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Mendeliome v1.2164 RAB35 Bryony Thompson changed review comment from: PMID: 38432637 - a single case with a neurodevelopmental disorder and a homozygous missense variant (c.80G>A; p.R27H) and supporting in vitro functional assays.
PMID: 36928819 - Posterior probability association (PPA) 0.955 for familial hypercholesterolaemia under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 469 FH cases and 55,033 controls used in BeviMed analysis. A nonsense variant and frameshift enriched in the FH cohort (n=6).
Sources: Literature; to: PMID: 38432637 - a single case with a neurodevelopmental disorder and a homozygous missense variant (c.80G>A; p.R27H) and supporting in vitro functional assays.
PMID: 36928819 - Posterior probability association (PPA) 0.955 for familial hypercholesterolaemia under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 469 FH cases and 55,033 controls used in BeviMed analysis. A nonsense variant and frameshift enriched in the FH cohort (n=6). Cosegergation in 1 affected relative also reported.
Sources: Literature
Mendeliome v1.2164 RAB35 Bryony Thompson gene: RAB35 was added
gene: RAB35 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB35 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RAB35 were set to 38432637; 36928819
Phenotypes for gene: RAB35 were set to familial hypercholesterolemia MONDO:0005439; neurodevelopmental disorder MONDO:0700092
Review for gene: RAB35 was set to RED
Added comment: PMID: 38432637 - a single case with a neurodevelopmental disorder and a homozygous missense variant (c.80G>A; p.R27H) and supporting in vitro functional assays.
PMID: 36928819 - Posterior probability association (PPA) 0.955 for familial hypercholesterolaemia under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 469 FH cases and 55,033 controls used in BeviMed analysis. A nonsense variant and frameshift enriched in the FH cohort (n=6).
Sources: Literature
Mendeliome v1.1671 SCA4_ZFHX3_GGC Bryony Thompson Marked STR: SCA4_ZFHX3_GGC as ready
Mendeliome v1.1671 SCA4_ZFHX3_GGC Bryony Thompson Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Mendeliome v1.1671 SCA4_ZFHX3_GGC Bryony Thompson Classified STR: SCA4_ZFHX3_GGC as Green List (high evidence)
Mendeliome v1.1671 SCA4_ZFHX3_GGC Bryony Thompson Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Mendeliome v1.1670 SCA4_ZFHX3_GGC Bryony Thompson STR: SCA4_ZFHX3_GGC was added
STR: SCA4_ZFHX3_GGC was added to Mendeliome. Sources: Literature
Mode of inheritance for STR: SCA4_ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA4_ZFHX3_GGC were set to 38035881; 38197134
Phenotypes for STR: SCA4_ZFHX3_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847
Review for STR: SCA4_ZFHX3_GGC was set to GREEN
STR: SCA4_ZFHX3_GGC was marked as clinically relevant
Added comment: PMID: 38035881 - repeat expansion is identified in 5 Swedish ataxia families that developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades.
PMID: 38197134 - Poly-glycine GGC expansion in the last coding exon of ZFHX3 was identified in the original SCA4 Utah pedigree (Swedish origin) in the region of high linkage identified on 16q22. The expansion was also identified in an Iowa ataxia pedigree of Swedish ancestry. The expansion wasn’t identified in 11,258 exomes, 7,650 WGS probands without neurological phenotype, or 803 individuals with ataxia. Grch38 chr16:72787695–72787758
Normal allele <30 repeats, 21 repeats is the most common (derived from 33,094 individuals)
Undefined pathogenic 30-48 repeats
Definitive pathogenicity 48+ repeats
Sources: Literature
Mendeliome v1.1617 FHL2 Zornitza Stark Marked gene: FHL2 as ready
Mendeliome v1.1617 FHL2 Zornitza Stark Gene: fhl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1617 FHL2 Zornitza Stark Classified gene: FHL2 as Amber List (moderate evidence)
Mendeliome v1.1617 FHL2 Zornitza Stark Gene: fhl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1616 FHL2 Zornitza Stark gene: FHL2 was added
gene: FHL2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FHL2 were set to 36854411; 25358972
Phenotypes for gene: FHL2 were set to Cardiomyopathy, MONDO:0004994, FHL2-related
Review for gene: FHL2 was set to AMBER
Added comment: Emerging evidence that variants in this gene may be associated with cardiomyopathy.

