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Mendeliome v1.2090 C1QTNF5 Sangavi Sivagnanasundram reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008422; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1938 C17orf53 Zornitza Stark Phenotypes for gene: C17orf53 were changed from Primary ovarian insufficiency to Ovarian dysgenesis 11, MIM# 620897
Mendeliome v1.1937 C17orf53 Zornitza Stark Classified gene: C17orf53 as Green List (high evidence)
Mendeliome v1.1937 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Green List (High Evidence).
Mendeliome v1.1936 C17orf53 Zornitza Stark edited their review of gene: C17orf53: Added comment: PMID 38105698: Additional family reported with two sibs and compound het LoF variants.

HGNC approved name is HROB.; Changed rating: GREEN; Changed publications: 34707299, 31467087, 38105698; Changed phenotypes: Ovarian dysgenesis 11, MIM# 620897
Mendeliome v1.1423 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia to osteogenesis imperfecta, MONDO:0019019; Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia
Mendeliome v1.1422 KIF5B Zornitza Stark Publications for gene: KIF5B were set to PMID: 35342932; 36018820
Mendeliome v1.1421 KIF5B Zornitza Stark edited their review of gene: KIF5B: Added comment: Four additional patients with three distinct de-novo missense variants and features consistent with osteogenesis imperfecta. All variants are in the Kinesin motor domain (~50% of the protein). Functional data in C. Elegans and cell lines shows impaired protein function. Not clear what distinguishes OI causing variants from other phenotypes for this gene at this stage. Dominant negative effect proposed but not conclusively proven.; Changed publications: 37934770; Changed phenotypes: Skeletal dysplasia, MONDO:0018230, osteogenesis imperfecta, MONDO:0019019
Mendeliome v1.1072 PHF5A Zornitza Stark Marked gene: PHF5A as ready
Mendeliome v1.1072 PHF5A Zornitza Stark Gene: phf5a has been classified as Green List (High Evidence).
Mendeliome v1.1072 PHF5A Zornitza Stark Classified gene: PHF5A as Green List (high evidence)
Mendeliome v1.1072 PHF5A Zornitza Stark Gene: phf5a has been classified as Green List (High Evidence).
Mendeliome v1.1071 PHF5A Daniel Flanagan gene: PHF5A was added
gene: PHF5A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF5A were set to PMID: 37422718
Phenotypes for gene: PHF5A were set to Neurodevelopmental disorder (MONDO#0700092), PHF5A-related
Review for gene: PHF5A was set to GREEN
Added comment: Nine subjects with congenital malformations, including hypospadias, growth abnormalities, and developmental delay who had de novo PHF5A variants. Prenatally, six subjects had intrauterine growth retardation. All subjects had motor and speech delay and developmental delay. Congenital abnormalities comprised hypospadias in three of four male subjects, and heart defects (3/9), inguinal hernia (3/9), and sacral dimple (3/9). Six of the nine subjects had short stature. Craniofacial dysmorphism is variable in the nine subjects, high forehead and preauricular skin tag(s) in five subjects.
Sources: Expert list
Mendeliome v1.707 KIF5B Zornitza Stark Publications for gene: KIF5B were set to PMID: 35342932
Mendeliome v1.702 KIF5B Achchuthan Shanmugasundram reviewed gene: KIF5B: Rating: ; Mode of pathogenicity: None; Publications: 36018820; Phenotypes: dilated cardiomyopathy, MONDO:0005021, ophthalmoplegia, MONDO:0003425, myopathy, MONDO:0005336, Hypotonia, HP:0001252, Seizure, HP:0001250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.568 C3orf52 Zornitza Stark Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis-15, MIM#620177
Mendeliome v1.567 C3orf52 Zornitza Stark edited their review of gene: C3orf52: Changed phenotypes: Hypotrichosis-15, MIM#620177
Mendeliome v1.266 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Skeletal dysplasia, MONDO:0018230 to Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia
Mendeliome v1.265 KIF5B Zornitza Stark Marked gene: KIF5B as ready
Mendeliome v1.265 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.265 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Skeletal dysplasia, MONDO:0018230
Mendeliome v1.264 KIF5B Zornitza Stark reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.258 KIF5B Chirag Patel Classified gene: KIF5B as Green List (high evidence)
Mendeliome v1.258 KIF5B Chirag Patel Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.258 KIF5B Chirag Patel Classified gene: KIF5B as Green List (high evidence)
Mendeliome v1.258 KIF5B Chirag Patel Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.257 KIF5B Chirag Patel gene: KIF5B was added
gene: KIF5B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to PMID: 35342932
Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #
Review for gene: KIF5B was set to GREEN
Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Mendeliome v1.2 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Mendeliome v0.13145 FGF5 Bryony Thompson Phenotypes for gene: FGF5 were changed from Hypertrichosis to hypertrichosis MONDO:0019280
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Mendeliome v0.12165 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Mendeliome v0.12164 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11463 IRF5 Zornitza Stark Marked gene: IRF5 as ready
Mendeliome v0.11463 IRF5 Zornitza Stark Gene: irf5 has been classified as Red List (Low Evidence).
