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Mendeliome v1.3353 SF1 Sarah Milton changed review comment from: SF1 is involved in the first step of spliceosome complex assembly by recognizing the intron branchpoint consensus sequence at the 3′ splice site of the pre-mRNA. It is also involved in regulating alternative splicing

PMID: 40987292 describes 15 affected individuals with a neurodevelopmental disorder with monoallelic variants in SF1. Affected individuals had developmental delay, mild to moderate ID, behavioural disorders, seizures (3/15), brachydactyly (5/15), nail hypoplasia (5/15).
Variant types included missense and high impact LOF (nonsense and frameshift).

Most variants were appropriately rare in gnomAD v4 however one reported variant had 9 hets.
pLI for SF1 is 1 with overall few LOF variants in gene.

Supportive functional studies reported in publication. SF1 deficient neural progenitor cells showed altered gene expression in genes involved in neuronal differentiation/synaptic transmission and axonal guidance.
Sources: Literature; to: SF1 is involved in the first step of spliceosome complex assembly by recognizing the intron branchpoint consensus sequence at the 3′ splice site of the pre-mRNA. It is also involved in regulating alternative splicing

PMID: 40987292 describes 15 affected individuals with a neurodevelopmental disorder with monoallelic variants in SF1. Affected individuals had developmental delay, mild to moderate ID, behavioural disorders, seizures (3/15), brachydactyly (5/15), nail hypoplasia (5/15).
12 confirmed to have de novo variants including missense and high impact LOF (nonsense and frameshift).

Most variants were appropriately rare in gnomAD v4 however one reported variant had 9 hets.
pLI for SF1 is 1 with overall few LOF variants in gene.

Supportive functional studies reported in publication. SF1 deficient neural progenitor cells showed altered gene expression in genes involved in neuronal differentiation/synaptic transmission and axonal guidance.
Sources: Literature
Mendeliome v1.3353 SF1 Sarah Milton gene: SF1 was added
gene: SF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF1 were set to PMID: 40987292
Phenotypes for gene: SF1 were set to Neurodevelopmental disorder, MONDO:0700092, SF1-related
Review for gene: SF1 was set to GREEN
Added comment: SF1 is involved in the first step of spliceosome complex assembly by recognizing the intron branchpoint consensus sequence at the 3′ splice site of the pre-mRNA. It is also involved in regulating alternative splicing

PMID: 40987292 describes 15 affected individuals with a neurodevelopmental disorder with monoallelic variants in SF1. Affected individuals had developmental delay, mild to moderate ID, behavioural disorders, seizures (3/15), brachydactyly (5/15), nail hypoplasia (5/15).
Variant types included missense and high impact LOF (nonsense and frameshift).

Most variants were appropriately rare in gnomAD v4 however one reported variant had 9 hets.
pLI for SF1 is 1 with overall few LOF variants in gene.