Reports of HCM and DCM.

c.391C>T (p.Arg131Cys) may be recurrent in early-onset DCM.
Sources: Expert Review
Mendeliome v1.1615 ZFHX3 Zornitza Stark Publications for gene: ZFHX3 were set to
Mendeliome v1.1610 ZFHX3 Lucy Spencer reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38412861; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), ZFHX3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1319 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related
Mendeliome v1.1318 ZFHX3 Zornitza Stark edited their review of gene: ZFHX3: Added comment: 41 individuals with protein truncating variants (PTVs) or (partial) deletions of ZFHX3. Presentations included (mild) ID and/or behavioural problems, postnatal growth retardation, feeding difficulties, dysmorphism (rarely cleft palate). Nuclear abundance of ZFHX3 increases during human brain development and neuronal differentiation in neural stem cells and SH-SY5Y cells, ZFHX3 interacts with the chromatin remodelling BRG1/Brm-associated factor complex and the cleavage and polyadenylation complex. ZFHX3 haploinsufficiency associates with a specific DNA methylation profile in leukocyte-derived DNA, and participates in chromatin remodelling and mRNA processing.; Changed publications: 37292950; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related
Mendeliome v1.1308 ZFHX3 Chirag Patel Classified gene: ZFHX3 as Green List (high evidence)
Mendeliome v1.1308 ZFHX3 Chirag Patel Gene: zfhx3 has been classified as Green List (High Evidence).
Mendeliome v1.1307 ZFHX3 Chirag Patel Classified gene: ZFHX3 as Green List (high evidence)
Mendeliome v1.1307 ZFHX3 Chirag Patel Gene: zfhx3 has been classified as Green List (High Evidence).
Mendeliome v1.1306 ZFHX3 Chirag Patel reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37292950; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.1111 ZFHX4 Ain Roesley Phenotypes for gene: ZFHX4 were changed from Developmental disorders to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)
Mendeliome v1.137 NFATC2 Paul De Fazio gene: NFATC2 was added
gene: NFATC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFATC2 were set to 35789258
Phenotypes for gene: NFATC2 were set to Skeletal system disorder MONDO:0005172
Review for gene: NFATC2 was set to RED
gene: NFATC2 was marked as current diagnostic
Added comment: Patient born to consanguineous parents homozygous for a frameshift variant. No other (unaffected) members of the family were homozygous. Family history of recurrent childhood deaths.

After a healthy birth the patient developed painless decreased range of motion at 1.5yrs leading to difficulty with ambulation at 3yrs. Formal orthopedic assessment at age 15 years
demonstrated a neurodevelopmentally normal young man with marked bilateral fixed flexion contractures of knees, hips, and ankles. The main musculoskeletal findings were painless contractures of the large and small joints of the upper and lower limbs, osteochondromas, and osteopenia. Patient was diagnosed with B-cell lymphoma at age 18.

Patient CD8+ T-cells show impaired polyfunctionality, and the patient had an accumulation of non-functional memory CD4+ T-cells. TFH cell function was also impaired.
Sources: Literature
Mendeliome v0.14047 FHL1 Bryony Thompson Marked gene: FHL1 as ready
Mendeliome v0.14047 FHL1 Bryony Thompson Gene: fhl1 has been classified as Green List (High Evidence).
Mendeliome v0.14047 FHL1 Bryony Thompson Phenotypes for gene: FHL1 were changed from to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
Mendeliome v0.14043 FHL1 Bryony Thompson Publications for gene: FHL1 were set to
Mendeliome v0.14042 FHL1 Bryony Thompson Mode of inheritance for gene: FHL1 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 v0.14039 FHL1 Bryony Thompson reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716112, 20186852, 20301609, 18179901, 25274776, 34366191, 18274675, 19181672; Phenotypes: Reducing body myopathy MONDO:0019948, X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.14034 FH Bryony Thompson Marked gene: FH as ready
Mendeliome v0.14034 FH Bryony Thompson Gene: fh has been classified as Green List (High Evidence).