Mendeliome v0.11463 IRF5 Zornitza Stark Phenotypes for gene: IRF5 were changed from to {Inflammatory bowel disease 14} 612245; {Systemic lupus erythematosus, susceptibility to, 10} 612251
Mendeliome v0.11462 IRF5 Zornitza Stark Classified gene: IRF5 as Red List (low evidence)
Mendeliome v0.11462 IRF5 Zornitza Stark Gene: irf5 has been classified as Red List (Low Evidence).
Mendeliome v0.11461 IRF5 Zornitza Stark reviewed gene: IRF5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Inflammatory bowel disease 14} 612245, {Systemic lupus erythematosus, susceptibility to, 10} 612251; Mode of inheritance: None
Mendeliome v0.11396 C1QTNF5 Zornitza Stark Publications for gene: C1QTNF5 were set to
Mendeliome v0.11380 C1QTNF5 Ain Roesley Phenotypes for gene: C1QTNF5 were changed from to Retinal degeneration, late-onset, autosomal dominant MIM#605670
Mendeliome v0.11379 C1QTNF5 Ain Roesley Marked gene: C1QTNF5 as ready
Mendeliome v0.11380 C1QTNF5 Ain Roesley Publications for gene: C1QTNF5 were set to
Mendeliome v0.11379 C1QTNF5 Ain Roesley Gene: c1qtnf5 has been classified as Green List (High Evidence).
Mendeliome v0.11378 C1QTNF5 Ain Roesley Mode of pathogenicity for gene: C1QTNF5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.11378 C1QTNF5 Ain Roesley Mode of inheritance for gene: C1QTNF5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11377 C1QTNF5 Ain Roesley reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33949280, 12944416, 30451557, 28939808, : 32036094; Phenotypes: Retinal degeneration, late-onset, autosomal dominant MIM#605670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.11364 C12orf57 Ain Roesley Marked gene: C12orf57 as ready
Mendeliome v0.11364 C12orf57 Ain Roesley Gene: c12orf57 has been classified as Green List (High Evidence).
Mendeliome v0.11360 C12orf57 Ain Roesley Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome MIM#218340
Mendeliome v0.11359 C12orf57 Ain Roesley Publications for gene: C12orf57 were set to
Mendeliome v0.11359 C12orf57 Ain Roesley Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11358 C12orf57 Ain Roesley reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: 29383837, 31853307; Phenotypes: Temtamy syndrome MIM#218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11289 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Mendeliome v0.11289 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Mendeliome v0.11289 KIF5A Zornitza Stark Phenotypes for gene: KIF5A were changed from to Neuropathy; Spastic paraplegia 10, autosomal dominant, MIM# 604187; Myoclonus, intractable, neonatal, MIM# 617235
Mendeliome v0.11288 KIF5A Zornitza Stark Publications for gene: KIF5A were set to
Mendeliome v0.11287 KIF5A Zornitza Stark Mode of inheritance for gene: KIF5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11286 KIF5A Zornitza Stark edited their review of gene: KIF5A: Added comment: Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. At least 3 unrelated individuals with de novo LoF variants.