Supportive functional studies reported in publication. SF1 deficient neural progenitor cells showed altered gene expression in genes involved in neuronal differentiation/synaptic transmission and axonal guidance.
Sources: Literature
Mendeliome v1.2899 IGSF10 Zornitza Stark Phenotypes for gene: IGSF10 were changed from delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency to Disorder of sex differentiation, MONDO:0002145, IGSF10-related
Mendeliome v1.2898 IGSF10 Zornitza Stark Publications for gene: IGSF10 were set to 27137492; 31042289
Mendeliome v1.2897 IGSF10 Zornitza Stark Mode of inheritance for gene: IGSF10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2896 IGSF10 Zornitza Stark reviewed gene: IGSF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 27137492, 31042289, 40700020; Phenotypes: Disorder of sex differentiation, MONDO:0002145, IGSF10-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2893 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from Recurrent infections, poor antibody responses, decreased immunoglobulins to Inborn error of immunity, MONDO:0003778, TNFSF12-related
Mendeliome v1.2892 TNFSF12 Zornitza Stark edited their review of gene: TNFSF12: Changed phenotypes: Inborn error of immunity, MONDO:0003778, TNFSF12-related
Mendeliome v1.2806 TNFRSF11B Bryony Thompson Publications for gene: TNFRSF11B were set to 14672344
Mendeliome v1.2805 TNFRSF11B Bryony Thompson Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset, MIM# 239000 to juvenile Paget disease MONDO:0009394; chondrocalcinosis 1 MONDO:0010917
Mendeliome v1.2804 TNFRSF11B Bryony Thompson Mode of inheritance for gene: TNFRSF11B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.2803 TNFRSF11B Bryony Thompson reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24743232, 40735895, 29578045, 33559312, 33989379, 35412619; Phenotypes: chondrocalcinosis 1 MONDO:0010917; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1128 SRSF1 Zornitza Stark Phenotypes for gene: SRSF1 were changed from Neurodevelopmental disorder, SRSF1-related MONDO:0700092 to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489
Mendeliome v1.1127 SRSF1 Zornitza Stark reviewed gene: SRSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.838 SRSF1 Zornitza Stark Marked gene: SRSF1 as ready
Mendeliome v1.838 SRSF1 Zornitza Stark Gene: srsf1 has been classified as Green List (High Evidence).
Mendeliome v1.838 SRSF1 Zornitza Stark Classified gene: SRSF1 as Green List (high evidence)
Mendeliome v1.838 SRSF1 Zornitza Stark Gene: srsf1 has been classified as Green List (High Evidence).
Mendeliome v1.836 SRSF1 Paul De Fazio gene: SRSF1 was added
gene: SRSF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SRSF1 were set to 37071997
Phenotypes for gene: SRSF1 were set to Neurodevelopmental disorder, SRSF1-related MONDO:0700092
Review for gene: SRSF1 was set to GREEN
gene: SRSF1 was marked as current diagnostic
Added comment: 17 individuals from 16 families reported with mostly de novo variants. Variants were a mixture of missense, nonsense/frameshift (both NMD-predicted and not NMD-predicted) and microdeletions. In one family, only one parent was available for testing. In another family, 2 affected siblings had the variant but the variant was not identified in either parent suggesting germline mosaicism.

Functional testing of a subset of variants in Drosophila supported pathogenicity in most, but 2 missense variants showed no functional effect and were classified VUS. Episignature analysis (EpiSign) on patient DNA from blood showed a specific DNA methylation signature in patients with the variants classified pathogenic but not those classified VUS.

Phenotypes included mainly neurological abnormalities (mild to moderate ID/dev delay, motor delay, speech delay, and behavioural disorders) and facial dysmorphisms.

Other features included hypotonia (11/16), variable brain abnormalities on MRI (6/12), variable cardiac malformations (6/14). urogenital malformations e.g. hypospadias, cryptorchidism (6/13), scoliosis (5/17) and/or variable other skeletal abnormalities (10/17).
Sources: Literature
Mendeliome v1.285 TYMS Lucy Spencer gene: TYMS was added
gene: TYMS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TYMS was set to Other
Publications for gene: TYMS were set to 35931051
Phenotypes for gene: TYMS were set to Dyskeratosis congenita MONDO:0015780
Review for gene: TYMS was set to RED
Added comment: 8 families with dyskeratosis congenita and heterozygous variants in TYMS. 4 PTCs, 2 missense and 1 splice (2 families had the same frameshift). However in all families 1 unaffected parent was also heterozygous for the same TYSM variant.

The other parent in 3 of these families was then shown to carry a heterozygous variant in ENOSF1 which each affected child was also heterozygous for. ENOSF1 has been shown to modify TYMS expression at the RNA level by acting as an antisense molecule to TYMS. ENOSF1 partially overlaps TYMS on chromosome 18 and is transcribed in the opposite direction to TYMS. This paper is suggesting digenic inheritance.