Mendeliome v0.14034 FH Bryony Thompson Phenotypes for gene: FH were changed from to hereditary leiomyomatosis and renal cell cancer MONDO:0007888; fumaric aciduria MONDO:0011730
Mendeliome v0.14033 FH Bryony Thompson Publications for gene: FH were set to
Mendeliome v0.14032 FH Bryony Thompson Mode of inheritance for gene: FH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14031 FH Bryony Thompson changed review comment from: Well established gene-disease associations. Loss of function is the mechanism of disease. Monoallelic variants associated with decreased fumarate hydratase enzyme activity cause FH tumour predisposition syndrome (also known as HLRCC; PMID: 11865300, 28300276). FH deficiency (also known as fumarase deficiency or fumaric aciduria) caused by biallelic variants results in severe neonatal and early infantile encephalopathy (PMID: 8200987, 20549362, 31746132). FH encodes for both mitochondrial and cytosolic FH enzyme isoforms, which catalyze hydration of fumarate to malate.; to: Well established gene-disease associations. Loss of function is the mechanism of disease. Monoallelic variants associated with decreased fumarate hydratase enzyme activity cause FH tumour predisposition syndrome (also known as HLRCC; PMID: 11865300, 28300276, 20301430). FH deficiency (also known as fumarase deficiency or fumaric aciduria) caused by biallelic variants results in severe neonatal and early infantile encephalopathy (PMID: 8200987, 20549362, 31746132, 20301679). FH encodes for both mitochondrial and cytosolic FH enzyme isoforms, which catalyze hydration of fumarate to malate.
Mendeliome v0.14031 FH Bryony Thompson edited their review of gene: FH: Changed publications: 11865300, 28300276, 20301430, 8200987, 20549362, 31746132, 20301679
Mendeliome v0.14031 FH Bryony Thompson reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11865300, 28300276, 8200987, 20549362, 31746132; Phenotypes: hereditary leiomyomatosis and renal cell cancer MONDO:0007888, fumaric aciduria MONDO:0011730; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13061 CFHR5 Ain Roesley Marked gene: CFHR5 as ready
Mendeliome v0.13061 CFHR5 Ain Roesley Gene: cfhr5 has been classified as Green List (High Evidence).
Mendeliome v0.13061 CFHR5 Ain Roesley Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM#614809
Mendeliome v0.13060 CFHR5 Ain Roesley Publications for gene: CFHR5 were set to
Mendeliome v0.13060 CFHR5 Ain Roesley Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13059 CFHR5 Ain Roesley reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Phenotypes: Nephropathy due to CFHR5 deficiency, MIM#614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13059 CFH Ain Roesley Marked gene: CFH as ready
Mendeliome v0.13059 CFH Ain Roesley Gene: cfh has been classified as Green List (High Evidence).
Mendeliome v0.13059 CFH Ain Roesley Phenotypes for gene: CFH were changed from to Basal laminar drusen MIM#126700; Complement factor H deficiency MIM#609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400
Mendeliome v0.13059 CFH Ain Roesley Publications for gene: CFH were set to
Mendeliome v0.13059 CFH Ain Roesley Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13058 CFH Ain Roesley reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27572114, 25814826, 20301541, 9312129, 10803850, 29888403, 30905644; Phenotypes: Basal laminar drusen MIM#126700, Complement factor H deficiency MIM#609814, {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9704 EFHC1 Zornitza Stark Tag disputed tag was added to gene: EFHC1.