SPG10/CMT: variants are generally in the motor domain.; Changed publications: 30057544, 29892902, 28902413, 26403765, 25695920, 25008398, 27463701, 27414745; Changed phenotypes: Neuropathy, Spastic paraplegia 10, autosomal dominant, MIM# 604187, Myoclonus, intractable, neonatal, MIM# 617235
Mendeliome v0.11152 ZNF513 Zornitza Stark Marked gene: ZNF513 as ready
Mendeliome v0.11152 ZNF513 Zornitza Stark Gene: znf513 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11152 ZNF513 Zornitza Stark Phenotypes for gene: ZNF513 were changed from to Retinitis pigmentosa 58 MIM#613617
Mendeliome v0.11151 ZNF513 Zornitza Stark Publications for gene: ZNF513 were set to
Mendeliome v0.11150 ZNF513 Zornitza Stark Mode of inheritance for gene: ZNF513 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11149 ZNF513 Zornitza Stark Classified gene: ZNF513 as Amber List (moderate evidence)
Mendeliome v0.11149 ZNF513 Zornitza Stark Gene: znf513 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11148 ZNF513 Zornitza Stark reviewed gene: ZNF513: Rating: AMBER; Mode of pathogenicity: None; Publications: 20797688; Phenotypes: Retinitis pigmentosa 58 MIM#613617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11041 C17orf53 Zornitza Stark Marked gene: C17orf53 as ready
Mendeliome v0.11041 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11041 C17orf53 Zornitza Stark Classified gene: C17orf53 as Amber List (moderate evidence)
Mendeliome v0.11041 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11040 C17orf53 Zornitza Stark gene: C17orf53 was added
gene: C17orf53 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf53 were set to 34707299; 31467087
Phenotypes for gene: C17orf53 were set to Primary ovarian insufficiency
Review for gene: C17orf53 was set to AMBER
Added comment: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells.
Sources: Expert Review
Mendeliome v0.10812 NDUFAF5 Ain Roesley reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34797029; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10036 FGF5 Zornitza Stark Marked gene: FGF5 as ready
Mendeliome v0.10036 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Mendeliome v0.10036 FGF5 Zornitza Stark Classified gene: FGF5 as Green List (high evidence)
Mendeliome v0.10036 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Mendeliome v0.10035 FGF5 Zornitza Stark gene: FGF5 was added
gene: FGF5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF5 were set to 24989505
Phenotypes for gene: FGF5 were set to Hypertrichosis
Review for gene: FGF5 was set to GREEN
Added comment: Two families reported, aware of additional unpublished case.
Sources: Literature
Mendeliome v0.7913 EIF5A Zornitza Stark Phenotypes for gene: EIF5A were changed from Intellectual disability; microcephaly; dysmorphism to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism
Mendeliome v0.7912 EIF5A Zornitza Stark edited their review of gene: EIF5A: Changed phenotypes: Faundes-Banka syndrome, MIM# 619376, Intellectual disability, microcephaly, dysmorphism
Mendeliome v0.7758 F5 Zornitza Stark Marked gene: F5 as ready
Mendeliome v0.7758 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Mendeliome v0.7758 F5 Zornitza Stark Phenotypes for gene: F5 were changed from to Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
Mendeliome v0.7757 F5 Zornitza Stark Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7756 F5 Zornitza Stark reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400, MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055, MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7209 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Mendeliome v0.7208 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
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
Mendeliome v0.6555 GDF5 Zornitza Stark Marked gene: GDF5 as ready
Mendeliome v0.6555 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Mendeliome v0.6555 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from to Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)
Mendeliome v0.6554 GDF5 Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6554 GDF5 Zornitza Stark Publications for gene: GDF5 were set to
Mendeliome v0.6553 GDF5 Zornitza Stark Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6539 GDF5 Ain Roesley reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33333243; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6539 EIF5A Zornitza Stark Marked gene: EIF5A as ready
Mendeliome v0.6539 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Mendeliome v0.6539 EIF5A Zornitza Stark Classified gene: EIF5A as Green List (high evidence)
Mendeliome v0.6539 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Mendeliome v0.6538 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Literature
Mendeliome v0.6032 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Mendeliome v0.6031 ZNF526 Zornitza Stark Publications for gene: ZNF526 were set to
Mendeliome v0.6030 ZNF526 Zornitza Stark Mode of inheritance for gene: ZNF526 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6029 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Mendeliome v0.6029 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Mendeliome v0.6026 ZNF526 Arina Puzriakova reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25558065, 33397746; Phenotypes: Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5831 IKZF5 Zornitza Stark Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130
Mendeliome v0.5830 IKZF5 Zornitza Stark edited their review of gene: IKZF5: Changed phenotypes: Thrombocytopaenia 7, MIM#619130
Mendeliome v0.5527 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Mendeliome v0.5527 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Mendeliome v0.5527 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Mendeliome v0.5527 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Mendeliome v0.5526 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Mendeliome v0.5507 MYF5 Zornitza Stark Marked gene: MYF5 as ready
Mendeliome v0.5507 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Mendeliome v0.5507 MYF5 Zornitza Stark Phenotypes for gene: MYF5 were changed from to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855
Mendeliome v0.5506 MYF5 Zornitza Stark Publications for gene: MYF5 were set to
Mendeliome v0.5505 MYF5 Zornitza Stark Mode of inheritance for gene: MYF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5504 MYF5 Zornitza Stark reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29887215, 15386014, 1423602, 9268580, 8918877; Phenotypes: Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5016 DNAAF5 Zornitza Stark Marked gene: DNAAF5 as ready
Mendeliome v0.5016 DNAAF5 Zornitza Stark Gene: dnaaf5 has been classified as Green List (High Evidence).