The TYMS wild type parent from another family was seen to have a TYMSOS variant which was also observed along with the TYMS variant in their 2 affected children.

Immunoblotting showed a stark reduction in TYMS protein level in the cells of affected probands when compared to the parent carrier, wild-type parent, and the controls.

Lymphoblastoid cells from affected probands have severe TYMS deficiency, altered cellular deoxyribonucleotide triphosphate pools, and hypersensitivity to the TYMS-specific inhibitor 5-fluorouracil. These defects in the nucleotide metabolism pathway resulted in genotoxic stress, defective transcription, and abnormal telomere maintenance. Gene-rescue studies in cells from affected probands revealed that post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1.
Sources: Literature
Mendeliome v1.111 TNFSF13 Zornitza Stark Marked gene: TNFSF13 as ready
Mendeliome v1.111 TNFSF13 Zornitza Stark Gene: tnfsf13 has been classified as Red List (Low Evidence).
Mendeliome v1.111 TNFSF13 Zornitza Stark gene: TNFSF13 was added
gene: TNFSF13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF13 were set to 32298700
Phenotypes for gene: TNFSF13 were set to Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related
Review for gene: TNFSF13 was set to RED
Added comment: Single individual, consanguineous parents.
Sources: Literature
Mendeliome v0.14250 WASF1 Zornitza Stark Marked gene: WASF1 as ready
Mendeliome v0.14250 WASF1 Zornitza Stark Gene: wasf1 has been classified as Green List (High Evidence).
Mendeliome v0.14250 WASF1 Zornitza Stark Phenotypes for gene: WASF1 were changed from to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Mendeliome v0.14249 WASF1 Zornitza Stark Publications for gene: WASF1 were set to
Mendeliome v0.14248 WASF1 Zornitza Stark Mode of inheritance for gene: WASF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14247 WASF1 Zornitza Stark reviewed gene: WASF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29961568, 34845217, 34478686, 34356165; Phenotypes: Neurodevelopmental disorder with absent language and variable seizures , MIM#618707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12708 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Mendeliome v0.12708 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Green List (High Evidence).
Mendeliome v0.12708 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from to Osteopetrosis, autosomal recessive 2, MIM# 259710
Mendeliome v0.12707 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Mendeliome v0.12706 TNFSF11 Zornitza Stark Mode of inheritance for gene: TNFSF11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12705 TNFSF11 Zornitza Stark edited their review of gene: TNFSF11: Changed publications: 17632511, 32048120, 10984520
Mendeliome v0.12705 TNFSF11 Zornitza Stark reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17632511; Phenotypes: Osteopetrosis, autosomal recessive 2, MIM# 259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Green List (High Evidence).
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from to Paget disease of bone 5, juvenile-onset, MIM# 239000
Mendeliome v0.12704 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Mendeliome v0.12703 TNFRSF11B Zornitza Stark Mode of inheritance for gene: TNFRSF11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12702 TNFRSF11B Zornitza Stark reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 14672344; Phenotypes: Paget disease of bone 5, juvenile-onset, MIM# 239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11032 TNFRSF10B Zornitza Stark Marked gene: TNFRSF10B as ready
Mendeliome v0.11032 TNFRSF10B Zornitza Stark Gene: tnfrsf10b has been classified as Red List (Low Evidence).
Mendeliome v0.11032 TNFRSF10B Zornitza Stark Phenotypes for gene: TNFRSF10B were changed from to Squamous cell carcinoma, head and neck MIM#275355
Mendeliome v0.11031 TNFRSF10B Zornitza Stark Publications for gene: TNFRSF10B were set to
Mendeliome v0.11030 TNFRSF10B Zornitza Stark Mode of inheritance for gene: TNFRSF10B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11029 TNFRSF10B Zornitza Stark Classified gene: TNFRSF10B as Red List (low evidence)
Mendeliome v0.11029 TNFRSF10B Zornitza Stark Gene: tnfrsf10b has been classified as Red List (Low Evidence).