Mendeliome v0.9704 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9704 EFHC1 Bryony Thompson Classified gene: EFHC1 as Red List (low evidence)
Mendeliome v0.9704 EFHC1 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease association curation: Disputed - We have disregarded the very limited functional evidence in light of the complete lack of genetic evidence connecting EFHC1 and epilepsy. In summary, there is convincing evidence disputing the association between EFHC1 and epilepsy. All variants in EFHC1 associated with epilepsy have contradictory evidence for disease association (too common in ExAC/gnomAD, with minor allele frequencies (MAF) of 2.857e-5 to 0.05973). More evidence is needed to either support or refute the role EFHC1 plays in this disease. Classification - 07/27/2018, reviewed Sept 2021
Mendeliome v0.9704 EFHC1 Bryony Thompson Gene: efhc1 has been classified as Red List (Low Evidence).
Mendeliome v0.9181 HBG1 Zornitza Stark gene: HBG1 was added
gene: HBG1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBG1 were set to 26500940
Phenotypes for gene: HBG1 were set to Fetal haemoglobin quantitative trait locus 1, 141749
Review for gene: HBG1 was set to GREEN
Added comment: Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or haematologic manifestations.
Sources: Expert Review
Mendeliome v0.8164 FHOD3 Zornitza Stark Marked gene: FHOD3 as ready
Mendeliome v0.8164 FHOD3 Zornitza Stark Gene: fhod3 has been classified as Green List (High Evidence).
Mendeliome v0.8164 FHOD3 Zornitza Stark Phenotypes for gene: FHOD3 were changed from to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Mendeliome v0.8163 FHOD3 Zornitza Stark Publications for gene: FHOD3 were set to
Mendeliome v0.8162 FHOD3 Zornitza Stark Mode of inheritance for gene: FHOD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8161 FHOD3 Zornitza Stark Tag SV/CNV tag was added to gene: FHOD3.
Mendeliome v0.8161 FHOD3 Zornitza Stark reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32335906, 31742804, 30442288; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6320 CFHR3 Zornitza Stark Marked gene: CFHR3 as ready
Mendeliome v0.6320 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Green List (High Evidence).
Mendeliome v0.6320 CFHR3 Zornitza Stark Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Mendeliome v0.6319 CFHR3 Zornitza Stark Publications for gene: CFHR3 were set to
Mendeliome v0.6318 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6317 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6317 CFHR1 Zornitza Stark Marked gene: CFHR1 as ready
Mendeliome v0.6317 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Green List (High Evidence).
Mendeliome v0.6317 CFHR1 Zornitza Stark Phenotypes for gene: CFHR1 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Mendeliome v0.6316 CFHR1 Zornitza Stark Publications for gene: CFHR1 were set to
Mendeliome v0.6315 CFHR1 Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6314 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6314 CFHR3 Elena Savva reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6314 CFHR1 Elena Savva reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6016 FGF13 Zornitza Stark gene: FGF13 was added
gene: FGF13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to Intellectual disability; epilepsy
Mode of pathogenicity for gene: FGF13 was set to Other
Review for gene: FGF13 was set to GREEN
Added comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay.

The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants.
Sources: Literature
Mendeliome v0.5323 ZFHX4 Zornitza Stark Tag SV/CNV tag was added to gene: ZFHX4.
Mendeliome v0.5323 ZFHX4 Zornitza Stark Classified gene: ZFHX4 as Green List (high evidence)
Mendeliome v0.5323 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence).
Mendeliome v0.5322 ZFHX4 Zornitza Stark reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802062; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5317 ZFHX4 Bryony Thompson Marked gene: ZFHX4 as ready
Mendeliome v0.5317 ZFHX4 Bryony Thompson Gene: zfhx4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5317 ZFHX4 Bryony Thompson Publications for gene: ZFHX4 were set to 33057194
Mendeliome v0.5316 ZFHX4 Bryony Thompson Classified gene: ZFHX4 as Amber List (moderate evidence)
Mendeliome v0.5316 ZFHX4 Bryony Thompson Gene: zfhx4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5315 ZFHX4 Bryony Thompson edited their review of gene: ZFHX4: Changed publications: 33057194, 24038936
Mendeliome v0.5315 ZFHX4 Bryony Thompson edited their review of gene: ZFHX4: Changed phenotypes: Developmental disorders, intellectual disability, dysmorphic features
Mendeliome v0.5315 ZFHX4 Bryony Thompson edited their review of gene: ZFHX4: Changed rating: AMBER
Mendeliome v0.5315 ZFHX4 Bryony Thompson gene: ZFHX4 was added
gene: ZFHX4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX4 were set to 33057194
Phenotypes for gene: ZFHX4 were set to Developmental disorders
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature
Mendeliome v0.3061 NEFH Zornitza Stark Marked gene: NEFH as ready
Mendeliome v0.3061 NEFH Zornitza Stark Gene: nefh has been classified as Green List (High Evidence).