Mendeliome v0.5016 DNAAF5 Zornitza Stark Phenotypes for gene: DNAAF5 were changed from to Ciliary dyskinesia, primary, 18, MIM# 614874
Mendeliome v0.5015 DNAAF5 Zornitza Stark Publications for gene: DNAAF5 were set to
Mendeliome v0.5014 DNAAF5 Zornitza Stark Mode of inheritance for gene: DNAAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5013 DNAAF5 Zornitza Stark reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23040496, 29363216, 25232951; Phenotypes: Ciliary dyskinesia, primary, 18, MIM# 614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3982 KIF5C Zornitza Stark Marked gene: KIF5C as ready
Mendeliome v0.3982 KIF5C Zornitza Stark Gene: kif5c has been classified as Green List (High Evidence).
Mendeliome v0.3982 KIF5C Zornitza Stark Phenotypes for gene: KIF5C were changed from to Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282
Mendeliome v0.3981 KIF5C Zornitza Stark Publications for gene: KIF5C were set to
Mendeliome v0.3980 KIF5C Zornitza Stark Mode of inheritance for gene: KIF5C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3979 KIF5C Zornitza Stark reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 23033978, 32562872; Phenotypes: Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3670 C3orf52 Zornitza Stark Marked gene: C3orf52 as ready
Mendeliome v0.3670 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3670 C3orf52 Zornitza Stark Classified gene: C3orf52 as Amber List (moderate evidence)
Mendeliome v0.3670 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3669 C3orf52 Zornitza Stark gene: C3orf52 was added
gene: C3orf52 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
Added comment: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Mendeliome v0.2729 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Mendeliome v0.2729 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Mendeliome v0.2729 C21orf59 Zornitza Stark Tag founder tag was added to gene: C21orf59.
Mendeliome v0.2706 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Mendeliome v0.2706 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Mendeliome v0.2706 C21orf59 Zornitza Stark Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500
Mendeliome v0.2705 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to
Mendeliome v0.2704 C21orf59 Zornitza Stark Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2703 C21orf59 Zornitza Stark Tag new gene name tag was added to gene: C21orf59.
Mendeliome v0.2703 C21orf59 Zornitza Stark reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: 24094744; Phenotypes: Ciliary dyskinesia, primary, 26, MIM# 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2185 ZNF592 Zornitza Stark Marked gene: ZNF592 as ready
Mendeliome v0.2185 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.2185 ZNF592 Zornitza Stark Phenotypes for gene: ZNF592 were changed from to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Mendeliome v0.2184 ZNF592 Zornitza Stark Mode of inheritance for gene: ZNF592 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2183 ZNF592 Zornitza Stark Publications for gene: ZNF592 were set to
Mendeliome v0.2182 ZNF592 Zornitza Stark Classified gene: ZNF592 as Red List (low evidence)
Mendeliome v0.2182 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.1686 CXorf56 Zornitza Stark Classified gene: CXorf56 as Green List (high evidence)
Mendeliome v0.1686 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Green List (High Evidence).