Mendeliome v0.11004 TNFRSF10B Paul De Fazio reviewed gene: TNFRSF10B: Rating: RED; Mode of pathogenicity: None; Publications: 9721851; Phenotypes: Squamous cell carcinoma, head and neck MIM#275355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Mendeliome v0.10011 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Mendeliome v0.10010 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10009 TNFRSF11A Zornitza Stark reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6451 USF1 Bryony Thompson Marked gene: USF1 as ready
Mendeliome v0.6451 USF1 Bryony Thompson Gene: usf1 has been classified as Red List (Low Evidence).
Mendeliome v0.6451 USF1 Bryony Thompson Classified gene: USF1 as Red List (low evidence)
Mendeliome v0.6451 USF1 Bryony Thompson Gene: usf1 has been classified as Red List (Low Evidence).
Mendeliome v0.6450 USF1 Bryony Thompson reviewed gene: USF1: Rating: RED; Mode of pathogenicity: None; Publications: 14991056, 16076849, 31725952; Phenotypes: Hyperlipidemia, familial combined, susceptibility to MIM#602491; Mode of inheritance: Unknown
Mendeliome v0.6326 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Mendeliome v0.6326 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
Mendeliome v0.6326 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Mendeliome v0.6325 IGSF1 Zornitza Stark Publications for gene: IGSF1 were set to
Mendeliome v0.6324 IGSF1 Zornitza Stark Mode of inheritance for gene: IGSF1 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 v0.6323 IGSF1 Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; 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 v0.4725 IGSF10 Bryony Thompson Marked gene: IGSF10 as ready
Mendeliome v0.4725 IGSF10 Bryony Thompson Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4725 IGSF10 Bryony Thompson Classified gene: IGSF10 as Amber List (moderate evidence)
Mendeliome v0.4725 IGSF10 Bryony Thompson Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4724 IGSF10 Bryony Thompson gene: IGSF10 was added
gene: IGSF10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IGSF10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IGSF10 were set to 27137492; 31042289
Phenotypes for gene: IGSF10 were set to delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency
Review for gene: IGSF10 was set to AMBER
Added comment: PMID: 27137492 - 4 Finnish families segregating p.Glu161Lys, but Finnish MAF in ExAC is 2%. Another six additional families with a possible missense, but variants are seen in ExAC suggesting incomplete penetrance. Supporting in vitro functional assays and zebrafish model. PMID: 31042289 - 2 unrelated consanguineous families with homozygous variants and family with a heterozygous frameshift and apparent incomplete penetrance.
Sources: Literature
Mendeliome v0.4493 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Mendeliome v0.4493 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Mendeliome v0.4493 CSF1R Zornitza Stark Phenotypes for gene: CSF1R were changed from to Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476); Leukoencephalopathy, diffuse hereditary, with spheroids, (MIM#221820)
Mendeliome v0.4492 CSF1R Zornitza Stark Publications for gene: CSF1R were set to
Mendeliome v0.4491 CSF1R Zornitza Stark Mode of pathogenicity for gene: CSF1R was changed from to Other
Mendeliome v0.4490 CSF1R Zornitza Stark Mode of inheritance for gene: CSF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4486 CSF1R Elena Savva reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31330095, 24336230; Phenotypes: Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476), Leukoencephalopathy, diffuse hereditary, with spheroids, (MIM#221820); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2520 CPSF1 Zornitza Stark Phenotypes for gene: CPSF1 were changed from Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia to Myopia 27, 618827; high myopia; early-onset high myopia
Mendeliome v0.2519 CPSF1 Zornitza Stark Marked gene: CPSF1 as ready
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Mendeliome v0.2519 CPSF1 Zornitza Stark Classified gene: CPSF1 as Green List (high evidence)
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Mendeliome v0.2401 CPSF1 Kristin Rigbye changed review comment from: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature; to: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (PMID: 30689892).
Sources: Literature
Mendeliome v0.2401 CPSF1 Kristin Rigbye edited their review of gene: CPSF1: Changed phenotypes: Myopia 27, 618827, high myopia, early-onset high myopia, high myopia