Mendeliome v0.3061 NEFH Zornitza Stark Phenotypes for gene: NEFH were changed from to Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924
Mendeliome v0.3060 NEFH Zornitza Stark Publications for gene: NEFH were set to
Mendeliome v0.3059 NEFH Zornitza Stark Mode of pathogenicity for gene: NEFH was changed from to Other
Mendeliome v0.3058 NEFH Zornitza Stark Mode of inheritance for gene: NEFH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3050 NEFH Chern Lim reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30992180, 27040688, 28709447; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.2071 CFHR4 Zornitza Stark Marked gene: CFHR4 as ready
Mendeliome v0.2071 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Mendeliome v0.2071 CFHR4 Zornitza Stark Classified gene: CFHR4 as Red List (low evidence)
Mendeliome v0.2071 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Mendeliome v0.2070 CFHR4 Zornitza Stark reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2070 CFHR2 Zornitza Stark Marked gene: CFHR2 as ready
Mendeliome v0.2070 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence).
Mendeliome v0.2070 CFHR2 Zornitza Stark Phenotypes for gene: CFHR2 were changed from to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Mendeliome v0.2069 CFHR2 Zornitza Stark Publications for gene: CFHR2 were set to
Mendeliome v0.2068 CFHR2 Zornitza Stark Mode of inheritance for gene: CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2067 CFHR2 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2.
Mendeliome v0.2067 CFHR2 Zornitza Stark reviewed gene: CFHR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334459, 23728178, 20800271; Phenotypes: C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.928 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Mendeliome v0.928 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.928 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Mendeliome v0.927 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Mendeliome v0.926 EFHC1 Zornitza Stark Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.925 EFHC1 Zornitza Stark Classified gene: EFHC1 as Amber List (moderate evidence)
Mendeliome v0.925 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.774 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.774 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.356 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Mendeliome v0.356 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Mendeliome v0.356 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from to Intellectual disability
Mendeliome v0.355 ZFHX3 Zornitza Stark Mode of inheritance for gene: ZFHX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.354 ZFHX3 Zornitza Stark reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.0 ZFHX3 Zornitza Stark gene: ZFHX3 was added
gene: ZFHX3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZFHX3 was set to Unknown
Mendeliome v0.0 NEFH Zornitza Stark gene: NEFH was added
gene: NEFH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEFH was set to Unknown
Mendeliome v0.0 FHOD3 Zornitza Stark gene: FHOD3 was added
gene: FHOD3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FHOD3 was set to Unknown
Mendeliome v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FHL1 was set to Unknown
Mendeliome v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FH was set to Unknown
Mendeliome v0.0 EFHC1 Zornitza Stark gene: EFHC1 was added
gene: EFHC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFHC1 was set to Unknown
Mendeliome v0.0 CFHR5 Zornitza Stark gene: CFHR5 was added
gene: CFHR5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFHR5 was set to Unknown
Mendeliome v0.0 CFHR4 Zornitza Stark gene: CFHR4 was added
gene: CFHR4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFHR4 was set to Unknown
Mendeliome v0.0 CFHR3 Zornitza Stark gene: CFHR3 was added
gene: CFHR3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFHR3 was set to Unknown
Mendeliome v0.0 CFHR2 Zornitza Stark gene: CFHR2 was added
gene: CFHR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFHR2 was set to Unknown
Mendeliome v0.0 CFHR1 Zornitza Stark gene: CFHR1 was added
gene: CFHR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFHR1 was set to Unknown
Mendeliome v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFH was set to Unknown