Mendeliome v0.1685 CXorf56 Zornitza Stark edited their review of gene: CXorf56: Added comment: Additional 3 families reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 29374277, 31822863; Changed phenotypes: Mental retardation, X-linked 107, MIM# 301013
Mendeliome v0.1496 ZNF592 Chern Lim changed review comment from: No patients reported with ZNF592 variant that is clearly disease causing.

A 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly supportive of pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).; to: No patients reported with ZNF592 variant that is clearly disease causing.

A 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly conclusive for pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).
Mendeliome v0.1496 ZNF592 Chern Lim reviewed gene: ZNF592: Rating: RED; Mode of pathogenicity: None; Publications: 20531441, 26123727; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.976 IKZF5 Zornitza Stark Marked gene: IKZF5 as ready
Mendeliome v0.976 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Mendeliome v0.976 IKZF5 Zornitza Stark Classified gene: IKZF5 as Green List (high evidence)
Mendeliome v0.976 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Mendeliome v0.975 IKZF5 Zornitza Stark gene: IKZF5 was added
gene: IKZF5 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia
Review for gene: IKZF5 was set to GREEN
Added comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease
Sources: Expert Review
Mendeliome v0.635 CXorf56 Zornitza Stark Marked gene: CXorf56 as ready
Mendeliome v0.635 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Red List (Low Evidence).
Mendeliome v0.635 CXorf56 Zornitza Stark gene: CXorf56 was added
gene: CXorf56 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CXorf56 were set to 29374277
Phenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM# 301013
Review for gene: CXorf56 was set to RED
Added comment: Single multigenerational family reported.
Sources: Expert list
Mendeliome v0.43 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Mendeliome v0.43 ZNF526 Zornitza Stark Gene: znf526 has been classified as Red List (Low Evidence).
Mendeliome v0.43 ZNF526 Zornitza Stark Classified gene: ZNF526 as Red List (low evidence)
Mendeliome v0.43 ZNF526 Zornitza Stark Gene: znf526 has been classified as Red List (Low Evidence).
Mendeliome v0.42 ZNF526 Zornitza Stark Classified gene: ZNF526 as Red List (low evidence)
Mendeliome v0.42 ZNF526 Zornitza Stark Gene: znf526 has been classified as Red List (Low Evidence).
Mendeliome v0.41 ZNF526 Zornitza Stark reviewed gene: ZNF526: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.23 C3orf58 Zornitza Stark Marked gene: C3orf58 as ready
Mendeliome v0.23 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Mendeliome v0.23 C3orf58 Zornitza Stark Classified gene: C3orf58 as Red List (low evidence)
Mendeliome v0.23 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Mendeliome v0.0 ZNF592 Zornitza Stark gene: ZNF592 was added
gene: ZNF592 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF592 was set to Unknown
Mendeliome v0.0 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF526 was set to Unknown
Mendeliome v0.0 ZNF513 Zornitza Stark gene: ZNF513 was added
gene: ZNF513 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF513 was set to Unknown
Mendeliome v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF5 was set to Unknown
Mendeliome v0.0 MYF5 Zornitza Stark gene: MYF5 was added
gene: MYF5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYF5 was set to Unknown
Mendeliome v0.0 KIF5C Zornitza Stark gene: KIF5C was added
gene: KIF5C was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF5C was set to Unknown
Mendeliome v0.0 KIF5A Zornitza Stark gene: KIF5A was added
gene: KIF5A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF5A was set to Unknown
Mendeliome v0.0 IRF5 Zornitza Stark gene: IRF5 was added
gene: IRF5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IRF5 was set to Unknown
Mendeliome v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GDF5 was set to Unknown
Mendeliome v0.0 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F5 was set to Unknown
Mendeliome v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF5 was set to Unknown
Mendeliome v0.0 C21orf59 Zornitza Stark gene: C21orf59 was added
gene: C21orf59 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C21orf59 was set to Unknown
Mendeliome v0.0 C3orf58 Zornitza Stark gene: C3orf58 was added
gene: C3orf58 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C3orf58 was set to Unknown
Mendeliome v0.0 C1QTNF5 Zornitza Stark gene: C1QTNF5 was added
gene: C1QTNF5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C1QTNF5 was set to Unknown
Mendeliome v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C12orf57 was set to Unknown