Mendeliome v0.2401 CPSF1 Kristin Rigbye gene: CPSF1 was added
gene: CPSF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CPSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPSF1 were set to 30689892
Phenotypes for gene: CPSF1 were set to Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia
Review for gene: CPSF1 was set to GREEN
Added comment: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature
Mendeliome v0.2161 TNFSF12 Zornitza Stark Marked gene: TNFSF12 as ready
Mendeliome v0.2161 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2161 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins
Mendeliome v0.2160 TNFSF12 Zornitza Stark Publications for gene: TNFSF12 were set to
Mendeliome v0.2159 TNFSF12 Zornitza Stark Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2158 TNFSF12 Zornitza Stark Classified gene: TNFSF12 as Red List (low evidence)
Mendeliome v0.2158 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2157 TNFSF12 Zornitza Stark reviewed gene: TNFSF12: Rating: RED; Mode of pathogenicity: None; Publications: 23493554; Phenotypes: Recurrent infections, poor antibody responses, decreased immunoglobulins; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Phenotypes for gene: TNFRSF13C were changed from to Immunodeficiency, common variable, 4, MIM# 613494
Mendeliome v0.2152 TNFRSF13C Zornitza Stark Publications for gene: TNFRSF13C were set to
Mendeliome v0.2151 TNFRSF13C Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Amber List (moderate evidence)
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2149 TNFRSF13C Zornitza Stark reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: None; Publications: 19666484, 26613719; Phenotypes: Immunodeficiency, common variable, 4, MIM# 613494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Green List (High Evidence).
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from to Immunodeficiency, common variable, 2, MIM# 240500
Mendeliome v0.2148 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
Mendeliome v0.2147 TNFRSF13B Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from Unknown to Other
Mendeliome v0.2146 TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17392798, 16007086, 18981294, 16007087; Phenotypes: Immunodeficiency, common variable, 2, MIM# 240500; Mode of inheritance: Other
Mendeliome v0.696 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Mendeliome v0.696 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Mendeliome v0.696 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680
Mendeliome v0.695 TNFRSF1A Zornitza Stark Publications for gene: TNFRSF1A were set to
Mendeliome v0.694 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.693 TNFRSF1A Zornitza Stark reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10199409; Phenotypes: Periodic fever, familial, MIM# 142680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.0 WASF1 Zornitza Stark gene: WASF1 was added
gene: WASF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WASF1 was set to Unknown
Mendeliome v0.0 USF1 Zornitza Stark gene: USF1 was added
gene: USF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USF1 was set to Unknown
Mendeliome v0.0 TNFSF12 Zornitza Stark gene: TNFSF12 was added
gene: TNFSF12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFSF12 was set to Unknown
Mendeliome v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFSF11 was set to Unknown
Mendeliome v0.0 TNFRSF1A Zornitza Stark gene: TNFRSF1A was added
gene: TNFRSF1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF1A was set to Unknown
Mendeliome v0.0 TNFRSF13C Zornitza Stark gene: TNFRSF13C was added
gene: TNFRSF13C was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF13C was set to Unknown
Mendeliome v0.0 TNFRSF13B Zornitza Stark gene: TNFRSF13B was added
gene: TNFRSF13B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF13B was set to Unknown
Mendeliome v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF11B was set to Unknown
Mendeliome v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF11A was set to Unknown
Mendeliome v0.0 TNFRSF10B Zornitza Stark gene: TNFRSF10B was added
gene: TNFRSF10B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNFRSF10B was set to Unknown
Mendeliome v0.0 IGSF1 Zornitza Stark gene: IGSF1 was added
gene: IGSF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IGSF1 was set to Unknown
Mendeliome v0.0 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSF1R was set to Unknown