0.165 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.165 ARG1 Zornitza Stark Publications for gene: ARG1 were set to
Cerebellar and Pontocerebellar Hypoplasia v1.3 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.3 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.3 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 30924036
Phenotypes for gene: AIMP1 were set to Pontocerebellar hypoplasia
Review for gene: AIMP1 was set to RED
Added comment: Single individual reported with homozygous frameshift variant and PCH/simplified gyral pattern.

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

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

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

Bray and Cotton (2003) stated that a total of 15 missense, 3 nonsense, 3 frameshift, 1 splice site, and 2 alternatively spliced mutations had been reported in the NR3C1 gene to be associated with glucocorticoid resistance. Sixteen polymorphisms in the gene had also been reported.
Sources: Literature